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Ghid medical diseases

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        Patterned dystrophy of retinal pigment epithelium                                                                            

        Patterned Dystrophy of Retinal Pigment Epithelium                                                                             [...]

        Multiple pterygium syndrome, lethal type (pterygium, multiple, lethal type)                              

        Multiple Pterygium Syndrome, Lethal Type (Pterygium, Multiple, Lethal Type)                               [...]

        Sneddon disease                                                                                                                                      

        Sneddon Disease                                                                                                                                       [...]

        Noonan syndrome (male turner syndrome)                                                                                         8

        Noonan Syndrome (Male Turner Syndrome)                                                                                         8 [...]

        Okihiro syndrome                                                                                                                                    

        Okihiro Syndrome                                                                                                                                     [...]

        Andersen-warburg syndrome

        Andersen-Warburg Syndrome (Whitnall-Norman Syndrome; Oligophrenia Microphthalmos  Syndrome; Norrie Disease; Atrophia Oculi Congenital Fetal Iritis Syndrome; Congenital  Progressi Oculo-Acoustico-Cerebral Dysplasia)                                [...]

        Neuronal ceroid lipofuscinosis (neuronal intranuclear inclusion disease; niid)                            8

        Neuronal Ceroid Lipofuscinosis (Neuronal Intranuclear Inclusion Disease; NIID)                            8 [...]

        Sweet syndrome (acute febrile neutrophilic dermatosis)                                                                  1

        Sweet Syndrome (Acute Febrile Neutrophilic Dermatosis)                                                                  1 [...]

        Congenital cataract with oxycephaly (tower skull syndrome)                                                          278

        Congenital Cataract with Oxycephaly (Tower Skull Syndrome)                               & [...]

        Lens-iris diaphram retropulsion syndrome                                                                                         

        Lens-Iris Diaphram Retropulsion Syndrome                                                                                          [...]

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        W [...]

        Bloom syndrome (bloom-torre-mackacek syndrome; levi-type dwarfism; telangiectasis; facial dwarfism)                                                                                                                                                                     159

        Bloom Syndrome (Bloom-Torre-Mackacek Syndrome; Le-Type Dwarfism; Telangiectasis; Facial Dwarfism)                         [...]

        Cataract, nuclear (coppock cataract; cataract, discoid)                                                                    213

        Cataract, Nuclear (Coppock Cataract; Cataract, Discoid)                               &n [...]

        Alkaptonuria (ochronosis; garrod syndrome)

        Alkaptonuria (Ochronosis; Garrod Syndrome)                                                                                            General: Rare autosomal recessi meolic disease; enzyme homogentisic acid oxidase missing; both sexes a [...]

        Rubinstein-taybi syndrome                                                                                                                   1

        Rubinstein-Taybi Syndrome                                                                                                                   1 General: Inheritance polygenic or multifactorial; rare. Ocular: Antimongoloid slant of lid fissure [...]

        Patterned dystrophy of retinal pigment epithelium                                                                            

        Patterned Dystrophy of Retinal Pigment Epithelium                                                                             General: Autosomal dominant; probably there is a migration of pigment granules in the pigment epithelium, resulting [...]

        Epicanthus                                                                                                                                                 

        Epicanthus                                                                                                                                                  [...]

        Multiple pterygium syndrome, lethal type (pterygium, multiple, lethal type)                              

        Multiple Pterygium Syndrome, Lethal Type (Pterygium, Multiple, Lethal Type)                               General: Autosomal recessi; nonconsanguineous parents; lethal. Ocular: Hypertelorism; epicanthal folds. Clinical: Multiple pter [...]

        Chronic progressive external ophthalmoplegia (cpeo; ophthalmoplegia plus)                              250

        Chronic Progressi External Ophthalmoplegia (CPEO; Ophthalmoplegia Plus)                            &n [...]

        Folling syndrome (phenylketonuria; phenylpyruvic oligophrenia; ikiotia phenylketonuria syndrome)       4

        Folling Syndrome (Phenylketonuria; Phenylpyruvic Oligophrenia; Ikiotia Phenylketonuria Syndrome)       4 General: Rare; autosomal recessi; phenylalanine cannot be conrted to tyrosine; poor prognosis without early diet therapy; both sex [...]

        One-and-a-half syndrome                                                                                                                       

        One-and-a-Half Syndrome                                                                                                                        General: Lesions in medial longitudinal fasciculus and paramedian pontine reticular formation; lat [...]

        Herpes simplex                                                                                                                                          

        Herpes Simplex                                                                                                                                           General: Large, complex deoxyribonucleic acid (DNA) rus. Ocular: Conjunctitis; ker [...]

        Schonenberg syndrome (dwarf-cardiopathy syndrome)                                                                  1

        Schonenberg Syndrome (Dwarf-Cardiopathy Syndrome)                                                                  1 General: Consanguinity and familial occurrence; etiology obscure. Ocular: Blepharophimosis; epicanthal folds; pseudoptosis. [...]

        Ocular vaccinia                                                                                                                                         

        Ocular Vaccinia                                                                                                                                          General: Occurs from virus used for smallpox ccination; transferred from ccination s [...]

        Sneddon disease                                                                                                                                      

        Sneddon Disease                                                                                                                                       General: Lido reticularis; neurologic abnormalities; labile hypertension; apparently auto [...]

        Photosensitivity and sunburn                                                                                                                  

        Photosensitivity and Sunburn                                                                                                                   General: Enhanced responsiness to natural or artificial nonionizing electromagnetic radiation; p [...]

        Retinoschisis (rs)                                                                                                                                    

        Retinoschisis (RS)                                                                                                                                     General: Sex-linked; may not manifest until middle life. Ocular: Intraretinal splitting [...]

        Noonan syndrome (male turner syndrome)                                                                                         8

        Noonan Syndrome (Male Turner Syndrome)                                                                                         8 General: Similar to Turner syndrome, but with normal chromosomal analysis; X-linked dominant inheritance; X-linke [...]

        Ota syndrome (nevus of ota; oculodermal melanocytosis; nevus fuscoceruleus-ophthalmomaxillaris syndrome)                                                                                                                                                 

        Ota Syndrome (Nes of Ota; Oculodermal Melanocytosis; Nes Fuscoceruleus-Ophthalmomaxillaris Syndrome)                                                                                                                                                  [...]

        Migraine (vascular headache)                                                                                                                

        Migraine (scular Headache)                                                                                                                 General: Recurrent attacks of pain in the head; usually unilateral; often familial. Ocular: Abnor [...]

        Dejerine-roussy syndrome (retrolenticular syndrome; dejerine-roussy syndrome; posterior thalamic syndrome; thalamic hyperesthetic anesthesia syndrome; thalamic syndrome)                             352

        Dejerine-Roussy Syndrome (Retrolenticular Syndrome; Dejerine-Roussy Syndrome; Posterior Thalamic Syndrome; Thalamic Hyperesthetic Anesthesia Syndrome; Thalamic Syndrome)             [...]

        Moyamoya disease (multiple progressive intracranial arterial occlusion)                                        

        Moyamoya Disease (Multiple Progressive Intracranial Arterial Occlusion)                                         General: Almost exclusively seen in Japanese infants and children; cerebroscular disorder that results in occlusion of the lar [...]

        Okihiro syndrome                                                                                                                                    

        Okihiro Syndrome                                                                                                                                     General: Autosomal recessi syndrome of Duane syndrome (retraction syndrome). Ocular: Nar [...]

        Mucous membrane pemphigoid                                                                                                              

        Mucous Membrane Pemphigoid                                                                                                               General: Immune mediated disease characterized by autoantibodies to the basement membrane zone at the su [...]

        Plummer-vinson syndrome (sideropenic dysphagia syndrome; paterson-brown-kelly syndrome; waldenstrom-kjellberg syndrome)                                                                                    

        Plummer-Vinson Syndrome (Sideropenic Dysphagia Syndrome; Paterson-Brown-Kelly Syndrome; Waldenstrom-Kjellberg Syndrome)                                                                                     General: Deficiency of tamin B co [...]

        Aminopterin-induced syndrome

        Aminopterin-Induced Syndrome                                                                                                                    General: Teratogenic effect of aminopterin and derivatis on fetus; present at birth; usually fe [...]

        Rud syndrome                                                                                                                                         1

        Rud Syndrome                                                                                                                                         1 General: Etiology unknown; immature ner cells and decreased number of cells; Betz cells i [...]

        Relapsing fever (recurrent fever)                                                                                                       

        Relapsing Fer (Recurrent Fer)                                                                                                        General: Acute infectious disease caused by Borrelia transmitted by lice; characterized by recurrent bou [...]

        Bare lymphocyte syndrome

        Bare Lymphocyte Syndrome General: Rare, sere combined immunodeficiency characterized by the lack of expression of human leukocyte antigen (HLA) A, B, and C antigens with sere T and B deficiency. Ocular: Horizontal nystagmus; candida [...]

        Thanatophoric dwarfism                                                                                                                        1

        Thanatophoric Dwarfism                                                                                                                        1 General: Etiology unknown, but autosomal recessi inheritance is suspected; seen most frequently [...]

        Rhe syndrome (retino-hepato-endocrinologic syndrome)                                                             

        RHE Syndrome (Retino-Hepato-Endocrinologic Syndrome)                                                              General: More common in females. Ocular: Total color blindness; thinning of retinal ssels with atrophy; optic disk pallor; [...]

        Retinal disinsertion syndrome                                                                                                              

        Retinal Disinsertion Syndrome                                                                                                               General: None. Ocular: Subluxation of the lens; microphthalmos; bilateral keratoconus; retinal det [...]

        Submandibular, ocular, and rectal pain with flushing                                                                     1

        Submandibular, Ocular, and Rectal Pain with Flushing                                                                     1 General: Autosomal dominant; brief, sere pain of submandibular, ocular, and rectal areas with flushing of surrounding [...]

        Bietti disease (bietti marginal crystalline dystrophy)                                                                           146

        Bietti Disease (Bietti Marginal Crystalline Dystrophy)                                &nbs [...]

        Corneal snowflake dystrophy                                                                                                                 303

        Corneal Snowflake Dystrophy                                     & [...]

        Andersen-warburg syndrome

        Andersen-Warburg Syndrome (Whitnall-Norman Syndrome; Oligophrenia Microphthalmos  Syndrome; Norrie Disease; Atrophia Oculi Congenital Fetal Iritis Syndrome; Congenital  Progressi Oculo-Acoustico-Cerebral Dysplasia)                                [...]

        Craniofrontonasal dysplasia                                                                                                                    313

        Craniofrontonasal Dysplasia                                     & [...]

        Myotonic dystrophy syndrome (myotonia atrophica syndrome; dystrophia myotonica; curschmann-steinert syndrome)                                                                                                            

        Myotonic Dystrophy Syndrome (Myotonia Atrophica Syndrome; Dystrophia Myotonica; Curschmann-Steinert Syndrome)                                                                                                             General: Rare autosom [...]

        Barre-lieou syndrome (posterior cervical sympathetic syndrome)

        Barre-Lieou Syndrome (Posterior Cervical Sympathetic Syndrome) General: Irritation of the rtebral ner causing circulatory disturbance in the area of the cranial nuclei; fifth and eighth ners mainly invold; trauma and arthritic chan [...]

        Infectious mononucleosis (mononucleosis; epstein-barr virus, acute; acute epstein-barr virus)

        Infectious Mononucleosis (Mononucleosis; Epstein-Barr rus, Acute; Acute Epstein-Barr rus) General: Asymptomatic in childhood; manifested in late adolescence of early adulthood; associated with Burkitt lymphoma and nasopharyngeal carcino [...]

        Diffuse unilateral subacute neuroretinitis syndrome (dusn; unilateral wipeout syndrome; wipeout syndrome)                                                                                                                                                  369

        Diffuse Unilateral Subacute Neuroretinitis Syndrome (DUSN; Unilateral Wipeout Syndrome; Wipeout Syndrome)                       &n [...]

        Lost lens syndrome                                                                                                                                 

        Lost Lens Syndrome                                                                                                                                  General: Occurs when the intraocular lens is completely dislocated into the treous caty, [...]

        Candidiasis                                                                                                                                                 191

        Candidiasis                                         [...]

        Susac syndrome                                                                                                                                       1

        Susac Syndrome                                                                                                                                       1 General: Rare; unknown origin; characterized by the triad of encephalopathy, fluctuation he [...]

        Ward syndrome (epitheliomatous phakomatosis; nevus-jaw cyst syndrome)                               1

        Ward Syndrome (Epitheliomatous Phakomatosis; Nevus-Jaw Cyst Syndrome)                               1 General: Autosomal dominant. Ocular: Hypertelorism; dystopia canthorum; ne of eyelids; congenital cataracts; congenital corneal opacit [...]

        Uveitis masquerade syndrome(s) (vms)                                                                                             

        Uitis Masquerade Syndrome(s) (VMS)                                                                                              General: Uitis masquerade syndrome is a group of disorders that mimic uitis; cells seen may be of noninflam [...]

        Cowden’s disease                                                                                                                                       307

        Cowden’s Disease                                       [...]

        Actinomycosis

        Actinomycosis                                                                                                                                                   General: Gram-positive Actinomyces israelii. Ocular: Hypopyon; conjunctitis; [...]

        Baraitser-winter syndrome

        Baraitser-Winter Syndrome General: X-linked mental retardation, macrosomia, macrocephaly, and obesity syndrome. Ocular: Ptosis; hypertelorism; down-slanting palpebral fissures. Clinical: May be confused with Noonan syndrome; phenotypic [...]

        Ocular toxoplasmosis (toxoplasmic retinochoroiditis; toxoplasmosis)                                             

        Ocular Toxoplasmosis (Toxoplasmic Retinochoroiditis; Toxoplasmosis)                                              General: Parasite infestation caused by Toxoplasma gondii; cell-mediated immunity is belied to be the major defense mechanism [...]

        Xxxxy syndrome                                                                                                                                  1

        XXXXY Syndrome                                                                                                                                  1 General: 49 chromosome anomaly; characterized by mental retardation; hypoplastic male genitalia; [...]

        Chromosome 18 partial deletion (long-arm) syndrome (monosomy 18 partial [long-arm] syndrome; de grouchy syndrome)                                                                                                                            246

        Chromosome 18 Partial Deletion (Long-Arm) Syndrome (Monosomy 18 Partial [Long-Arm] Syndrome; De Grouchy Syndrome)                    &n [...]

        Pericentric syndrome (pericentric inversion of chromosome 11)                                                       

        Pericentric Syndrome (pericentric Inrsion of Chromosome 11)                                                        General: Etiology unknown; leukocyte chromosomes show a pericentric inrsion of chromosome 11. Ocular: Strabismus; [...]

        Retinal cone degeneration                                                                                                                    

        Retinal Cone Degeneration                                                                                                                     General: Autosomal dominant; diffuse cone degeneration; progressive loss of sual acuity; macular [...]

        Alexander disease

        Alexander Disease                                                                                                                                            General: Rare degenerati neurologic disorder characterized by diffuse demyelinatio [...]

        Canalis opticus syndrome                                                                                                                        190

        Canalis Opticus Syndrome                                     &nbs [...]

        9p- syndrome                                                                                                                                            

        9p- Syndrome                                                                                                                                             General: Congenital mental retardation syndrome due to a 9p deletion. Ocular: Mongoloi [...]

        Poliomyelitis (infantile paralysis)                                                                                                           

        Poliomyelitis (Infantile Paralysis)                                                                                                            General: Acute viral infection characterized by rying degrees of neuronal injury, with special l [...]

        Cataract, anterior polar                                                                                                                           203

        Cataract, Anterior Polar                                     &nbs [...]

        Neuronal ceroid lipofuscinosis (neuronal intranuclear inclusion disease; niid)                            8

        Neuronal Ceroid Lipofuscinosis (Neuronal Intranuclear Inclusion Disease; NIID)                            8 General: Probably autosomal recessi. Ocular: Nystagmus; sluggish pupil reaction; restricted ocular moments; optic disk pallor; [...]

        Smith-lemli-opitz syndrome (cerebrohepatorenal syndrome)                                                        

        Smith-Lemli-Opitz Syndrome (Cerebrohepatorenal Syndrome)                                                         General: Autosomal recessi; similarities with trisomy 18 syndrome; prognosis poor, with death in early infancy (see Zellweger [...]

        Annette von droste-hulshoff syndrome

        Annette Von Droste-Hulshoff Syndrome General: Premature birth; pseudo strabismus due to macular ectopia in retinopathy of prematurity. Ocular: Myopia; retinal detachment; negati and positi angle kappa; esotropia; temporal macular ecto [...]

        Jensen disease (juxtapapillary retinopathy)                                                                                         

        Jensen Disease (Juxtapapillary Retinopathy)                                                                                          General: Etiology unknown. Ocular: Circumscribed inflammatory changes of the choroid; field defect. Cli [...]

        Hollenhorst syndrome (chorioretinal infarction syndrome)                                                                5

        Hollenhorst Syndrome (Chorioretinal Infarction Syndrome)                                                                5 General: Caused by inadrtent pressure on the eye by the headrest from faulty positioning of the patient's head during [...]

        Eldridge syndrome                                                                                                                                   

        Eldridge Syndrome                                                                                                                                    General: Autosomal recessi inheritance; also may invol an enzyme deficiency. Ocular: M [...]

        Erb-goldflam syndrome (erb ii syndrome; hoppe-goldflam disease; pseudoparalytic syndrome; myasthenia gravis)                                                                                                                                   

        Erb-Goldflam Syndrome (Erb II Syndrome; Hoppe-Goldflam Disease; Pseudoparalytic Syndrome; Myasthenia Gras)                                                                                                                                    G [...]

        Sympathetic ophthalmia                                                                                                                         1

        Sympathetic Ophthalmia                                                                                                                         1 General: Trauma or injury to one eye and later onset of inflammation in the other eye. Ocular: [...]

        Mucus fishing syndrome                                                                                                                         

        Mucus Fishing Syndrome                                                                                                                          General: Excessive mucus production created by mechanical damage of conjunctil epithelium; epit [...]

        Acanthamoeba

        Acanthamoeba                                                                                                                                                 General: Caused by Acanthamoeba polyphaga and Acanthamoeba sectiunel (see Herpes Sim [...]

        Retinal detachment                                                                                                                                

        Retinal Detachment                                                                                                                                 General: Autosomal dominant; multilayered retinal tissue separates along an interface formed i [...]

        Pseudo-graefe syndrome (fuchs sign)                                                                                                

        Pseudo-Graefe Syndrome (Fuchs Sign)                                                                                                 General: Misdirection of regenerating oculomotor ner (cranial ner III) fibers to other muscles after inju [...]

        Blepharo-naso-facial malformation syndrome                                                                                     154

        Blepharo-Naso-Facial Malformation Syndrome                                  &nbs [...]

        Frankl-hochwart syndrome (pineal-neurologic-ophthalmic syndrome)                                           4

        Frankl-Hochwart Syndrome (Pineal-Neurologic-Ophthalmic Syndrome)                                           4 General: Pineal tumor, usually in early adulthood; poor prognosis. Ocular: Limitation of upward gaze; concentric field constrictio [...]

        Torre-muir syndrome                                                                                                                            

        Torre-Muir Syndrome                                                                                                                             General: Multiple sebaceous gland tumors of nonglabrous skin and sceral malignancy (primarily c [...]

        Sweet syndrome (acute febrile neutrophilic dermatosis)                                                                  1

        Sweet Syndrome (Acute Febrile Neutrophilic Dermatosis)                                                                  1 General: Cause unknown; common in middle-aged women; associated with acute leukemia; acute febrile neutrophilic dermatos [...]

        Optic atrophy, non-leber-type, with early onset                                                                              

        Optic Atrophy, Non-Leber-Type, with Early Onset                                                                               General: Sex-linked; onset early in life. Ocular: Optic atrophy. Clinical: Mental retardation; hyperacti kne [...]

        Schistosomiasis (bilharziasis)                                                                                                                 

        Schistosomiasis (Bilharziasis)                                                                                                                  General: Parasitic infection by Schistosoma mansoni. Ocular: Hyphema; parasite in anterior cham [...]

        Trisomy 20 syndrome                                                                                                                            

        Trisomy 20 Syndrome                                                                                                                             General: Trisomy 20q (duplication) syndrome. Ocular: Oblique palpebral fissures, strabismus. [...]

        Congenital cataract with oxycephaly (tower skull syndrome)                                                          278

        Congenital Cataract with Oxycephaly (Tower Skull Syndrome)                               & [...]

        Coarctation of the aorta                                                                                                                           256

        Coarctation of the Aorta                                     &nbs [...]

        Gaisbock syndrome (emotional polycythemia; stress erythrocytosis)                                                4

        Gaisbock Syndrome (Emotional Polycythemia; Stress Erythrocytosis)                                                4 General: Prevalent in men, hea smokers; associated with emotional tension and stress. Ocular: Afferent pupillary defect; [...]

        Drummond syndrome (idiopathic hypercalcemia; blue diaper syndrome)                                      387

        Drummond Syndrome (Idiopathic Hypercalcemia; Blue Diaper Syndrome)                               [...]

        Nocardiosis                                                                                                                                                

        Nocardiosis                                                                                                                                                 General: Aerobic Actinomycetaceae that may cause a chronic suppurati process; aerob [...]

        Lens-iris diaphram retropulsion syndrome                                                                                         

        Lens-Iris Diaphram Retropulsion Syndrome                                                                                          General: Associated with small incision phacoemulsification Ocular: Infusion of fluid into the anterior cham [...]

        Traumatic encephalopathy syndrome (posttraumatic general cerebral syndrome; postconcussion syndrome; punch-drunk syndrome)                                                                                                    1

        Traumatic Encephalopathy Syndrome (Posttraumatic General Cerebral Syndrome; Postconcussion Syndrome; Punch-Drunk Syndrome)                                                                                                    1 General: Small foc [...]

        Sulfite oxidase deficiency                                                                                                                       1

        Sulfite Oxidase Deficiency                                                                                                                       1 General: Rare abnormality of sulfur meolism in which there is an accumulation of S-sulfocyst [...]

        Rheumatic fever                                                                                                                                     

        Rheumatic Fever                                                                                                                                      General: Streptococcal infection; mechanisms may involve immune cross-reactity between bac [...]

        Oculo-oto-oro-reno-erythropoietic disease                                                                                         

        Oculo-Oto-Oro-Reno-Erythropoietic Disease                                                                                          General: Etiology unknown; slowly progressi course; ocular lesions similar to those of tuberous sclerosis, b [...]

        Hutchinson-gilford syndrome (progeria)                                                                                               5

        Hutchinson-Gilford Syndrome (progeria)                                                                                               5 General: Inheritance unknown; belongs to group of ectodermal dysplasias (see Werner Syndrome-Progeria of Ad [...]

        Water intoxication syndrome (overhydration syndrome)                                                                 1

        Water Intoxication Syndrome (Orhydration Syndrome)                                                                 1 General: Administration of water in excess of kidney excretion capacity; psychogenic water drinker; may be chronic, with sl [...]

        Bieber syndrome                                                                                                                                       143

        Bieber Syndrome                                       & [...]

        Lubarsch-pick syndrome (primary amyloidosis; idiopathic amyloidosis; amyloidosis)                 

        Lubarsch-Pick Syndrome (Primary Amyloidosis; Idiopathic Amyloidosis; Amyloidosis)                  General: Rare condition of unknown etiology; inherited as a dominant trait, with male preponderance; characterized by amyloid accumulation in [...]

        Conjunctivitis, ligneous                                                                                                                            290

        Conjunctitis, Ligneous                                     &nbs [...]

        Craniocleidodysostosis syndrome (cleidocranial dysostosis syndrome; marie-sainton syndrome; scheuthaurer syndrome; hulkcrantz anosteoplasia; mutational dysostosis syndrome)                  311

        Craniocleidodysostosis Syndrome (Cleidocranial Dysostosis Syndrome; Marie-Sainton Syndrome; Scheuthaurer Syndrome; Hulkcrantz Anosteoplasia; Mutational Dysostosis Syndrome)           &n [...]

        Negative acceleration syndrome (hydrostatic pressure syndrome; supersonic bailout syndrome)

        Negative Acceleration Syndrome (Hydrostatic Pressure Syndrome; Supersonic Bailout Syndrome) General: At rapid deceleration, blood volume is shifted to the brain and face of the individual due to rapid eletion of intrascular blood pressu [...]

        Cutis marmorata syndrome (marble skin syndrome)                                                                          338

        Cutis Marmorata Syndrome (Marble Skin Syndrome)                                   [...]

        Oxalosis (primary hyperoxaluria; lepoutre syndrome)                                                                      

        Oxalosis (Primary Hyperoxaluria; Lepoutre Syndrome)                                                                       General: Autosomal recessi and acquired forms; meolic disorders with accumulation of oxalic acid in tissues; type [...]

        Alagille syndrome

        Alagille Syndrome (AGS; Alagille-Watson Syndrome, AWS; Cholestasis with Peripheral Pulmonary Stenosis; Arteriohepatic Dysplasia, AHD; Hepatic Ductular Hypoplasia, Syndromatic)                                          General: May be associa [...]

        W

        W Waardenburg Syndrome (Van Der Hoe-Halberstam-Waardenburg Syndrome; Waardenburg- Klein Syndrome; Embryonic Fixation Syndrome; Interoculo-Iridodermato-Auditi Dysplasia)   1 General: Irregular dominant inheritance; delopment [...]

        Bloom syndrome (bloom-torre-mackacek syndrome; levi-type dwarfism; telangiectasis; facial dwarfism)                                                                                                                                                                     159

        Bloom Syndrome (Bloom-Torre-Mackacek Syndrome; Le-Type Dwarfism; Telangiectasis; Facial Dwarfism)                         [...]

        Raeder syndrome (paratrigeminal paralysis; horton headache; histamine cephalalgia; ciliary neuralgia; cluster headache; periodic migrainous neuralgia)                                                         

        Raeder Syndrome (Paratrigeminal Paralysis; Horton Headache; Histamine Cephalalgia; Ciliary Neuralgia; Cluster Headache; Periodic Migrainous Neuralgia)                                                          General: Interruption of sympat [...]

        Majewski syndrome                                                                                                                                 

        Majewski Syndrome                                                                                                                                  General: Autosomal recessi; normal chromosomes; perinatal mortality; has been suggested to b [...]

        Charcot-marie- tooth disease (progressive neuritic muscular atrophy; progressive peroneal muscular atrophy)                                                                                                                                                     230

        Charcot-Marie- Tooth Disease (Progressi Neuritic Muscular Atrophy; Progressi Peroneal Muscular Atrophy)                      &nbs [...]

        Möbius ii syndrome (congenital facial diplegia; congenital paralysis of the sixth and seventh nerves; congenital oculofacial paralysis; von graefes syndrome)                                                                 

        Möbius II Syndrome (Congenital Facial Diplegia; Congenital Paralysis of the Sixth and Seventh Nerves; Congenital Oculofacial Paralysis; n Graefes Syndrome)                                                                  General: Congenit [...]

        Cerebroretinal vasculopathy                                                                                                                    227

        Cerebroretinal sculopathy                                     & [...]

        Cataract, nuclear (coppock cataract; cataract, discoid)                                                                    213

        Cataract, Nuclear (Coppock Cataract; Cataract, Discoid)                               &n [...]

        Amaurosis fugax syndrome

        Amaurosis Fugax Syndrome                                                                                                                           General: Caused by malignant hypertension; often occurs in association with hea smoking; may [...]

        Cranial nerves, recurrent paresis                                                                                                           309

        Cranial Ners, Recurrent Paresis                                    & [...]

        Anterior capsule contraction syndrome

        Anterior Capsule Contraction Syndrome General: Associated with diabetes mellitus, myotonic muscular dystrophy, uitis, shrinkage of anterior capsular opening after anterior continuous curvilinear capsularhexis Ocular: Uitis, retinitis [...]

        Cocaine intoxication syndrome                                                                                                                258

        Cocaine Intoxication Syndrome                                      [...]

        Meckel syndrome (dysencephalia splanchnocystic syndrome; gruber syndrome)                          7

        Meckel Syndrome (Dysencephalia Schnocystic Syndrome; Gruber Syndrome)                          7 General: Autosomal recessi; ocular manifestations are similar to those of trisomy 13-l5 syndrome. Ocular: Cryptophthalmos; clinical anophth [...]

        Nystagmus, voluntary                                                                                                                               8

        Nystagmus, Voluntary                                                                                                                               8 General: Autosomal dominant; usually is purely horizontal, but it may be rtical or-torsiona [...]

        Epicanthus                                                                                                                                                 

        Epicanthus                                                                                                                                                  General: Autosomal dominant. Ocular: Epicanthus; epiblepharon of upper and lower l [...]

        Cerebro-oculo-facio-skeletal syndrome (cofs syndrome)                                                               226

        Cerebro-Oculo-Facio-Skeletal Syndrome (COFS Syndrome)                               &nbs [...]

        Vestibular paralysis, bilateral                                                                                                                

        Vestibular Paralysis, Bilateral                                                                                                                 General: Infecti process bilaterally affecting the stibular system in any site between the se [...]

        Avulsed retinal vessel syndrome

        Avulsed Retinal Vessel Syndrome General: Visual prognosis good; reports of avulsed retinal ssels not associated with retinal breaks. Ocular: Recurrent vitreous hemorrhages caused by an avulsed retinal ssel, during retinal tear formati [...]

        Congenital tilted disk syndrome                                                                                                            287

        Congenital Tilted Disk Syndrome                                    &nb [...]

        African eye worm disease (loiasis)

        African Eye Worm Disease (Loiasis)                                                                                                              General: Caused by filarial nematode Loa loa; transmitted to humans by diurnally biting flies (de [...]

        Fibrosarcoma                                                                                                                                            

        Fibrosarcoma                                                                                                                                             General: Malignant tumor of fibrous connecti tissue; most commonly seen in persons 30 [...]

        Thompson syndrome                                                                                                                              1

        Thompson Syndrome                                                                                                                              1 General: Autosomal dominant inheritance. Ocular: Congenital optic atrophy; nystagmus; blindness [...]

        Macular dystrophy, concentric annuli (bull's-eye macular dystrophy)                                          

        Macular Dystrophy, Concentric Annuli (Bull's-Eye Macular Dystrophy)                                           General: Autosomal dominant; no male-to-male transmission obserd. Ocular: Dyschromatopsia; foal hyperpigmentation; perifoa [...]

        Hunt syndrome (ramsay-hunt syndrome; geniculate neuralgia; herpes zoster auricularis)        5

        Hunt Syndrome (Ramsay-Hunt Syndrome; Geniculate Neuralgia; Herpes Zoster Auricularis)        5 General: Herpes of the geniculate ganglion; course is prolonged; characterized by sere pain that frequently precedes skin and mucosal lesions a [...]

        Straw peter syndrome (slovenly peter syndrome; struwwelpeter syndrome)                               

        Straw Peter Syndrome (Slovenly Peter Syndrome; Struwwelpeter Syndrome)                                General: Etiology unknown; combination of organic and enronmental factors; affects 5% to 20% of the general school population; in presch [...]

        Abdominal typhus (enteric fever; typhoid fever)

        Abdominal Typhus (Enteric Fever; Typhoid Fever)                                                                                    General: Causative agent, Salmonella typhi. Ocular: Conjunctitis; chemosis; corneal ulcer; tenonitis; par [...]

        Oculodental syndrome (peters syndrome; rutherford syndrome)                                                    

        Oculodental Syndrome (Peters Syndrome; Rutherford Syndrome)                                                     General: Similar to Rieger syndrome and Meyer-Schwickerath-Weyer syndrome; Peters syndrome inherited as autosomal recessi with [...]

        Potter syndrome (renal agenesis syndrome; renofacial syndrome)                                              

        Potter Syndrome (Renal Agenesis Syndrome; Renofacial Syndrome)                                               General: Unknown etiology; may be sere form of the trisomy 18 syndrome; results from prolonged oligohydramnios of any cause. O [...]

        Nystagmus, congenital (congenital idiopathic nystagmus)                                                                  8

        Nystagmus, Congenital (Congenital Idiopathic Nystagmus)                                                                  8 General: Autosomal dominant; pattern of inheritance in congenital nystagmus, whether of the 'motor' or 'sensory' type, [...]

        Thrombocytopenia                                                                                                                                   1

        Thrombocytopenia                                                                                                                                   1 General: Decrease in platelets. Ocular: Retinal hemorrhages; papilledema; sual field defe [...]

        Touraine-solente-gole syndrome (pachydermoperiostosis; acropachyderma; audry ii syndrome; brugsch syndrome; friedrich-erb-arnold syndrome; hehlinger syndrome)                                

        Touraine-Solente-Gole Syndrome (Pachydermoperiostosis; Acropachyderma; Audry II Syndrome; Brugsch Syndrome; Friedrich-Erb-Arnold Syndrome; Hehlinger Syndrome)                                 General: Rare; hereditary; predominant in males; [...]

        Boutonneuse fever (marseilles fever)                                                                                                     167

        Boutonneuse Fer (Marseilles Fer)                                   &nbs [...]

        Ophthalmoplegia, familial static                                                                                                             

        Ophthalmoplegia, Familial Static                                                                                                              General: Autosomal dominant; forms include internal, external, and total ophthalmoplegia. Ocular [...]

        Goldberg disease                                                                                                                                      

        Goldberg Disease                                                                                                                                       General: Unclassified syndrome with features of mucopolysaccharidoses, sphingolipidoses, a [...]

        Pseudohypoparathyroidism syndrome (chronic renal tubular insufficiency syndrome; seabright-bantam syndrome; albright hereditary osteodystrophy)                                               

        Pseudohypoparathyroidism Syndrome (Chronic Renal Tubular Insufficiency Syndrome; Seabright-Bantam Syndrome; Albright Hereditary Osteodystrophy)                                                General: Etiology unknown; autosomal dominant; m [...]

        Stannus cerebellar syndrome                                                                                                               

        Stannus Cerebellar Syndrome                                                                                                                General: Vitamin B (riboflan) deficiency. Ocular: Nystagmus; increased lacrimation; asthenopia; bl [...]

        Vitiligo                                                                                                                                                       1

        Vitiligo                                                                                                                                                       1 General: Patchy depigmentary disorder of the skin; progressi; etiology unknown; [...]

        Albers-schonberg disease

        Albers-Schonberg Disease (Marble Bone Disease; Osteosclerosis Fragilis Generalisata; Osteopetrosis; Osteopoikilosis; Osteosclerosis Congenita Diffusa) General: Simple recessi inheritance, also dominant transmission; benign form is asympto [...]

        Yersiniosis                                                                                                                                                

        Yersiniosis                                                                                                                                                 General: Caused by gram-negati bacilli Yersinia enterocolitica or Yersinia pseudotu [...]

        Vincent infection (gingivitis; trench mouth)                                                                                       1

        Vincent Infection (Gingitis; Trench Mouth)                                                                                       1 General: Onset usually sudden; remission, but may reoccur; young adults. Ocular: Conjunctitis; corneal ul [...]

        D

        D Danbolt-Closs Syndrome (Acrodermatitis Enteropathica; Brandt Syndrome)                         &n [...]

        Stanesco syndrome (stanesco dysostosis syndrome; osteochondrosis-osteopetrosis)                     1

        Stanesco Syndrome (Stanesco Dysostosis Syndrome; Osteochondrosis-Osteopetrosis)                     1 General: Autosomal dominant; present from birth; both sexes affected. Ocular: Exophthalmos. Clinical: Small stature; brachycephaly; dep [...]

        Nance-horan syndrome                                                                                                                           

        Nance-Horan Syndrome                                                                                                                            General: Rare; X-linked oculodental trait; occurs in both sexes; present from birth. Ocular: P [...]

        Goltz syndrome (focal dermal hypoplasia syndrome)                                                                       

        Goltz Syndrome (Focal Dermal Hypoplasia Syndrome)                                                                        General: X-linked dominant inheritance; lethal in males; skin manifestations present at birth. Ocular: Microphthalmia [...]

        Color blindness, blue-mono-cone monochromatic type                                                                     269

        Color Blindness, Blue-Mono-Cone Monochromatic Type                                 &n [...]

        Macular dystrophy ectodermal dysplasia and ectrodactyly (eem syndrome)                                 

        Macular Dystrophy ectodermal Dysplasia and Ectrodactyly (EEM syndrome)                                  General: Associated with abetaloproteinemia Ocular: Macular dystrophy; hypotroichosis; treous hemorrhage; persistant hyloid artery [...]

        Van bogaert-hozay syndrome                                                                                                              

        n Bogaert-Hozay Syndrome                                                                                                               General: Manifest after age 3 years; similar to Rubinstein-Taybi syndrome; etiology unknown; affects bot [...]

        Pierre-robin syndrome (robin syndrome; micrognathia-glossoptosis syndrome)                         

        Pierre-Robin Syndrome (Robin Syndrome; Micrognathia-Glossoptosis Syndrome)                          General: Etiology unknown; manifestations at birth; pathogenesis based on arrested fetal delopment; history of intrauterine disturbance in [...]

        Cone dysfunction syndrome (achromatopsia)                                                                                      273

        Cone Dysfunction Syndrome (Achromatopsia)                                    [...]

        Distichiasis (distichiasis with congenital anomalies of the heart and peripheral vasculature)        376

        Distichiasis (Distichiasis with Congenital Anomalies of the Heart and Peripheral sculature)        376 General: Autosomal dominant. Ocular: Double rows of eyelashes; congenital ectropi [...]

        Kugelberg-welander syndrome (juvenile muscular atrophy)                                                            6

        Kugelberg-Welander Syndrome (Junile Muscular Atrophy)                                                            6 General: Autosomal recessi; junile spinal muscular atrophy; affects both sexes; onset in late childhood or adolescence. [...]

        R

        R Radiation Injury (Gamma Rays; Infrared Rays; Microwaves; Radio Waves; X-Rays)                   General: Electromagnetic radiation can cause ionization in biologic tissues. Ocular: Hyperemia of conjuncti; corneal ulcer; pun [...]

        Steele-richardson-olszewski syndrome (progressive supranuclear palsy)                                      

        Steele-Richardson-Olszewski Syndrome (Progressi Supranuclear Palsy)                                       General: Ner cell degeneration centered in the brainstem; resemblance to Lhermitte pyramidopallidal syndrome and to Jakob disease [...]

        Ocular vaccinia                                                                                                                                         

        Ocular Vaccinia                                                                                                                                          General: Occurs from virus used for smallpox ccination; transferred from ccination s [...]

        Okihiro syndrome                                                                                                                                    

        Okihiro Syndrome                                                                                                                                     General: Autosomal recessi syndrome of Duane syndrome (retraction syndrome). Ocular: Nar [...]

        Nematode ophthalmia syndrome (visceral larva migrans syndrome; toxocariasis)                     

        Nematode Ophthalmia Syndrome (Visceral Larva Migrans Syndrome; Toxocariasis)                      General: Usually found in children; invasion by larvae of Toxocara canis and Toxocara cati of scera and eyes; pronounced eosinophilia; as ma [...]

        Triangular syndrome                                                                                                                             

        Triangular Syndrome                                                                                                                              General: Rare; follows trauma of excessi compression during surgery, such as Faden operation. [...]

        X

        X X Chromosomal Deletion                                                                                                                        General: Deletion of proximal part of long arm of the X chromosome; deletion cors pa [...]

        Chromosome 11 long-arm deletion syndrome                                                                                     244

        Chromosome 11 Long-Arm Deletion Syndrome                                    [...]

        Subclavian steal syndrome                                                                                                                     1

        Subclaan Steal Syndrome                                                                                                                     1 General: Reversal of blood flow through the vertebral artery caused by stenosis of one subclaan [...]

        Proteus infections                                                                                                                                    

        Proteus Infections                                                                                                                                     General: Gram-negati bacilli found in water, soil, and decaying organic substances. O [...]

        Corneal dystrophy, hereditary polymorphous posterior (pcd)                                                          298

        Corneal Dystrophy, Hereditary Polymorphous Posterior (PCD)                               & [...]

        Temporal arteritis syndrome (cranial arteritis syndrome; giant cell arteritis; hutchinson-horton-magath-brown syndrome)                                                                                                                                   

        Temporal Arteritis Syndrome (Cranial Arteritis Syndrome; Giant Cell Arteritis; Hutchinson-Horton-Magath-Brown Syndrome)                                                                                                                                   [...]

        Shigellosis (bacillary dysentery)                                                                                                             1

        Shigellosis (Bacillary Dysentery)                                                                                                             1 General: Caused by Shigella; frequently passed through food and a food handlers; more commonly s [...]

        Hilding syndrome (destructive iridocyclitis and multiple joint dislocations)                                     5

        Hilding Syndrome (Destructi Iridocyclitis and Multiple Joint Dislocations)                                     5 General: Atrophy of body cartilages and joint dislocations without destruction of bone or joint surfaces. Ocular: Sere oc [...]

        Trisomy 13 syndrome (trisomy dl syndrome, patau syndrome, reese syndrome)                      

        Trisomy 13 Syndrome (Trisomy Dl Syndrome, Patau Syndrome, Reese Syndrome)                       General: Extra chromosome in the D group; fatal in the first few months of life; trisomy 13-l5 resembles trisomy D1. Ocular: Anophthalmia; mi [...]

        Gorlin-chaudhry-moss syndrome                                                                                                         

        Gorlin-Chaudhry-Moss Syndrome                                                                                                          General: Etiology unknown. Ocular: Microphthalmia; hypertelorism; depressed supraorbital ridges; inabili [...]

        Aarskog syndrome (facial-digital-genital syndrome)

        Aarskog Syndrome (Facial-Digital-Genital Syndrome)                                                                                General: X-linked recessi; males fully affected; females exhibit partial features; normal birth weight and le [...]

        Mulvihill-smith syndrome                                                                                                                       

        Mulvihill-Smith Syndrome                                                                                                                        General: Progeroid disorder. Ocular: Keratoconus; conjunctivitis. Clinical: Patients ha sh [...]

        Matsoukas syndrome (oculo-cerebro-articulo-skeletal syndrome)                                                   7

        Matsoukas Syndrome (Oculo-Cerebro-Articulo-Skeletal Syndrome)                                                   7 General: Autosomal dominant; some of the features are found in Larsen syndrome, Schwartz syndrome, Hallermann-Streiff syndrome, [...]

        Pseudoprogeria syndrome                                                                                                                     

        Pseudoprogeria Syndrome                                                                                                                      General: Rare; autosomal recessi; absent eyebrows and eyelashes with mental retardation. Ocular [...]

        Juvenile xanthogranuloma (jxg; nevoxanthoendothelioma)                                                              6

        Junile Xanthogranuloma (JXG; Nevoxanthoendothelioma)                                                              6 General: Childhood disease; unknown etiology. Ocular: Ual tract tumor presenting as spontaneous hyphema; secondary glau [...]

        Visual disorientation syndrome (riddoch syndrome)                                                                        1

        Visual Disorientation Syndrome (Riddoch Syndrome)                                                                        1 General: Parietal lobe lesion. Ocular: Visual agnosia; stereoscopic sion and central sion unimpaired; homonymous [...]

        Adie syndrome

        Adie Syndrome (Holmes-Adie Syndrome; Markus Syndrome; Saenger Syndrome; Tonic Pupil;  Iridoplegia Interna; Myotonic Pupil; Pseudotonic Pupillotonia; Weill-Reys Syndrome;  Ross Syndrome) General: Cause unknown; more frequent in females; manif [...]

        Iris retraction syndrome (posterior synechiae and iris retraction syndrome)                                

        Iris Retraction Syndrome (Posterior Synechiae and Iris Retraction Syndrome)                                 General: Rhegmatogenous retinal detachment, hypotony, and retrodisplacement of the iris with seclusion of the pupil, often associate [...]

        Koerber-salus-elschnig syndrome (sylvian aqueduct syndrome; nystagmus retractorius syndrome)       6

        Koerber-Salus-Elschnig Syndrome (Sylvian Aqueduct Syndrome; Nystagmus Retractorius Syndrome)       6 General: Caused by tumor or inflammation in region of aqueduct of Sylvius, third and fourth ntricle, or corpora quadrigemina. Ocular: L [...]

        Nielsen syndrome (exhaustive psychosis syndrome; neuromuscular exhaustion syndrome)         8

        Nielsen Syndrome (Exhausti Psychosis Syndrome; Neuromuscular Exhaustion Syndrome)         8 General: Chronic infections; postoperati phases frequently are associated with extreme stress and fatigue; similar manifestations often ha been [...]

        Ophthalmopathic syndrome (thyrohypophysial syndrome)                                                               

        Ophthalmopathic Syndrome (Thyrohypophysial Syndrome)                                                                General: Exophthalmos, usually bilateral; pituitary hypersecretion or enhanced tissue sensitity to exophthalmos-producing f [...]

        Mucormycosis (phycomycosis)                                                                                                                 

        Mucormycosis (Phycomycosis)                                                                                                                  General: Acute, often fatal infection caused by saprophytic fungi; associated with diabetes mellitus [...]

        Suprarenal sympathetic syndrome (pheochromocytoma syndrome; adrenal sympathetic syndrome; adrenal medulla tumor syndrome)                                                                                                     1

        Suprarenal Sympathetic Syndrome (Pheochromocytoma Syndrome; Adrenal Sympathetic Syndrome; Adrenal Medulla Tumor Syndrome)                                                                                                     1 General: Tumors p [...]

        Paine syndrome                                                                                                                                        

        Paine Syndrome                                                                                                                                         General: Microcephaly-spastic diplegia; occurs only in males; onset from birth; sex-linked [...]

        Leukemia                                                                                                                                                   

        Leukemia                                                                                                                                                    General: Acute or chronic blood disorder. Ocular: Engorgement of conjunctival sse [...]

        F

        F Fabry Disease (Angiokeratoma Corporis Diffusum Syndrome; Diffuse Angiokeratosis; Fabry-Anderson Syndrome; Glycosphingolipid Lipidosis; Glycosphingolipidosis)                                                          General: Li [...]

        Karsch-neugebauer syndrome (nystagmus-split hand syndrome)                                                   

        Karsch-Neugebauer Syndrome (Nystagmus-Split Hand Syndrome)                                                    General: Autosomal dominant. Ocular: Horizontal nystagmus; strabismus; cataract; fundus changes. Clinical: Split hand and spl [...]

        Lewis syndrome (tuberoserpiginous syphilid of lewis)                                                                      

        Lewis Syndrome (Tuberoserpiginous Syphilid of Lewis)                                                                       General: Lesions more common on nose and ears but may invol eyelids primarily; clinical manifestations are similar t [...]

        Gopalan syndrome (burning feet syndrome; nutritional melalgia syndrome)                               

        Gopalan Syndrome (Burning Feet Syndrome; Nutritional Melalgia Syndrome)                                General: Female preponderance; onset age 20 to 40 years; pantothenic acid deficiency; lack of nicotinic acid, and low-protein diet are co [...]

        Hydrophobia (lyssa; rabies)                                                                                                                  

        Hydrophobia (Lyssa; Rabies)                                                                                                                   General: Acute viral zoonosis of the central nerus system. Ocular: Lid retraction; widening of [...]

        Alport syndrome

        Alport Syndrome (Hereditary Familial Congenital Hemorrhagic Nephritis; Hereditary Nephritis;  Familial Nephritis) General: Autosomal dominant inheritance; early death in males; normal life span in females. Ocular: Anterior lenticonus (bil [...]

        Acrodermatitis chronica atrophicans

        Acrodermatitis Chronica Atrophicans                                                                                                           General: Rare familial skin disorder; autosomal recessi; both sexes equally affected; occurs in i [...]

        Retinal ischemic syndrome                                                                                                                    

        Retinal Ischemic Syndrome                                                                                                                     Ocular: Bilateral conjunctil injection; iris rubeosis; posterior synechia; retinal scular tortu [...]

        Keratitis fugax hereditaria                                                                                                                      6

        Keratitis Fugax Hereditaria                                                                                                                      6 General: Autosomal dominant; onset from age 4 to 12 years; characterized by acute attacks of ke [...]

        C

        C C Syndrome (Opitz Trigonocephaly Syndrome; Trigonocephaly Syndrome)                         [...]

        Acne rosacea (acne erythematosa; ocular rosacea)

        Acne Rosacea (Acne Erythematosa; Ocular Rosacea)                                                                                 General: Etiology unknown; usually occurs in women 30 to 50 years of age; pathogenetic mechanism remains unclear [...]

        Pfeiffer syndrome                                                                                                                                    

        Pfeiffer Syndrome                                                                                                                                     General: Congenital craniosynostotic syndrome with a high rate of mortality shortly after b [...]

        Scaphocephaly syndrome                                                                                                                       1

        Scaphocephaly Syndrome                                                                                                                       1 General: Craniofacial dysostoses with failure in the delopment of the primiti mesoderm; facial [...]

        Kirk syndrome                                                                                                                                          6

        Kirk Syndrome                                                                                                                                          6 General: Etiology unknown; raised hereditary masses or central cornea; rare, only one f [...]

        Wolf-hirschhorn syndrome                                                                                                                   1

        Wolf-Hirschhorn Syndrome                                                                                                                   1 General: Partial deletion of the short arm of chromosome 4 (4p) Ocular: exodeation; nasolacrimal [...]

        Barlow syndrome (mitral valve prolapse)

        Barlow Syndrome (Mitral Valve Prolapse) General: Common; usually benign; asymptomatic; predominant in females; gue with psychoneurotic basis. Ocular: Retinal branch arterial occlusion; retinal emboli; keratoconus; ophthalmic migraine; [...]

        Microcephaly, microphthalmia, cataracts, and joint contractures                                                   

        Microcephaly, Microphthalmia, Cataracts, and Joint Contractures                                                    General: Autosomal dominant; ocular features like Hagberg-Santaori syndrome. Ocular: Microphthalmia; cataracts; hypopigme [...]

        Blepharoptosis, myopia, ectopia lentis                                                                                                  156

        Blepharoptosis, Myopia, Ectopia Lentis                                   &n [...]

        Berardinelli-seip syndrome (congenital generalized lipodystrophy)                                                140

        Berardinelli-Seip Syndrome (Congenital Generalized Lipodystrophy)                             &nbs [...]

        Pityriasis rubra pilaris (kaposi disease [2]; devergie disease; hebra disease; tarral-besnier disease; lichen ruber; lichen ruber acuminatus; pityriasis pilaris)                                                9

        Pityriasis Rubra Pilaris (Kaposi Disease [2]; Dergie Disease; Hebra Disease; Tarral-Besnier Disease; Lichen Ruber; Lichen Ruber Acuminatus; Pityriasis Pilaris)                                                9 General: Abnormal keratinizat [...]

        Scalded skin syndrome (toxic epidermal necrolysis; ritter disease; toxic epidermal necrolysis of lyell; staphylococcal scalded skin syndrome; lyell syndrome; epidermolysis acuta toxica; toxic epidermal necrolysis)                                                                                                                   1

        Scalded Skin Syndrome (Toxic Epidermal Necrolysis; Ritter Disease; Toxic Epidermal Necrolysis of Lyell; Staphylococcal Scalded Skin Syndrome; Lyell Syndrome; Epidermolysis Acuta Toxica; Toxic Epidermal Necrolysis)                                [...]

        Ectrodactyly, ectodermal dysplasia, clefting syndrome (eec syndrome)                                        399

        Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC Syndrome)                             &nb [...]

        Albinism (brown oculocutaneous albinism; nettleship falls syndrome)

        Albinism (Brown Oculocutaneous Albinism; Nettleship Falls Syndrome)                                                  General: Congenital hypopigmentation. 1. Complete. Ocular: Iris thin, pale blue; prominent choroidal ssels with poorl [...]

        Multiple sulfatase deficiency                                                                                                                   

        Multiple Sulfatase Deficiency                                                                                                                    General: Autosomal recessi Ocular Congenital peripheral cataract; retinal degeneration; che [...]

        Brittle cornea syndrome (brittle cornea, blue sclera and red hair syndrome; blue sclera syndrome)     174

        Brittle Cornea Syndrome (Brittle Cornea, Blue Sclera and Red Hair Syndrome; Blue Sclera Syndrome)     174 General: Autosomal recessi; rare. Ocular: Spontaneous perforation of cornea ( [...]

        Peters anomaly                                                                                                                                         

        Peters Anomaly                                                                                                                                          General: Autosomal recessi; may be morphologic entity with seral eye syndromes, inclu [...]

        Deerfly fever (francis disease; rabbit fever; tularemia; deerfly tularemia)                                 348

        Deerfly Fer (Francis Disease; Rabbit Fer; Tularemia; Deerfly Tularemia)                            &n [...]

        Weissenbacher-zweymuller syndrome                                                                                                 

        Weissenbacher-Zweymuller Syndrome                                                                                                  General: Probably neonatal expression of Stickler syndrome; autosomal dominant. Ocular: Myopia; congenital g [...]

        Iris neovascularization with pseudoexfoliation syndrome                                                                   

        Iris Neovascularization with Pseudoexfoliation Syndrome                                                                    General: Anoxia secondary to iris ssel obstruction; electron microscopic studies real endothelial thickening with [...]

        Feer syndrome (swift-feer syndrome; infantile acrodynia; acrodynia; pink disease)                   4

        Feer Syndrome (Swift-Feer Syndrome; Infantile Acrodynia; Acrodynia; Pink Disease)                   4 General: Etiology unknown, possibly allergic reaction to mercury or infection; onset in early childhood; both sexes equally affected. Oc [...]

        Amyloidosis of gingiva and conjunctiva, with mental retardation

        Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation (Primary Systemic Amyloidosis)   General: Autosomal recessi; primary amyloidosis differs from secondary by the mesodermal tissues being affected and nodular form of deposits [...]

        Longfellow-graether syndrome                                                                                                             

        Longfellow-Graether Syndrome                                                                                                              General: Rare; etiology unknown. Ocular: Grossly dilated retinal ins; intermittent attacks of unioc [...]

        Fuchs-lyell syndrome (debré-lamy-lyell syndrome; toxic epidermal necrolysis)                        4

        Fuchs-Lyell Syndrome (Debré-Lamy-Lyell Syndrome; Toxic Epidermal Necrolysis)                        4 General: Allergic reaction with sere manifestations; similar to Fuchs-Salzmann- Terrien syndrome (see Fuchs-Salzmann-Terrien Syndrome); m [...]

        Iris dysplasia hypertelorism-psychomotor retardation syndrome                                                    

        Iris Dysplasia Hypertelorism-Psychomotor Retardation Syndrome                                                     General: Autosomal dominant inheritance; some features in common with Rieger syndrome. Ocular: Hypertelorism; telecanthus; [...]

        Cataract, congenital total with posterior sutural opacities                                                                206

        Cataract, Congenital Total with Posterior Sutural Opacities                              &nbs [...]

        Cataract, floriform                                                                                                                                   209

        Cataract, Floriform                                      &nb [...]

        Corneo-dermato-osseous syndrome (cdo syndrome; corneal dystrophy, epithelial with skin and skeletal changes)                                                                                                                                       304

        Corneo-Dermato-Osseous Syndrome (CDO Syndrome; Corneal Dystrophy, Epithelial with Skin and Skeletal Changes)                       [...]

        Papilloma (wart; verruca)                                                                                                                      

        Papilloma (Wart; Verruca)                                                                                                                       General: Cutaneous or mucosal tumor of proliferating epithelial and fibrovascular tissues; ral [...]

        Bardet-biedl syndrome

        Bardet-Biedl Syndrome General: Polydactyly; obesity; cogniti delay; retinal degeneration; nystagmus. Ocular: 30% to 65% of patients ha clinical nystagmus that may mimic spasmus nutans but either lacks head nodding or is not suppressed [...]

        Citrullinemia                                                                                                                                               252

        Citrullinemia                                       &nb [...]

        Muscular dystrophy, congenital, with infantile cataract and hypogonadism                                 

        Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism                                  General: Autosomal recessive; rare; reported in isolated Norwegian village. Ocular: Infantile cataract. Clinical: Orian agenesi [...]

        Ankylostomiasis (hookworm disease)

        Ankylostomiasis (Hookworm Disease)                                                                                                           General: Causati agents include Necator americanus, Ancylostoma duodenale, Ancylostoma braziliense [...]

        Sturge-weber syndrome (meningocutaneous syndrome; vascular encephalotrigeminal syndrome; neuro-oculocutaneous angiomatosis; encephalofacial angiomatosis; encephalotrigeminal syndrome)                                                                                                                                                                   1

        Sturge-Weber Syndrome (Meningocutaneous Syndrome; scular Encephalotrigeminal Syndrome; Neuro-Oculocutaneous Angiomatosis; Encephalofacial Angiomatosis; Encephalotrigeminal Syndrome)                                                                [...]

        Little syndrome (nail-patella syndrome; hereditary osteo-onycho-dysplasia; hood syndrome)

        Little Syndrome (Nail-Patella Syndrome; Hereditary Osteo-Onycho-Dysplasia; HOOD Syndrome) General: Inherited as autosomal dominant; affects males and females equally. Ocular: Hypertelorism; ptosis; epicanthus; microcornea; keratoconus; s [...]

        Postvaccinial ocular syndrome                                                                                                             

        Postccinial Ocular Syndrome                                                                                                              General: Immediate contamination and inoculation or as a delayed reaction; incubation time 3 days. [...]

        Fat adherence syndrome                                                                                                                        

        Fat Adherence Syndrome                                                                                                                         General: Presence of a scar or adhesion that originates in extraconal fat and extends through Teno [...]

        Central nervous system deficiency syndrome (garland syndrome; spillan-scott syndrome)        218

        Central Nerus System Deficiency Syndrome (Garland Syndrome; Spillan-Scott Syndrome)        218 General: Cause unknown; found in prisoners who had long been on a deficient diet; no [...]

        Optic pit syndrome                                                                                                                                   

        Optic Pit Syndrome                                                                                                                                    General: Congenital. Ocular: Serous detachment of macula; situs inrsus; peripapillary [...]

        Senter syndrome (keratitis-ichthyosis-deafness syndrome; kid syndrome; ichthyosiform erythroderma, corneal involvement, and deafness                                                                           

        Senter Syndrome (Keratitis-Ichthyosis-Deafness Syndrome; KID Syndrome; Ichthyosiform Erythroderma, Corneal Involment, and Deafness                                                                            General: Autosomal recessi. [...]

        Cogan (1) syndrome (nonsyphilitic interstitial keratitis)                                                                      262

        Cogan (1) Syndrome (Nonsyphilitic Interstitial Keratitis)                               &n [...]

        Monbrun-benisty syndrome (ocular stump causalgia)                                                                      

        Monbrun-Benisty Syndrome (Ocular Stump Causalgia)                                                                       General: Sympathetic irritation of resected sympathetic fiber to the eye; occurs after trauma of eye. Ocular: Sere r [...]

        Retinoschisis, acquired (acquired retinoschisis [rs])                                                                       

        Retinoschisis, Acquired (Acquired Retinoschisis [RS])                                                                        General: Present in 4% to 22% of normal population or age 40 years; splitting in the outer plexiform layer; occasi [...]

        Dracontiasis (dracunculosis; guinea worm infection; dracunculiasis)                                              385

        Dracontiasis (Dracunculosis; Guinea Worm Infection; Dracunculiasis)                             &nbs [...]

        Trisomy 21q- syndrome (21q deletion syndrome)                                                                              

        Trisomy 21q- Syndrome (21q Deletion Syndrome)                                                                               General: Chromosome 21q deletion syndrome. Ocular: Blepharochalasis; microphthalmia with persistent hypoplastic pri [...]

        Plasma lecithin deficiency (cholesterol acyltransferase deficiency)                                                  9

        Plasma Lecithin Deficiency (Cholesterol Acyltransferase Deficiency)                                                  9 General: Autosomal recessi. Ocular: Corneal stromal opacities comprising small gray dots in central and peripheral ar [...]

        Nance-horan syndrome                                                                                                                           

        Nance-Horan Syndrome                                                                                                                            General: Rare; X-linked oculodental trait; occurs in both sexes; present from birth. Ocular: P [...]

        Niacin overdose (nicotinic acid overdose)                                                                                             8

        Niacin Overdose (Nicotinic Acid Overdose)                                                                                             8 General: B vitamin used in large doses to lower serum cholesterol and triglyceride levels or as a sodila [...]

        Amniogenic band syndrome (ring constriction; streeter dysplasia)

        Amniogenic Band Syndrome (Ring Constriction; Streeter Dysplasia)                                                       General: Caused by fetus swallowing one or more of the free-floating strands that result from amniotic rupture; the tensi [...]

        Acosta syndrome (mountain sickness; mountain climber syndrome; monge syndrome; soroche syndrome)

        Acosta Syndrome (Mountain Sickness; Mountain Climber Syndrome; Monge Syndrome;  Soroche Syndrome)                                                                                                                                                         [...]

        Carotid artery syndrome (cavernous sinus fistula syndrome; red-eyed shunt syndrome)         201

        Carotid Artery Syndrome (Carnous Sinus Fistula Syndrome; Red-Eyed Shunt Syndrome)         201 General: Senty-fi percent of cases caused by trauma; others occur spontaneous [...]

        Progressive external ophthalmoplegia and scoliosis                                                                          

        Progressi External Ophthalmoplegia and Scoliosis                                                                           General: Rare; isolated muscle dystrophic involment of extraocular muscles; onset in childhood or early adulthood; [...]

        Lacrimo-auriculo-dento-digital syndrome (ladd-levy-hollister syndrome)                                  

        Lacrimo-Auriculo-Dento-Digital Syndrome (Ladd-Levy-Hollister Syndrome)                                   General: Autosomal dominant; all features ha been reported as isolated traits. Ocular: Aplasia or hypoplasia of puncta; obstruction [...]

        Webino syndrome (wall-eyed bilateral internuclear ophthalmoplegia)                                      1

        WEBINO Syndrome (Wall-Eyed Bilateral Internuclear Ophthalmoplegia)                                      1 General: Differential diagnosis includes demyelinating disease, arteriosclerotic cerebroscular disease, trauma, Arnold-Chiari malform [...]

        Clostridium perfringens                                                                                                                            255

        Clostridium Perfringens                                       [...]

        Marshall (d) syndrome (atypical ectodermal dysplasia)                                                                     7

        Marshall (D) Syndrome (Atypical Ectodermal Dysplasia)                                                                     7 General: Autosomal dominant; riant of ectodermal dysplasia; onset at birth. Ocular: Myopia; congenital cataract (s [...]

        Glaucoma, hereditary juvenile                                                                                                               

        Glaucoma, Hereditary Junile                                                                                                                General: Autosomal dominant, present at birth; there has been linkage with chromosome 1q21q23; age a [...]

        Congenital cataracts facial dysmorphism neuropathy syndrome                                                     276

        Congenital Cataracts Facial Dysmorphism Neuropathy Syndrome                                [...]

        Pituitary dysfunction and chorioretinopathy (cpd syndrome; chorioretinopathy and pituitary dysfunction)                                                                                                                                                                     9

        Pituitary Dysfunction and Chorioretinopathy (CPD Syndrome; Chorioretinopathy and Pituitary Dysfunction)                                                                                                                                                   [...]

        Pelizaeus-merzbacher disease (aplasia axialis extracorticalis congenita; sudanophilic leukodystrophy)                                                                                                                                       

        Pelizaeus-Merzbacher Disease (Aplasia Axialis Extracorticalis Congenita; Sudanophilic Leukodystrophy)                                                                                                                                        Ge [...]

        Brill-symmers disease (lymphosarcoma; giant follicular lymphoma)                                             173

        Brill-Symmers Disease (Lymphosarcoma; Giant Follicular Lymphoma)                               [...]

        Pugh syndrome                                                                                                                                       

        Pugh Syndrome                                                                                                                                        General: May be misdiagnosed as UGH (uitis, glaucoma, hyphemas) syndrome; unrelated to the [...]

        Lipodystrophy (kobberling-dunnigan syndrome)                                                                               

        Lipodystrophy (Kobberling-Dunnigan Syndrome)                                                                                General: Disturbance of the fat meolism; autosomal dominant; affects females predominantly; occurs at puberty. [...]

        Gaucher syndrome (glucocerebroside storage disease; glucosyl ceramide lipidosis; cerebroside lipidosis)                                                                                                                                                    

        Gaucher Syndrome (Glucocerebroside Storage Disease; Glucosyl Ceramide Lipidosis; Cerebroside Lipidosis)                                                                                                                                                 [...]

        Vitamin a deficiency                                                                                                                               1

        Vitamin A Deficiency                                                                                                                               1 General: Worldwide cause of blindness; onset in childhood; dietary tamin A insufficiency; i [...]

        Blackwater fever                                                                                                                                       150

        Blackwater Fer                                        [...]

        Camak syndrome (cataract, microcephaly, arthrogryposis, kyphosis syndrome)                       188

        CAMAK Syndrome (Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome)                       188 General: Lo [...]

        Pseudo-pseudo-foster kennedy syndrome                                                                                         

        Pseudo-Pseudo-Foster Kennedy Syndrome                                                                                          General: Mimic disease of Pseudo-Foster Kennedy Syndrome consisting of ischemic optic neuropathy and meningioma. [...]

        Pulmonary insufficiency                                                                                                                        

        Pulmonary Insufficiency                                                                                                                         General: Eleted CO2 levels. Ocular: Tortuosity of conjunctil and retinal sculature; retin [...]

        Chediak-higashi syndrome (anomalous leukocytic inclusions with constitutional stigmata)        234

        Chediak-Higashi Syndrome (Anomalous Leukocytic Inclusions with Constitutional Stigmata)        234 General: Occurs in albinoid siblings born of consanguineous parents; tyrosinase-pos [...]

        Degos syndrome (malignant atrophic papulosis; degos-delort-tricot syndrome; cutaneointestinal syndrome; kolmeier-degos syndrome)                                                                                                  349

        Degos Syndrome (Malignant Atrophic Papulosis; Degos-Delort-Tricot Syndrome; Cutaneointestinal Syndrome; Kolmeier-Degos Syndrome)                  &nbs [...]

        Vitreoretinochoroidopathy (vrcp; autosomal dominant vitreoretinochoroidopathy; advirc) 1

        Vitreoretinochoroidopathy (VRCP; Autosomal Dominant Vitreoretinochoroidopathy; ADRC) 1 General: Autosomal dominant. Ocular: Chorioretinal hypopigmentation or hyperpigmentation; preretinal punctate opacities; retinal arteriolar narrowing [...]

        Rieger syndrome (axenfeld-rieger syndrome; dysgenesis mesodermalis corneae et irides; dysgenesis mesostromalis; axenfeld posterior embryotoxon-juvenile glaucoma)                         

        Rieger Syndrome (Axenfeld-Rieger Syndrome; Dysgenesis Mesodermalis Corneae et Irides; Dysgenesis Mesostromalis; Axenfeld Posterior Embryotoxon-Junile Glaucoma)                          General: Autosomal dominant; neural crest abnormalit [...]

        Tourette syndrome (gilles de la tourette syndrome; brissaud ii syndrome; caprolalia generalized tic; guinon myospasia impulsiva)                                                                                                        1

        Tourette Syndrome (Gilles de la Tourette Syndrome; Brissaud II Syndrome; Caprolalia Generalized Tic; Guinon Myospasia Impulsi)                                                                                                        1 Genera [...]

        Riley-smith syndrome (bannayan-riley-ruvalcaba syndrome)                                                       

        Riley-Smith Syndrome (Bannayan-Riley-Rulcaba Syndrome)                                                        General: Etiology unknown; possibly heterozygous condition (single autosomal gene); macrocephaly-pseudopapilledema-multiple hema [...]

        Naffziger syndrome (scalenus anticus syndrome)                                                                               

        Naffziger Syndrome (Scalenus Anticus Syndrome)                                                                                General: Compression of brachial plexus and subclavian artery by scalenus anticus muscle; symptoms ry from mild, [...]

        Pigmentary ocular dispersion syndrome (pigmentary glaucoma)                                                    

        Pigmentary Ocular Dispersion Syndrome (Pigmentary Glaucoma)                                                     General: Polygenic inheritance; onset at arage age 52 years; distribution of pigment in chamber angle; atrophy of posterior ir [...]

        L

        L Lacrimal Duct Defect                                                                                                                                General: Autosomal dominant. Ocular: Imperforate nasolacrimal ducts with or wi [...]

        Oral-facial-digital syndrome (ofds)                                                                                                    

        Oral-Facial-Digital Syndrome (OFDS)                                                                                                     General: Group of syndromes characterized by congenital anomalies of the oral caty, face, and digits; s [...]

        Weber syndrome (weber-dubler syndrome; cerebellar peduncle syndrome; alternating oculomotor paralysis; ventral medial midbrain syndrome)                                                                                   1

        Weber Syndrome (Weber-Dubler Syndrome; Cerebellar Peduncle Syndrome; Alternating Oculomotor Paralysis; ntral Medial Midbrain Syndrome)                                                                                   1 General: Lesion of t [...]

        Myopia-ophthalmoplegia syndrome                                                                                                      

        Myopia-Ophthalmoplegia Syndrome                                                                                                       General: Sex-linked; characteristics seen in males; carried by females. Ocular: Ptosis; myopia; complete [...]

        Erythema nodosum (dermatitis contusiformis)                                                                                   

        Erythema Nodosum (Dermatitis Contusiformis)                                                                                    General: Young females; hypersensitive reaction secondary to ral, bacterial, and fungal infections; duration 2 t [...]

        Fuchs-salzmann- terrien syndrome                                                                                                       4

        Fuchs-Salzmann- Terrien Syndrome                                                                                                       4 General: Features similar to those of Fuchs-Lyell syndrome; both are based on drug allergies (antibiotics [...]

        Melkersson-rosenthal syndrome (melkersson idiopathic fibroedema; miescher cheilitis granulomatosis)                                                                                                                                         7

        Melkersson-Rosenthal Syndrome (Melkersson Idiopathic Fibroedema; Miescher Cheilitis Granulomatosis)                                                                                                                                         7 Ge [...]

        Marchesani syndrome (weill-marchesani syndrome; inverted marfan syndrome; brachymorphy with spherophakia; dystrophia mesodermalis congenita hyperplastica)                                          

        Marchesani Syndrome (Weill-Marchesani Syndrome; Inrted Marfan Syndrome; Brachymorphy with Spherophakia; Dystrophia Mesodermalis Congenita Hyperplastica)                                           General: Pattern of inheritance uncertain; [...]

        Benson disease (asteroid bodies of the vitreous; asteroid hyalitis; snowball opacities of the vitreous; scintillatio albescens)                                                                                                                139

        Benson Disease (Asteroid Bodies of the treous; Asteroid Hyalitis; Snowball Opacities of the treous; Scintillatio Albescens)                   [...]

        Pertussis (whooping cough)                                                                                                                   

        Pertussis (Whooping Cough)                                                                                                                    General: Causati agent Haemophilus pertussis (Bordetella pertussis); not all patients who delop [...]

        Hypertrophic neuropathy                                                                                                                        

        Hypertrophic Neuropathy                                                                                                                         General: Autosomal recessive. Ocular: Cataract. Clinical: Eleted spinal fluid protein; sev [...]

        Sparganosis                                                                                                                                              

        Sparganosis                                                                                                                                               General: Infestations in humans by the plerocercoid lare of the cestodes Spirometra m [...]

        Lermoyez syndrome                                                                                                                                 

        Lermoyez Syndrome                                                                                                                                  General: Form of Ménière disease; hower, hearing acuity impros during the climax of the [...]

        Silent sinus syndrome                                                                                                                            

        Silent Sinus Syndrome                                                                                                                             General: Spontaneous enophthalmos and hypoglobus associated with a small, ipsilateral maxillary [...]

        Cooley anemia (thalassemia; thalassemia major; thalassemia minor)                                             294

        Cooley Anemia (Thalassemia; Thalassemia Major; Thalassemia Minor)                               [...]

        Ultraviolet radiation                                                                                                                               1

        Ultraviolet Radiation                                                                                                                               1 General: Eye and skin are the only organs of the body particularly sensiti to the nonioniz [...]

        Gastrocutaneous syndrome                                                                                                                     

        Gastrocutaneous Syndrome                                                                                                                      General: Combination of symptoms including peptic ulcer, hiatal hernia, multiple lentigines, cafe-a [...]

        Foville syndrome (foville peduncular syndrome)                                                                                 4

        Folle Syndrome (Folle Peduncular Syndrome)                                                                                 4 General: Pontine area tumor, hemorrhage, tuberculoma, multiple sclerosis, or unilateral obstruction of paramedian [...]

        Methemoglobinemia                                                                                                                                  

        Methemoglobinemia                                                                                                                                   General: Deficiency of enzyme; inherited or acquired, with acquired most common; caused by co [...]

        Pseudo-foster kennedy syndrome                                                                                                       

        Pseudo-Foster Kennedy Syndrome                                                                                                        General: Mimic disease of Foster Kennedy syndrome consisting of ischemic optic neuropathy and glioma. Oc [...]

        Bassen-kornzweig syndrome (abetalipoproteinemia; acanthocytosis; familial hypolipoproteinemia)                                                                                                                                126

        Bassen-Kornzweig Syndrome (Abetalipoproteinemia; Acanthocytosis; Familial Hypolipoproteinemia)                       &nb [...]

        Juvenile rheumatoid arthritis (jra; still disease)                                                                                6

        Junile Rheumatoid Arthritis (JRA; Still Disease)                                                                                6 General: Onset before age 16 years; greater occurrence of systemic manifestations, monarticular and oligoartic [...]

        Oculocerebral syndrome with hypopigmentation (amish oculocerebral syndrome; cross syndrome)                                                                                                                                       

        Oculocerebral Syndrome with Hypopigmentation (Amish Oculocerebral Syndrome; Cross Syndrome)                                                                                                                                        General: Aut [...]

        Gruner-bertolotti syndrome                                                                                                                   

        Gruner-Bertolotti Syndrome                                                                                                                    General: rious causes, including pineal tumor, supranuclear lesions, thrombosis of anterior choro [...]

        Microspherophakia with hernia                                                                                                             

        Microspherophakia with Hernia                                                                                                              General: Autosomal dominant. Ocular: Microspherophakia; glaucoma. Clinical: Inguinal hernia. J [...]

        Robinow-silverman-smith syndrome (achondroplastic dwarfism; mesomelic dwarfism; robinow dwarfism)                                                                                                                                1

        Robinow-Silrman-Smith Syndrome (Achondroplastic Dwarfism; Mesomelic Dwarfism; Robinow Dwarfism)                                                                                                                                1 General: Auto [...]

        Fröhlich syndrome (dystrophia adiposogenitalis)                                                                                 4

        Fröhlich Syndrome (Dystrophia Adiposogenitalis)                                                                                 4 General: Caused by chromophobe adenoma of pituitary, Rathke pouch tumors; craniopharyngiomas; suprasellar tumors [...]

        Goldenhar syndrome (oculo-auriculo-vertebral dysplasia; goldenhar-gorlin syndrome)           

        Goldenhar Syndrome (Oculo-Auriculo-Vertebral Dysplasia; Goldenhar-Gorlin Syndrome)            General: Most cases ha been sporadic, but cases of autosomal dominant and recessi inheritance ha been reported; male preponderance (60%); pr [...]

        Wilson disease (hepatolenticular degeneration)                                                                                 

        Wilson Disease (Hepatolenticular Degeneration)                                                                                  General: Lesion in the putamen and lenticular nucleus; familial; occurs in first decade of life; reduced lir fu [...]

        Narp syndrome                                                                                                                                      

        NARP Syndrome                                                                                                                                       General: Neurogenic weakness (N), ataxia (A), and retinitis pigmentosa (RP) syndrome. Ocul [...]

        Z

        Z Zellweger Syndrome (Cerebrohepatorenal Syndrome of Zellweger)                                                  General: Rare; congenital; lethal disease; prelent in females; demyelination of cerebral white matter, spinal cord [...]

        Periocular metastatic tumors (ocular metastatic tumors)                                                                 

        Periocular Metastatic Tumors (Ocular Metastatic Tumors)                                                                  General: Neoplasms that delop from malignant cells and are carried from a primary site of malignancy. Ocular: Reti [...]

        Short syndrome                                                                                                                                       1

        Short Syndrome                                                                                                                                       1 General: Autosomal recessi; short stature; hyperextensibility; hernia; ocular depression; [...]

        Symonds syndrome (otitic hydrocephalus syndrome; serous meningitis syndrome; benign intracranial hypertension; pseudotumor cerebri)                                                                              1

        Symonds Syndrome (Otitic Hydrocephalus Syndrome; Serous Meningitis Syndrome; Benign Intracranial Hypertension; Pseudotumor Cerebri)                                                                              1 General: Children and adolesc [...]

        Windshield wiper syndrome                                                                                                                  1

        Windshield Wiper Syndrome                                                                                                                  1 General: Following cataract extraction with a posterior chamber J loop intraocular lens; intraocular [...]

        Cerebral palsy                                                                                                                                            224

        Cerebral Palsy                                       &n [...]

        Wernicke syndrome i (superior hemorrhagic polioencephalopathic syndrome; hemorrhagic polioencephalitis superior syndrome; encephalitis hemorrhagica superioris; avitaminosis b; thiamine deficiency; beriberi; gayet-wernicke syndrome; wernicke-korsakoff syndrome)      1

        Wernicke Syndrome I (Superior Hemorrhagic Polioencephalopathic Syndrome; Hemorrhagic Polioencephalitis Superior Syndrome; Encephalitis Hemorrhagica Superioris; Ataminosis B; Thiamine Deficiency; Beriberi; Gayet-Wernicke Syndrome; Wernicke-Korsa [...]

        Ewing sarcoma (ewing syndrome)                                                                                                        

        Ewing Sarcoma (Ewing Syndrome)                                                                                                         General: Highly metastatic round cell tumor of bone; most commonly invols long or trunk bones; metastasi [...]

        Pillay syndrome (ophthalmomandibulomelic dysplasia)                                                                     

        Pillay Syndrome (Ophthalmomandibulomelic Dysplasia)                                                                      General: Autosomal dominant; both sexes affected. Ocular: Corneal opacities. Clinical: Temporomandibular fusion; ob [...]

        Kniest dysplasia (metatropic dwarfism type ii)                                                                                  

        Kniest Dysplasia (Metatropic Dwarfism Type II)                                                                                   General: Autosomal dominant disease; Swiss cheese pattern on cartilage biopsy specimen; due to either alteration [...]

        Donohue syndrome (leprechaunism)                                                                                                     380

        Donohue Syndrome (Leprechaunism)                                    &n [...]

        Peutz-touraine syndrome (peutz-jeghers syndrome)                                                                         

        Peutz-Touraine Syndrome (Peutz-Jeghers Syndrome)                                                                          General: Recognized in infants; autosomal dominant; gastrointestinal polyps; jejunal polyps are consistent feature; the [...]

        Basedow syndrome (graves disease; hyperthyroidism; thyrotoxicosis; exophthalmic goiter; parry disease)                                                                                                                                            125

        Basedow Syndrome (Gras Disease; Hyperthyroidism; Thyrotoxicosis; Exophthalmic Goiter; Parry Disease)                      & [...]

        Ring d chromosome                                                                                                                              

        Ring D Chromosome                                                                                                                               General: riant of the chromosome 13 deletion syndrome; ring chromosomes. Ocular: Hyperteloris [...]

        Optic atrophy-spastic paraplegia syndrome                                                                                        

        Optic Atrophy-Spastic Paraplegia Syndrome                                                                                         General: Degenerati disorder of CNS associated with optic atrophy; sex-linked. Ocular: Optic atrophy. Cl [...]

        Vesell syndrome (deafness-strabismus symphalangia syndrome)                                                   

        sell Syndrome (Deafness-Strabismus Symphalangia Syndrome)                                                    General: Etiology unknown; possibly autosomal dominant inheritance. Ocular: Strabismus. Clinical: Symphalangism; hearing los [...]

        Lenoble-aubineau syndrome (nystagmus-myoclonia syndrome)                                                      

        Lenoble-Aubineau Syndrome (Nystagmus-Myoclonia Syndrome)                                                       General: Familial; pathogenesis not known; prelent in males; manifest during first years of life; X-linked dominant inheritance [...]

        Nelson syndrome                                                                                                                                      

        Nelson Syndrome                                                                                                                                       General: Caused by elevated, incompletely suppressible, or nonsuppressible lels of circul [...]

        Pituitary necrosis syndrome (postpartum hypopituitarism syndrome; sheehan syndrome; simmonds-sheehan syndrome)                                                                                                                9

        Pituitary Necrosis Syndrome (Postpartum Hypopituitarism Syndrome; Sheehan Syndrome; Simmonds-Sheehan Syndrome)                                                                                                                9 General: Etiolog [...]

        Ascariasis

        Ascariasis                                                                                                                                                          General: Roundworm infection caused by Ascaris lumbricoides. Ocular: Conjun [...]

        Pterygium of conjunctiva and cornea                                                                                                 

        Pterygium of Conjuncti and Cornea                                                                                                  General: Autosomal dominant; more frequent in people who work outdoors; occurs late in life. Ocular: Wing [...]

        Brown syndrome (superior oblique tendon sheath syndrome)                                                        175

        Brown Syndrome (Superior Oblique Tendon Sheath Syndrome)                               & [...]

        Congential varicella syndrome                                                                                                                288

        Congential ricella Syndrome                                      [...]

        Fragile x syndrome                                                                                                                                   4

        Fragile X Syndrome                                                                                                                                   4 General: X-linked recessi; primarily affects males. Ocular: Strabismus; nystagmus; high [...]

        Diabetes mellitus (willis disease)                                                                                                              364

        Diabetes Mellitus (Willis Disease)                                     [...]

        Tar syndrome (thrombocytopenia absent radius syndrome)                                                       1

        TAR Syndrome (Thrombocytopenia Absent Radius Syndrome)                                                       1 General: Bilateral absence of the radius and hypomegakaryocytic thrombocytopenia. Ocular: May ha cataracts, glaucoma, megaloco [...]

        Hydranencephaly                                                                                                                                      

        Hydranencephaly                                                                                                                                       General: Rare; delopment disorder in which cerebral hemispheres are replaced by a cystic [...]

        Hemifacial hyperplasia with strabismus (bencze syndrome)                                                               5

        Hemifacial Hyperplasia with Strabismus (Bencze Syndrome)                                                               5 General: Autosomal dominant; abnormal growth of facial skeleton and soft tissue and scera; left side prominent. Ocu [...]

        Posthypoxic encephalopathy syndrome (posthypoxic syndrome; parietooccipital syndrome)     

        Posthypoxic Encephalopathy Syndrome (Posthypoxic Syndrome; Parietooccipital Syndrome)      General: Hypoxia secondary to carbon monoxide poisoning, high altitude, complication during anesthesia, hypoglycemia, or cardiac failure, causing wi [...]

        Garcin syndrome (half-base syndrome; schmincke tumor-unilateral cranial paralysis)             

        Garcin Syndrome (Half-Base Syndrome; Schmincke Tumor-Unilateral Cranial Paralysis)              General: Causes include tumors of nasopharynx, rapidly progressing growth of a sarcoma of base of skull, meningitis, and cranial polyneuritis; c [...]

        Gerstmann syndrome (dominant hemisphere syndrome; left angular gyrus syndrome)           

        Gerstmann Syndrome (Dominant Hemisphere Syndrome; Left Angular Gyrus Syndrome)            General: Most frequently caused by tumors of dominant hemisphere in which the angular gyrus is invold; may follow an ischemic posterior cerebellar [...]

        Olivopontocerebellar atrophy iii (opca iii; opca with retinal degeneration)                            

        Olivopontocerebellar Atrophy III (OPCA III; OPCA with Retinal Degeneration)                             General: Autosomal dominant; neurologic lesion; dominant with riable penetration. Ocular: Retinopathy riable: peripheral, macular [...]

        Schomberg disease                                                                                                                                  1

        Schomberg Disease                                                                                                                                  1 General: Blood dyscrasias; associated with thrombocytopenia. Ocular: Subconjunctil hemorr [...]

        Leptomeningeal adhesive thickening (chronic adhesive arachnoiditis)                                          

        Leptomeningeal Adhesi Thickening (Chronic Adhesi Arachnoiditis)                                           General: Follows a chronic leptomeningeal infection, trauma, or subarachnoid hemorrhage; insidious onset. Ocular: Diplopia. [...]

        Cri-du-chat syndrome (cat-cry (5p-) syndrome; crying cat syndrome; bi deletion syndrome; lejeune syndrome)                                                                                                                                    322

        Cri-du-Chat Syndrome (Cat-Cry (5p-) Syndrome; Crying Cat Syndrome; BI Deletion Syndrome; Lejeune Syndrome)                      & [...]

        Hyperparathyroidism                                                                                                                               

        Hyperparathyroidism                                                                                                                                General: Increased secretion of parathyroid hormone. Glasslike crystals of conjuncti; band k [...]

        Weyers syndrome (2) (weyers iv syndrome; lridodental dysplasia; dentoirideal dysplasia; dysgenesis iridodentalis; dysgenesis mesodermalis corneae et irides with digodontia)                  1

        Weyers Syndrome (2) (Weyers ISyndrome; lridodental Dysplasia; Dentoirideal Dysplasia; Dysgenesis Iridodentalis; Dysgenesis Mesodermalis Corneae et Irides with Digodontia)                  1 General: Present from birth; hereditary; etiolo [...]

        Chromosome 18 partial deletion (short-arm) syndrome (monosomy 18 partial [short-arm] syndrome)                                                                                                                                                  247

        Chromosome 18 Partial Deletion (Short-Arm) Syndrome (Monosomy 18 Partial [Short-Arm] Syndrome)                       &nb [...]

        Mosse syndrome (polycythemia-hepatic cirrhosis syndrome)                                                           

        Mosse Syndrome (Polycythemia-Hepatic Cirrhosis Syndrome)                                                            General: Unknown etiology. Ocular: Scleral icterus; marked retinal nous tortuosity and dilation; retinal artery occlusio [...]

        Pregnancy                                                                                                                                                

        Pregnancy                                                                                                                                                 General: Pregnancy results in hormonal changes that produce ocular effects; symptoms re [...]

        Posterior iris chafing syndrome                                                                                                          

        Posterior Iris Chafing Syndrome                                                                                                           General: Complication following intraocular lens imtation attributed to sulcus-fixed posterior chamber [...]

        Micro syndrome                                                                                                                                       

        Micro Syndrome                                                                                                                                        General: Autosomal recessi microcephaly and microcornea; Muslim Pakistani inheritance; pr [...]

        Multiple mucosal neuromata with endocrine tumors syndrome (multiple mucosal neuromas, pheochromocytoma, and medullary thyroid carcinoma syndrome)                                                

        Multiple Mucosal Neuromata with Endocrine Tumors Syndrome (Multiple Mucosal Neuromas, Pheochromocytoma, and Medullary Thyroid Carcinoma Syndrome)                                                 General: Pheochromocytoma can be inherited and [...]

        Pinta (nonvenereal treponematosis)                                                                                                       9

        Pinta (Nonnereal Treponematosis)                                                                                                       9 General: Caused by spirochete Treponema carateum; infectious; contagious; found in Mexico, Central Amer [...]

        Cranio-oro-digital syndrome (otopalatodigital syndrome; opd ii syndrome; facio-palato- osseous syndrome; fpo)                                                                                                                          315

        Cranio-Oro-Digital Syndrome (Otopalatodigital Syndrome; OPD II Syndrome; Facio-Palato- Osseous Syndrome; FPO)                       [...]

        Homocystinuria syndrome                                                                                                                        5

        Homocystinuria Syndrome                                                                                                                        5 General: Rare disorder of amino acid meolism; autosomal recessi inheritance; approximately o [...]

        Aspergillosis

        Aspergillosis General: Systemic infection common in poultry farmers, feeders or breeders of pigeons, and persons who work with grains; should be considered in immunocompromised patients. Ocular: Corneal ulcer; blepharitis; keratitis; scl [...]

        Bielschowsky-lutz-cogan syndrome (internuclear ophthalmoplegia)                                               144

        Bielschowsky-Lutz-Cogan Syndrome (Internuclear Ophthalmoplegia)                               [...]

        Fuchs (1) syndrome (heterochromic cyclitis syndrome)                                                                     

        Fuchs (1) Syndrome (Heterochromic Cyclitis Syndrome)                                                                      General: Etiology unknown; mild infecti cyclitis is the most likely cause; etiology remains unclear, although it is l [...]

        Xyy syndrome                                                                                                                                        1

        XYY Syndrome                                                                                                                                        1 General: Y chromosome polysomy syndrome. Ocular: Colobomata. Clinical: Mild mental reta [...]

        V exotropia syndrome                                                                                                                            1

        Exotropia Syndrome                                                                                                                            1 Exotropia greater looking up by 15 diopters than looking down; underaction of superior oblique o [...]

        Hallermann-streiff syndrome (dyscephalic-mandibulo-oculo-facial syndrome; oculo-mandibulo-dyscephaly; ullrich-fremery-dohna syndrome; francois dyscephalic syndrome; mandibulo-oculo- facial dyscephaly syndrome; francois-hallermann-streiff syndrome; hallermann-streiff-francois syndrome; audry i syndrome; dohna syndrome; francois syndrome (1); dyscephaly- teeth abnormality-dwarfism; dyscephalia oculomandibularis-hypotrichosis; mandibulo-ocular dyscephalia hypotrichosis; fremery-dohna syndrome; oculo-mandibulo-facial dyscephaly)      

        Hallermann-Streiff Syndrome (Dyscephalic-Mandibulo-Oculo-Facial Syndrome; Oculo-Mandibulo-Dyscephaly; Ullrich-Fremery-Dohna Syndrome; Francois Dyscephalic Syndrome; Mandibulo-Oculo- Facial Dyscephaly Syndrome; Francois-Hallermann-Streiff Syndrome; [...]

        Hoof and mouth disease                                                                                                                           5

        Hoof and Mouth Disease                                                                                                                           5 General: Viral etiology. Ocular: Conjunctil painful red blisters. Clinical: Mucous membr [...]

        Greig syndrome (ocular hypertelorism syndrome; hypertelorism; primary embryonic hypertelorism; hypertelorism ocularis)                                                                                                                           

        Greig Syndrome (Ocular Hypertelorism Syndrome; Hypertelorism; Primary Embryonic Hypertelorism; Hypertelorism Ocularis)                                                                                                                            [...]

        Lanzieri syndrome                                                                                                                                   

        Lanzieri Syndrome                                                                                                                                    General: Delopmental anomaly that belongs to group of craniofacial malformations; present [...]

        Jacod syndrome (negri-jacod syndrome; petrosphenoidal space syndrome)                                  

        Jacod Syndrome (Negri-Jacod Syndrome; Petrosphenoidal Space Syndrome)                                   General: Lesion involving cranial nerves II to ; most frequently a malignant nasopharyngeal tumor originating in lateropharyngeal area [...]

        Fibrinoid syndrome                                                                                                                                  

        Fibrinoid Syndrome                                                                                                                                   General: From 2 to 14 days posttrectomy, white-gray criss-cross layers of fibrin appear on [...]

        Oculopalatoskeletal syndrome                                                                                                                 

        Oculopalatoskeletal Syndrome                                                                                                                  General: Autosomal recessi; delopmental defect of eye and occipital bone; skeletal abnormalitie [...]

        Favre-racouchot syndrome (nodular elastoidosis)                                                                              

        Fae-Racouchot Syndrome (Nodular Elastoidosis)                                                                               General: Reaction to sun; permanent, slowly progressing condition; occurs in people chronically exposed to sun; usu [...]

        Von monakow syndrome (monakow anterior choroidal artery syndrome)                                 1

        Von Monakow Syndrome (Monakow Anterior Choroidal Artery Syndrome)                                 1 General: Rupture or thrombosis of anterior choroidal artery; aneurysm; tumor. Ocular: sual field defect; hemianopia. Clinical: Hemiple [...]

        Hereditary microcornea, glaucoma, and absent frontal sinuses                                                        5

        Hereditary Microcornea, Glaucoma, and Absent Frontal Sinuses                                                        5 General: Autosomal dominant. Ocular: Microcornea; glaucoma; epicanthal folds; optic cupping. Clinical: Thickened palma [...]

        Midas syndrome (microphthalmia, dermal aplasia and sclerocornea)                                          

        MIDAS Syndrome (Microphthalmia, Dermal Aplasia and Sclerocornea)                                           General: X-linked phenotype; male-lethal trait Ocular: Bilateral microphthalmia; sclerocornea; blepharophimosis Clinical: derma [...]

        Von hippel-lindau syndrome (retinocerebral angiomatosis; angiomatosis retinae; cerebelloretinal hemangioblastomatosis; lindau syndrome; retinal capillary hamartoma)                                    1

        n Hippel-Lindau Syndrome (Retinocerebral Angiomatosis; Angiomatosis Retinae; Cerebelloretinal Hemangioblastomatosis; Lindau Syndrome; Retinal Capillary Hamartoma)                                    1 General: Dominant inheritance; angiomat [...]

        Orf syndrome (ecthyma infectiosum)                                                                                                 

        ORF Syndrome (Ecthyma Infectiosum)                                                                                                  General: Infectious disease; transmitted between animals; worldwide distribution; human infection from sheep. [...]

        Blue rubber bleb nevus syndrome (bean syndrome)                                                                          160

        Blue Rubber Bleb Nes Syndrome (Bean Syndrome)                                   [...]

        Roberts pseudothalidomide syndrome                                                                                                  1

        Roberts Pseudothalidomide Syndrome                                                                                                  1 General: Rare autosomal recessi disorder characterized by prenatal and postnatal growth retardation, limb [...]

        Marfan syndrome (dolichostenomelia; arachnodactyly; hyperchondroplasia; dystrophia mesodermalis congenita)                                                                                                                         

        Marfan Syndrome (Dolichostenomelia; Arachnodactyly; Hyperchondroplasia; Dystrophia Mesodermalis Congenita)                                                                                                                          General: Hy [...]

        Psoriasis (psoriasis vulgaris)                                                                                                                  

        Psoriasis (Psoriasis lgaris)                                                                                                                   General: Chronic skin disease of unknown etiology; both sexes affected; onset at any age; diseas [...]

        Hypervitaminosis a                                                                                                                                   

        Hypertaminosis A                                                                                                                                    General: Excessive tamin A ingestion. Ocular: Papilledema; congenital cataract; congeni [...]

        Angioedema

        Angioedema (Angioneurotic Edema; Giant Edema; Giant Urticaria; His; Nettle Rash;  Quincke Disease)                                                                                                                                                     [...]

        Polymyalgia rheumatica                                                                                                                        

        Polymyalgia Rheumatica                                                                                                                         General: Affects older patients; usually Caucasian women; relationship between polymyalgia and tem [...]

        Cerebrofacial-reno-arthro-syndactylia syndrome                                                                               225

        Cerebrofacial-Reno-Arthro-Syndactylia Syndrome                                   [...]

        Camfak syndrome (cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome)        189

        CAMFAK Syndrome (Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome)        189 General: Autosomal recessive; there is edence supporting that it is a neurologic dis [...]

        Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging                                                                                                                                172

        Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging                     [...]

        Allergic to everything syndrome

        Allergic to Everything Syndrome                                                                                                                   General: 'Enronmentally ill' or allergic to unusual or common substances in the enronment; [...]

        Retinoschisis, autosomal dominant                                                                                                      

        Retinoschisis, Autosomal Dominant                                                                                                       General: Autosomal dominant; degenerati abnormal splitting of retinal sensory layers. Ocular: Loss o [...]

        Caisson syndrome (bends syndrome; diver's palsy; compressed-air illness)                                   186

        Caisson Syndrome (Bends Syndrome; Dir's Palsy; Compressed-Air Illness)                            &nb [...]

        Spanlang-tappeiner syndrome (keratosis palmoplantaris and corneal dystrophy syndrome)   

        Spanlang-Tappeiner Syndrome (Keratosis Palmotaris and Corneal Dystrophy Syndrome)    General: Autosomal dominant; etiology unknown; occurs in both sexes; onset age 5 to 20 years; linear palmar and diffuse tar keratosis with dystrophy of the [...]

        Cataract, microphthalmia and nystagmus                                                                                             212

        Cataract, Microphthalmia and Nystagmus                                   &n [...]

        Anorexia nervosa (apepsia hystericci)

        Anorexia Nervosa (Apepsia Hystericci)                                                                                                         General: Compulsi neurosis; refusal to eat; occurs in adolescent to young adult females; symptoma [...]

        Congenital vertical retraction syndrome                                                                                               289

        Congenital rtical Retraction Syndrome                                   & [...]

        Sebaceous gland carcinoma                                                                                                                  1

        Sebaceous Gland Carcinoma                                                                                                                  1 General: Ocular adnexa contains rious sebaceous glands from which carcinomas may arise; predilectio [...]

        Avitaminosis b2 (ariboflavinosis; pellagra)

        Avitaminosis B2 (Ariboflavinosis; Pellagra) General: Niacin deficiency. Ocular: Conjunctivitis; corneal scularization; keratitis; pupillary dilation; optic atrophy; optic neuritis; cataract; blepharitis; central scotoma; marked photopho [...]

        Sipple syndrome (multiple endocrine neoplasia 2 or 2a; multiple endocrine adenomatosis 2 or 2a; familial chromaffinomatosis; multiple neuroma; pheochromocytoma-thyroid medullary carcinoma; pct; men2 or men2a; mea2 or mea2a)                                                                                     

        Sipple Syndrome (Multiple Endocrine Neoplasia 2 or 2A; Multiple Endocrine Adenomatosis 2 or 2A; Familial Chromaffinomatosis; Multiple Neuroma; Pheochromocytoma-Thyroid Medullary Carcinoma; PCT; MEN2 or MEN2A; MEA2 or MEA2A)                        [...]

        Conradi syndrome (multiple epiphyseal dysplasia congenita; dysplasia epiphysealis congenita; chondrodystrophia foetalis hypoplastica; calcinosis universalis; congenital calcifying chondrodystrophy; stippled epiphyses syndrome; conradi-hünermann syndrome; chondrodysplasia punctata)                                                                                                                                                     291

        Conradi Syndrome (Multiple Epiphyseal Dysplasia Congenita; Dysplasia Epiphysealis Congenita; Chondrodystrophia Foetalis Hypoplastica; Calcinosis Unirsalis; Congenital Calcifying Chondrodystrophy; Stippled Epiphyses Syndrome; Conradi [...]

        Ormond syndrome (retroperitoneal fibrosis)                                                                                      

        Ormond Syndrome (Retroperitoneal Fibrosis)                                                                                       General: Periureteral fibrosis that constricts ureter; most frequent in males; arage age at onset is 46 years [...]

        Foot-in-the-wound syndrome                                                                                                                 

        Foot-in-the-Wound Syndrome                                                                                                                  General: Occurs when the anterior chamber intraocular lens haptic is within the wound. Ocular: Ha [...]

        Terrien disease (terrien marginal degeneration; gutter dystrophy; peripheral furrow keratitis; senile marginal atrophy)                                                                                                                        1

        Terrien Disease (Terrien Marginal Degeneration; Gutter Dystrophy; Peripheral Furrow Keratitis; Senile Marginal Atrophy)                                                                                                                        1 [...]

        Claude syndrome (inferior nucleus ruber syndrome; rubro-spinal-cerebellar-peduncle syndrome)                                                                                                                                                  253

        Claude Syndrome (Inferior Nucleus Ruber Syndrome; Rubro-Spinal-Cerebellar-Peduncle Syndrome)                        &nb [...]

        Dandy-walker syndrome (atresia of the foramen of magendie)                                                        344

        Dandy-Walker Syndrome (Atresia of the Foramen of Magendie)                               & [...]

        Second eye syndrome                                                                                                                            

        Second Eye Syndrome                                                                                                                             General: Associatedwith the second cataract surgery within one month of the first. Ocular: Inc [...]

        Ophthalmodynia hypertonica copulationis syndrome                                                                        

        Ophthalmodynia Hypertonica Copulationis Syndrome                                                                         General: Procation of a diagnosed and otherwise controlled angle-closure glaucoma by prolonged sexual intercourse in t [...]

        Goldscheider syndrome (weber-cockayne syndrome; epidermolysis bullosa; dominant epidermolysis bullosa dystrophiea albopapuloidea)                                                                                                     

        Goldscheider Syndrome (Weber-Cockayne Syndrome; Epidermolysis Bullosa; Dominant Epidermolysis Bullosa Dystrophiea Albopapuloidea)                                                                                                      General: [...]

        Sorsby ii syndrome (sorsby macular dystrophy)                                                                               1

        Sorsby II Syndrome (Sorsby Macular Dystrophy)                                                                               1 General: Both sexes affected; onset in third and fourth decades of life. Ocular: Retinal hemorrhages; retinal exud [...]

        Lead poisoning                                                                                                                                          

        Lead Poisoning                                                                                                                                           General: Now rare and mostly of industrial origin; cumulati poisoning; excreted slowly [...]

        Paragonimiasis (distomiasis; endemic hemoptysis)                                                                              

        Paragonimiasis (Distomiasis; Endemic Hemoptysis)                                                                               General: Chronic lung infection; causati agent is Paragonimus trematode; transmitted by eating undercooked crabs [...]

        Vitreoretinal skeletal syndrome                                                                                                             1

        Vitreoretinal Skeletal Syndrome                                                                                                             1 General: Associated with rious systemic skeletal abnormalities; autosomal dominant. Ocular: Opt [...]

        Van der hoeve syndrome (osteogenesis imperfecta; osteopsathyrosis; ekman syndrome; lobstein syndrome; spurway syndrome; vrolik syndrome; eddowes syndrome; brittle bone disease)   

        Van Der Hoeve Syndrome (Osteogenesis Imperfecta; Osteopsathyrosis; Ekman Syndrome; Lobstein Syndrome; Spurway Syndrome; olik Syndrome; Eddowes Syndrome; Brittle Bone Disease)    General: Autosomal dominant. Ocular: Glaucoma; blue scler [...]

        Parkinson syndrome (paralysis agitans; shaking palsy)                                                                     

        Parkinson Syndrome (Paralysis Agitans; Shaking Palsy)                                                                      General: Late stages of epidemic encephalitis; present with arteriosclerosis and with manganese and carbon monoxide po [...]

        Histiocytosis x (hand-schuller-christian syndrome; lipoid granuloma; xanthomatous granuloma syndrome; schuller-christian-hand syndrome; letterer-siwe syndrome; acute histiocytosis x; eosinophilic granuloma; reticuloendotheliosis syndrome)                                                                                        5

        Histiocytosis X (Hand-Schuller-Christian Syndrome; Lipoid Granuloma; Xanthomatous Granuloma Syndrome; Schuller-Christian-Hand Syndrome; Letterer-Siwe Syndrome; Acute Histiocytosis X; Eosinophilic Granuloma; Reticuloendotheliosis Syndrome)          [...]

        Basal cell carcinoma                                                                                                                                123

        Basal Cell Carcinoma                                      &n [...]

        Hypothalamique carrefour syndrome (carrefour hypothalamique syndrome)                              

        Hypothalamique Carrefour Syndrome (Carrefour Hypothalamique Syndrome)                               General: Onset is sudden with hemiplegia; etiology unknown. Ocular: sual loss. Clinical: Hypertension; hemianesthesia; apraxia; aste [...]

        Thelaziasis                                                                                                                                                 1

        Thelaziasis                                                                                                                                                 1 General: Ocular infection caused mainly by the nematode Thelazia callipardon; natura [...]

        Bazzana syndrome (angiospastic ophthalmo-auricular syndrome)                                                  128

        Bazzana Syndrome (Angiospastic Ophthalmo-Auricular Syndrome)                              &nb [...]

        Legg-perthes disease (legg-calve-perthes disease; legg-calve-waldenstrom syndrome; coxa plana; legg disease; legg-calve disease)                                                                                                          

        Legg-Perthes Disease (Legg-Cal-Perthes Disease; Legg-Cal-Waldenstrom Syndrome; Coxa a; Legg Disease; Legg-Cal Disease)                                                                                                           General: [...]

        Progressive systemic sclerosis (scleroderma; systemic scleroderma)                                               

        Progressi Systemic Sclerosis (Scleroderma; Systemic Scleroderma)                                                General: Chronic connecti tissue disease of unknown etiology; chronic and usually progressi disorder; typical onset is in [...]

        Negative acceleration syndrome (hydrostatic pressure syndrome; supersonic bailout syndrome)

        Negative Acceleration Syndrome (Hydrostatic Pressure Syndrome; Supersonic Bailout Syndrome) General: At rapid deceleration, blood volume is shifted to the brain and face of the individual due to rapid eletion of intrascular blood pressu [...]

        Beard disease (neurasthenia; nervous exhaustion)                                                                              131

        Beard Disease (Neurasthenia; Nerus Exhaustion)                                 &nbs [...]

        Olivopontocerebellar atrophy iii (opca iii; opca with retinal degeneration)                            

        Olivopontocerebellar Atrophy III (OPCA III; OPCA with Retinal Degeneration)                             General: Autosomal dominant; neurologic lesion; dominant with riable penetration. Ocular: Retinopathy riable: peripheral, macular [...]

        Hie syndrome (hyperimmunoglobulinemia e syndrome)                                                                   5

        HIE Syndrome (Hyperimmunoglobulinemia E Syndrome)                                                                   5 General: Mononuclear cells inhibit normal neutrophil and monocyte chemotaxis; caused by Staphylococcus aureus and Candida tr [...]

        Forsius-eriksson syndrome (aland disease)                                                                                         

        Forsius-Eriksson Syndrome (Aland Disease)                                                                                          General: Associated with the natis of the Aland Islands; sex-linked inheritance; consanguinity rsus mutant [...]

        Macular edema, cystoid                                                                                                                          

        Macular Edema, Cystoid                                                                                                                           General: Autosomal dominant; edema due to leaking perimacular capillaries. Ocular: Retinal cap [...]

        Dimmer syndrome (keratitis nummularis)                                                                                            370

        Dimmer Syndrome (Keratitis Nummularis)                                   &n [...]

        Capgras syndrome (illusion of double syndrome; l’illusion des sosies; phantom double  syndrome; nonrecognition-misidentification syndrome)                                                                                         193

        Capgras Syndrome (Illusion of Double Syndrome; L’illusion des Sosies; Phantom Double  Syndrome; Nonrecognition-Misidentification Syndrome)              &nb [...]

        Multiple mucosal neuromata with endocrine tumors syndrome (multiple mucosal neuromas, pheochromocytoma, and medullary thyroid carcinoma syndrome)                                                

        Multiple Mucosal Neuromata with Endocrine Tumors Syndrome (Multiple Mucosal Neuromas, Pheochromocytoma, and Medullary Thyroid Carcinoma Syndrome)                                                 General: Pheochromocytoma can be inherited and [...]

        Pyostomatitis                                                                                                                                            

        Pyostomatitis                                                                                                                                             General: Reaction of chronic inflamed skin due to secondary infection; body resistance [...]

        Frontometaphyseal dysplasia (fmd)                                                                                                      4

        Frontometaphyseal Dysplasia (FMD)                                                                                                      4 General: Sex-linked; rare; bony dysplasia. Ocular: Strabismus; supraorbital deformity; hyperopia; hyper [...]

        Leiomyoma                                                                                                                                                

        Leiomyoma                                                                                                                                                 General: Rare, benign tumor that arises from smooth muscle; usually well encapsulated. [...]

        Superior vena cava syndrome (vena cava superior syndrome)                                                     1

        Superior Vena Ca Syndrome (Vena Ca Superior Syndrome)                                                     1 General: Compression or obstruction of the superior vena ca by aortic aneurysms, mediastinal neoplasms, thyroid adenoma, or car [...]

        Partial trisomy 16q syndrome                                                                                                                

        Partial Trisomy 16q Syndrome                                                                                                                 General: Partial trisomy 16q with chromosome banding; rare. Ocular: Narrow palpebral fissures; ant [...]

        Bacterial endocarditis

        Bacterial Endocarditis General: Inflammation of the lining on the heart caused by an infective agent. Ocular: Conjunctil petechial hemorrhages; retinal hemorrhages; Roth spots; cotton-wool spots; branch or central retinal arterial occlus [...]

        Optic atrophy, juvenile (optic atrophy, congenital; kjer-type optic atrophy; optic atrophy, kjer-type; oak syndrome [optic atrophy, kjer type])                                                                   

        Optic Atrophy, Junile (Optic Atrophy, Congenital; Kjer-Type Optic Atrophy; Optic Atrophy, Kjer-Type; OAK Syndrome [Optic Atrophy, Kjer Type])                                                                    General: Autosomal dominant; [...]

        Uveal effusion syndrome                                                                                                                      

        Ual Effusion Syndrome                                                                                                                       General: Congenital anomaly of sclera and, in some cases, the vortex in; inability to transport e [...]

        Chromosome 13q partial deletion (long-arm syndrome; 13q syndrome)                                        245

        Chromosome 13q Partial Deletion (Long-Arm Syndrome; 13q Syndrome)                              [...]

        Pendred syndrome (sporadic goiter with deafness)                                                                            

        Pendred Syndrome (Sporadic Goiter with Deafness)                                                                             General: Autosomal recessi; defect in thyroxine biosynthesis. Ocular: Retinal pigmentary degenerati changes; p [...]

        Sjögren-larsson syndrome (oligophrenia ichthyosis spastic diplegia syndrome)                          1

        Sjögren-Larsson Syndrome (Oligophrenia Ichthyosis Spastic Diplegia Syndrome)                          1 General: Rare; autosomal recessi; consanguinity; loss of neurons and gliosis throughout gray matter; autosomal recessily inherited di [...]

        U

        U UGH Syndrome (Uitis-Glaucoma-Hyphema Syndrome)                                                                 General: Caused by a defecti anterior chamber lens; can be caused by toxic substance incorporated into the plasti [...]

        Cestan-chenais syndrome (cestan [1] syndrome)                                                                                 229

        Cestan-Chenais Syndrome (Cestan [1] Syndrome)                                  & [...]

        Hypertrichosis (hirsutism)                                                                                                                       

        Hypertrichosis (Hirsutism)                                                                                                                        General: Excessi hair growth due to endocrinologic or physiologic states. Ocular: Keratitis [...]

        Nocardiosis                                                                                                                                                

        Nocardiosis                                                                                                                                                 General: Aerobic Actinomycetaceae that may cause a chronic suppurati process; aerob [...]

        Ethan syndrome, secondary                                                                                                                   

        Ethan Syndrome, Secondary                                                                                                                    General: Classic nystagmus blockage syndrome, but after strabismus surgery delopment of head turn [...]

        Ophthalmodynia hypertonica copulationis syndrome                                                                        

        Ophthalmodynia Hypertonica Copulationis Syndrome                                                                         General: Procation of a diagnosed and otherwise controlled angle-closure glaucoma by prolonged sexual intercourse in t [...]

        Doyne honeycomb choroiditis (dominant orbruch membrane drusen; hutchinson-tays central guttate choroiditis; holthouse-batten superficial choroiditis; malattia-leventinese syndrome)   384

        Doyne Honeycomb Choroiditis (Dominant Orbruch Membrane Drusen; Hutchinson-Tays Central Guttate Choroiditis; Holthouse-Batten Superficial Choroiditis; Malattia-Lentinese Syndrome)   384 General: Autosomal domin [...]

        Spastic paraplegia, x-linked (sppx)                                                                                                   

        Spastic Paraplegia, X-Linked (SPPX)                                                                                                    General: X-linked; early onset; slow progression and long survival with entual involment of the cerebe [...]

        Rebeitz-kolodny-richardson syndrome                                                                                              

        Rebeitz-Kolodny-Richardson Syndrome                                                                                               General: Etiology unknown; possibly meolic failure at cellular lel; occurs in late middle age; neural achr [...]

        Glander syndrome                                                                                                                                   

        Glander Syndrome                                                                                                                                    General: Serious infection caused by Malleomyces mallei; no naturally acquired infections in [...]

        Flynn-aird syndrome                                                                                                                               4

        Flynn-Aird Syndrome                                                                                                                               4 General: May be basic hereditary enzyme deficiency, probably autosomal dominant; no sex predi [...]

        Parinaud oculoglandular syndrome (parinaud conjunctiva-adenitis syndrome; catscratch oculoglandular syndrome; catscratch disease; bartonella henselae)                                                

        Parinaud Oculoglandular Syndrome (Parinaud Conjuncti-Adenitis Syndrome; Catscratch Oculoglandular Syndrome; Catscratch Disease; Bartonella henselae)                                                 General: Most frequently seen in childre [...]

        Hemimacrosomia syndrome (steiner syndrome; hemigigantism; hemifacial or unilateral hypertrophy)                                                                                                                                             

        Hemimacrosomia Syndrome (Steiner Syndrome; Hemigigantism; Hemifacial or Unilateral Hypertrophy)                                                                                                                                              Ge [...]

        Angiolymphoid hyperplasia with eosinophilia (kimura disease)

        Angiolymphoid Hyperplasia with Eosinophilia (Kimura Disease) General: Benign, slow-growing tumor involng primarily the face and scalp; etiology unknown but inflammatory reaction suspected; occurring primarily in young Oriental males. O [...]

        Dirofilariasis                                                                                                                                               372

        Dirofilariasis                                       &n [...]

        Grönblad-strandberg syndrome (systemic elastodystrophy; pseudoxanthoma elasticum; elastorrhexis; darier-grönblad-strandberg syndrome)                                                                                              

        Grönblad-Strandberg Syndrome (Systemic Elastodystrophy; Pseudoxanthoma Elasticum; Elastorrhexis; Darier-Grönblad-Strandberg Syndrome)                                                                                               General: Aut [...]

        Engelmann syndrome (osteopathia hyperostotica [scleroticans] multiplex infantilis; diaphyseal dysplasia; camurati-engelmann disease; hereditary multiple diaphyseal sclerosis; juvenile paget disease)                                                                                                                                                      

        Engelmann Syndrome (Osteopathia Hyperostotica [Scleroticans] Multiplex Infantilis; Diaphyseal Dysplasia; Camurati-Engelmann Disease; Hereditary Multiple Diaphyseal Sclerosis; Junile et Disease)                                                  [...]

        Bamatter syndrome (osteoplastic geroderma; walt disney dwarfism)

        Bamatter Syndrome (Osteoplastic Geroderma; Walt Disney Dwarfism) General: Hereditary X-linked; rare; onset in early childhood; precocious aging; osteoporosis; autosomal recessi inheritance. Ocular: Glaucoma; microphthalmia; microcornea; [...]

        Roy syndrome                                                                                                                                          1

        Roy Syndrome                                                                                                                                          1 General: Long history of smoking tobacco. Ocular: Cataract, usually unilateral, posterio [...]

        Uyemura syndrome (fundus albipunctatus with hemeralopia and xerosis)                                  

        Uyemura Syndrome (Fundus Albipunctatus with Hemeralopia and Xerosis)                                   General: Rare; resembles retinitis punctata albescens, fundus albipunctatus, and congenital idiopathic night blindness or Oguchi disease; [...]

        I

        I Impetigo                                                                                                                                                      General: Superficial primary pyoderma caused by streptococci and Staphy [...]

        Epiphyseal dysplasia, microcephaly, and nystagmus                                                                           

        Epiphyseal Dysplasia, Microcephaly, and Nystagmus                                                                            General: Autosomal recessi. Ocular: Nystagmus; retinitis pigmentosa. Clinical: Epiphyseal dysplasia; microcep [...]

        Pappataci fever (phlebotomus fever; sandfly fever)                                                                          

        Pappataci Fever (Phlebotomus Fever; Sandfly Fever)                                                                           General: Viral etiology; transmitted by the sandfly Phlebotomus papatasii. Ocular: Pick sign of conjuncti (conj [...]

        Cone-rod dystrophy (crd)                                                                                                                    274

        Cone-Rod Dystrophy (CRD)                                     &nbs [...]

        Nystagmus, hereditary vertical                                                                                                               8

        Nystagmus, Hereditary Vertical                                                                                                               8 General: Autosomal dominant. Ocular: Motor-type rtical and horizontal nystagmus; hyperacti v [...]

        Newcastle disease (fowlpox)                                                                                                                    8

        Newcastle Disease (Fowlpox)                                                                                                                    8 General: Acquired directly by people handling chickens (see Parinaud Oculoglandular Syndrome); se [...]

        Myopia, sex-linked                                                                                                                                  

        Myopia, Sex-Linked                                                                                                                                   General: Sex-linked; linkage to factor II gene; probable location Xq28. Ocular: Myopia; [...]

        Encephalitis, acute                                                                                                                                   

        Encephalitis, Acute                                                                                                                                    General: In approximately 0.1% to 0.2% of patients hang rubeola (measles), an acute ence [...]

        Sprengel syndrome (high scapula congenita)                                                                                     1

        Sprengel Syndrome (High Scapula Congenita)                                                                                     1 General: Etiology unknown; nonprogressi. Ocular: Hypertelorism. Clinical: One scapula short in rtical ax [...]

        Biemond syndrome                                                                                                                                   145

        Biemond Syndrome                                        [...]

        Rosenberg-chutorian syndrome                                                                                                           1

        Rosenberg-Chutorian Syndrome                                                                                                           1 General: Recessi inheritance; inheritance is considered X-linked semidominant. Ocular: Optic atrophy. [...]

        Retrolental fibroplasia (rlf; retinopathy of prematurity)                                                              

        Retrolental Fibroplasia (RLF; Retinopathy of Prematurity)                                                               General: Bilateral disease seen primarily in premature infants with immature retinal ssels; excessi use of oxygen re [...]

        Ormond syndrome (retroperitoneal fibrosis)                                                                                      

        Ormond Syndrome (Retroperitoneal Fibrosis)                                                                                       General: Periureteral fibrosis that constricts ureter; most frequent in males; arage age at onset is 46 years [...]

        Diphtheria                                                                                                                                                   371

        Diphtheria                                         [...]

        Reticular degeneration of pigment epithelium (rdpe)                                                                     

        Reticular Degeneration of Pigment Epithelium (RDPE)                                                                      General: Etiology unknown; associated with age-related macular degeneration. Ocular: Hypopigmentation of retinal pigme [...]

        Kahler disease (myelomatosis; multiple myeloma)                                                                               

        Kahler Disease (Myelomatosis; Multiple Myeloma)                                                                                General: Disseminated malignancy of plasma cells located predominantly in the bone marrow. Ocular: Tumor of orb [...]

        Lyme disease                                                                                                                                             

        Lyme Disease                                                                                                                                              General: Caused by tick bite; symptoms resol after treatment. Ocular: Keratitis may [...]

        Papillon-leage-psaume syndrome (oro-digital-facial syndrome; linguofacial dysplasia of grob; gorlin syndrome; dysplasia linguofacialis; ofd syndrome; oro-digital-facial dysostosis; grob linguofacial dysplasia)                                                                                                                  

        Papillon-Leage-Psaume Syndrome (Oro-Digital-Facial Syndrome; Linguofacial Dysplasia of Grob; Gorlin Syndrome; Dysplasia Linguofacialis; OFD Syndrome; Oro-Digital-Facial Dysostosis; Grob Linguofacial Dysplasia)                                    [...]

        Barrier deprivation syndrome (binkhorst membrane deprivation syndrome; worst decompartmentalization of eye syndrome)

        Barrier Deprition Syndrome (Binkhorst Membrane Deprition Syndrome; Worst Detmentalization of Eye Syndrome) General: Intracapsular cataract extraction; trauma to posterior capsule with extracapsular cataract extraction; more frequent in [...]

        Cataract, congenital or juvenile (cataract, juvenile, hutterite type)                                                205

        Cataract, Congenital or Junile (Cataract, Junile, Hutterite Type)                              [...]

        Peters anomaly                                                                                                                                         

        Peters Anomaly                                                                                                                                          General: Autosomal recessi; may be morphologic entity with seral eye syndromes, inclu [...]

        Microphthalmos, myopia, and corectopia                                                                                             

        Microphthalmos, Myopia, and Corectopia                                                                                              General: Autosomal dominant; characterized by microphthalmos, myopia, and corectopia. Ocular: Microphthalm [...]

        Choroidoretinal degeneration with retinal reflex in heterozygous women                                      242

        Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women                              [...]

        Komoto syndrome (congenital eyelid tetrad; cet)                                                                            6

        Komoto Syndrome (Congenital Eyelid Tetrad; CET)                                                                            6 General: Autosomal dominant; all races affected; most patients are of normal intelligence. Ocular: Ptosis; epicant [...]

        Hansen disease (leprosy)                                                                                                                         5

        Hansen Disease (Leprosy)                                                                                                                         5 General: Communicable disease caused by Mycobacterium leprae. Ocular: Keratitis; leukoma; pan [...]

        Jugular foramen syndrome (vernet syndrome)                                                                                   6

        Jugular Foramen Syndrome (rnet Syndrome)                                                                                   6 General: Injuries, aneurysms, and tumors (more commonly due to metastatic lesion than primary neoplasms) affecting [...]

        Foster kennedy syndrome (basal-frontal syndrome; gowers-paton-kennedy syndrome)           

        Foster Kennedy Syndrome (Basal-Frontal Syndrome; Gowers-Paton-Kennedy Syndrome)            General: Caused by tumor in base of frontal lobe or sphenoidal meningioma. Ocular: Central scotoma may be present on side of optic atrophy; enlarge [...]

        Ohaha syndrome (ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis)                          

        OHAHA Syndrome (Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, Athetosis)                           General: Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis (OHARA) are distinguishing symptoms; sudden onset of deafness at an age [...]

        Ophthalmoplegia, progressive external, with ragged red fibers                                                      

        Ophthalmoplegia, Progressi External, with Ragged Red Fibers                                                       General: Autosomal dominant. Ocular: Progressi ophthalmoplegia. Clinical: Ragged red fibers in skeletal muscle from t [...]

        Williams-beuren syndrome (supravalvular aortic stenosis; beuren elfin face; hypercalcemia supravalvular aortic stenosis; hypercalcemic face)                                                                                                   

        Williams-Beuren Syndrome (Supravallar Aortic Stenosis; Beuren Elfin Face; Hypercalcemia Supravallar Aortic Stenosis; Hypercalcemic Face)                                                                                                    [...]

        Corneal crystals, myopathy, and nephropathy                                                                                     296

        Corneal Crystals, Myopathy, and Nephropathy                                  &nb [...]

        Capsular block syndrome                                                                                                                        195

        Capsular Block Syndrome                                       [...]

        Thalasselis syndrome                                                                                                                              1

        Thalasselis Syndrome                                                                                                                              1 General: Keratoconus-tetany-menopause. Ocular: Spontaneous keratoconus. Clinical: Syndrom [...]

        German syndrome (fetal trimethadione; tridione)                                                                            

        German Syndrome (Fetal Trimethadione; Tridione)                                                                             General: Both sexes affected; prenatal onset; occurs when trimethadione or paramethadione is taken during pregnancy [...]

        Wagner syndrome (hyaloideoretinal degeneration; hereditary hyaloideoretinal degeneration and palatoschisis; clefting syndrome; goldmann-favre syndrome; favre hyaloideoretinal degeneration; retinoschisis with early hemeralopia)                                                                                                  1

        Wagner Syndrome (Hyaloideoretinal Degeneration; Hereditary Hyaloideoretinal Degeneration and Palatoschisis; Clefting Syndrome; Goldmann-Fae Syndrome; Fae Hyaloideoretinal Degeneration; Retinoschisis with Early Hemeralopia)                      [...]

        Retinal vascular hypoplasia with persistence of primary vitreous                                                  

        Retinal Vascular Hypoplasia with Persistence of Primary Vitreous                                                   General: Bilateral congenital retinopathy characterized by retinal vascular hypoplasia and persistence of primary treous; e [...]

        Pigmentary ocular dispersion syndrome (pigmentary glaucoma)                                                    

        Pigmentary Ocular Dispersion Syndrome (Pigmentary Glaucoma)                                                     General: Polygenic inheritance; onset at arage age 52 years; distribution of pigment in chamber angle; atrophy of posterior ir [...]

        Metastatic bacterial endophthalmitis                                                                                                     

        Metastatic Bacterial Endophthalmitis                                                                                                      General: Causati agent usually of low pathogenicity (e.g., Staphylococcus albus, Staphylococcus epide [...]

        Measles (morbilli; rubeola)                                                                                                                      7

        Measles (Morbilli; Rubeola)                                                                                                                      7 General: Acute, extremely communicable disease that affects young school-aged children; caused [...]

        Wallenberg syndrome (dorsolateral medullary syndrome; lateral bulbar syndrome)                 1

        Wallenberg Syndrome (Dorsolateral Medullary Syndrome; Lateral Bulbar Syndrome)                 1 General: Occlusion of the posterior inferior cerebellar artery; onset after age 40 years; similar to Babinski-Nageotte syndrome but crossed hemi [...]

        Kaufman oculocerebrofacial syndrome                                                                                                 6

        Kaufman Oculocerebrofacial Syndrome                                                                                                 6 General: Autosomal recessi; significant positi and negati features. Ocular: Hypertelorism; epicantha [...]

        Sunset syndrome                                                                                                                                     1

        Sunset Syndrome                                                                                                                                     1 General: Occurs when the capsule or zonules ha been sufficiently damaged to allow the post [...]

        Amebiasis (amebic dysentery, entamoeba histolytica)

        Amebiasis (Amebic Dysentery, Entamoeba Histolytica)                                                                               General: Caused by Entamoeba histolytica; E. histolytica cysts in stools are diagnostic. Ocular: Conjunctit [...]

        Velocardiofacial syndrome                                                                                                                    

        Velocardiofacial Syndrome                                                                                                                     General: Autosomal dominant; anomaly of neural crest derivatis; most common syndrome of clefting [...]

        Headache neurologic defects and cerebrospinal fluid lymphcytosis syndrome                              5

        Headache Neurologic Defects and Cerebrospinal Fluid Lymphcytosis Syndrome                              5 General: Age range 7-52 years of age; no gender bias Ocular: Papillema; homonymous hemianopia; photopsias; sixth ner palsy Clini [...]

        Isotretinoin teratogen syndrome                                                                                                            

        Isotretinoin Teratogen Syndrome                                                                                                             General: Maternal ingestion of isotretinoin (Accutane) during early pregnancy. Ocular: Small palpeb [...]

        Dengue fever                                                                                                                                             357

        Dengue Fer                                       &nbs [...]

        Polymyositis-dermatomyositis (dermatomucomyositis; neuromyositis; polymyositis gregarina; wagner-unverricht syndrome)                                                                                                             

        Polymyositis-Dermatomyositis (Dermatomucomyositis; Neuromyositis; Polymyositis Gregarina; Wagner-Unrricht Syndrome)                                                                                                              General: Aut [...]

        Pompe disease (generalized glycogenosis)                                                                                          

        Pompe Disease (Generalized Glycogenosis)                                                                                           General: Absence of acid maltase; type II glycogen storage disease with decreased acid maltase resulting in el [...]

        Joubert syndrome (familial cerebellar vermis agenesis)                                                                   

        Joubert Syndrome (Familial Cerebellar Vermis Agenesis)                                                                    General: Autosomal recessi; both sexes affected; onset in early infancy. Ocular: Choroidal coloboma; nystagmus; oc [...]

        Dermoid (dermoid choristoma; dermoid cyst; dermolipoma; lipodermoid)                                   361

        Dermoid (Dermoid Choristoma; Dermoid Cyst; Dermolipoma; Lipodermoid)                             &nb [...]

        Bonnet-dechaume-blanc syndrome (cerebroretinal arteriovenous aneurysm syndrome; neuroretinoangiomatosis syndrome; wyburn-mason syndrome)                                                       163

        Bonnet-Dechaume-Blanc Syndrome (Cerebroretinal Arterionous Aneurysm Syndrome; Neuroretinoangiomatosis Syndrome; Wyburn-Mason Syndrome)                &nbs [...]

        Von sallmann-paton-witkop syndrome (hereditary benign intraepithelial dyskeratosis; witkop-von sallmann syndrome; hbid syndrome)                                                                           1

        Von Sallmann-Paton-Witkop Syndrome (Hereditary Benign Intraepithelial Dyskeratosis; Witkop-n Sallmann Syndrome; HBID Syndrome)                                                                           1 General: Autosomal dominant; conjun [...]

        Tapetal-like reflex syndrome                                                                                                               1

        Tapetal-Like Reflex Syndrome                                                                                                               1 General: Rare. Ocular: Ring scotoma; discrete bright yellow spots in posterior polar region deep t [...]

        Rubella syndrome (congenital rubella syndrome; german measles; gregg syndrome)              1

        Rubella Syndrome (Congenital Rubella Syndrome; German Measles; Gregg Syndrome)              1 General: Rubella infection of the mother during first trimester of pregnancy; ocular disease is the most commonly found abnormality in patients wit [...]

        Hennebert syndrome (luetic-otitic-nystagmus syndrome)                                                                 5

        Hennebert Syndrome (Luetic-Otitic-Nystagmus Syndrome)                                                                 5 General: Caused by congenital syphilis; manifestations in childhood; when a fistula in the labyrinth exists, compression o [...]

        Hartnup syndrome (pellagra-cerebellar ataxia-renal aminoaciduria syndrome; h disease; niacin deficiency)                                                                                                                                                 

        Hartnup Syndrome (pellagra-Cerebellar Ataxia-Renal Aminoaciduria Syndrome; H Disease; Niacin Deficiency)                                                                                                                                                  [...]

        Pityriasis rubra pilaris (kaposi disease [2]; devergie disease; hebra disease; tarral-besnier disease; lichen ruber; lichen ruber acuminatus; pityriasis pilaris)                                                9

        Pityriasis Rubra Pilaris (Kaposi Disease [2]; Dergie Disease; Hebra Disease; Tarral-Besnier Disease; Lichen Ruber; Lichen Ruber Acuminatus; Pityriasis Pilaris)                                                9 General: Abnormal keratinizat [...]

        H

        H Haemophilus Aegyptius (Koch-Weeks Bacillus)                                                                                     General: Caused by gram-negati Koch-Weeks bacillus in warm-climate regions; characterized by a 24- [...]

        Naffziger syndrome (scalenus anticus syndrome)                                                                               

        Naffziger Syndrome (Scalenus Anticus Syndrome)                                                                                General: Compression of brachial plexus and subclavian artery by scalenus anticus muscle; symptoms ry from mild, [...]

        P

        P e Syndrome (Hypertensi Diencephalic Syndrome)                                                                       General: Irritation of parasympathetic and sympathetic centers in diencephalon; intradermal histamine 0.25 mg [...]

        Cerebellar degeneration with slow movements                                                                                     221

        Cerebellar Degeneration with Slow Moments                                  &nb [...]

        Oculocerebellar tegmental syndrome                                                                                                    

        Oculocerebellar Tegmental Syndrome                                                                                                     General: scular lesion of mesencephalon with softening in peduncular area. Ocular: Paralysis of associ [...]

        Hypotrichosis with juvenile macular dystrophy syndrome (hjmd)                                                    

        Hypotrichosis with juvenile macular dystrophy syndrome (HJMD)                                                     General: Rare; autosomal recessive. Ocular: Macular dystrophy; hypotrichosis; treous hemorrhage in newborns Clinical: [...]

        Cushing (1) syndrome (adrenocortical syndrome; hyperadrenalism syndrome; pituitary basophilism; suprarenal syndrome)                                                                                                                              335

        Cushing (1) Syndrome (Adrenocortical Syndrome; Hyperadrenalism Syndrome; Pituitary Basophilism; Suprarenal Syndrome)                     &nb [...]

        Pupil, egg-shaped                                                                                                                                  

        Pupil, Egg-Shaped                                                                                                                                   General: Autosomal dominant; rare. Ocular: Ol pupils; enlarged pupils; pupils react poor [...]

        Leri syndrome (pleonosteosis syndrome; carpal tunnel syndrome)                                                 

        Leri Syndrome (pleonosteosis Syndrome; Carpal Tunnel Syndrome)                                                  General: Autosomal dominant type of congenital osseous dystrophy; early epiphyseal bone formation of extremities; Morton metatars [...]

        Arthrogryposis multiplex congenita

        Arthrogryposis Multiplex Congenita General: Heterogeneous group of disorders of multiple proposed etiologies; often one manifestation of a complex of congenital anomalies; probable autosomal recessi transmission; found in Eskimos; affects [...]

        Schizophrenia                                                                                                                                           1

        Schizophrenia                                                                                                                                           1 General: Organic brain syndrome due to degeneration or toxic, infectious, or meolic c [...]

        Argyll robertson syndrome (spinal miosis)

        Argyll Robertson Syndrome (Spinal Miosis)                                                                                                 General: Caused by syphilis or, rarely, epidemic encephalitis; disseminated sclerosis; diabetes; brain [...]

        Darier-white syndrome (keratosis follicularis; dyskeratosis follicularis syndrome; psorospermosis)                                                                                                                                          345

        Darier-White Syndrome (Keratosis Follicularis; Dyskeratosis Follicularis Syndrome; Psorospermosis)                       &nb [...]

        Craniofacial, deafness, hand syndrome                                                                                                 312

        Craniofacial, Deafness, Hand Syndrome                                   &nb [...]

        Rhabdomyosarcoma                                                                                                                               

        Rhabdomyosarcoma                                                                                                                                General: Most common malignant orbital neoplasm of childhood; usually occurs before age 10 years; [...]

        Optic nerve hypoplasia, familial (bilateral, unilateral)                                                                       

        Optic Ner Hypoplasia, Familial (Bilateral, Unilateral)                                                                        General: Autosomal dominant; congenital defect of optic ner and retina that occurs in both unilateral and bila [...]

        Osteogenesis imperfecta congenita, microcephaly, and cataracts                                                     

        Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts                                                      General: Autosomal recessi. Ocular: Cataracts; blue sclera; keratoconus. Clinical: Brain abnormally small; multiple p [...]

        Oculocerebrocutaneous syndrome (delleman syndrome)                                                                    

        Oculocerebrocutaneous Syndrome (Delleman Syndrome)                                                                     General: Congenital; possibly autosomal recessive or a result of an enronmental problem; Dutch descent appears to be a p [...]

        Cherry-red spot myoclonus syndrome (type i sialidosis)                                                                  235

        Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis)                                &nbs [...]

        Brown-marie syndrome (brown-marie ataxic syndrome; sanger brown syndrome; hereditary ataxia syndrome; marie hereditary ataxia)                                                                                                      176

        Brown-Marie Syndrome (Brown-Marie Ataxic Syndrome; Sanger Brown Syndrome; Hereditary Ataxia Syndrome; Marie Hereditary Ataxia)                   &nb [...]

        Smallpox (variola)                                                                                                                                  

        Smallpox (Variola)                                                                                                                                   General: Highly contagious cutaneous disease caused by ral infection. Ocular: Conjunctiv [...]

        Sunrise syndrome                                                                                                                                    1

        Sunrise Syndrome                                                                                                                                    1 General: Occurs when the intraocular lens (IOL) optic is displaced superiorly out of the s [...]

        Morphea (localized scleroderma; circumscribed scleroderma)                                                        

        Morphea (Localized Scleroderma; Circumscribed Scleroderma)                                                         General: Localized chronic connecti tissue disease of unknown etiology; etiology remains unknown, although there is a possi [...]

        Ganser syndrome (pseudodementia; nonsense syndrome; prison psychosis syndrome)                 4

        Ganser Syndrome (Pseudodementia; Nonsense Syndrome; Prison Psychosis Syndrome)                 4 General: Found in prisoners and patients with schizophrenia; disparity between the person's complaints and mental alertness. Ocular: Patient [...]

        Histidinemia (hyperhistidinemia; histidase deficiency)                                                                         5

        Histidinemia (Hyperhistidinemia; Histidase Deficiency)                                                                         5 General: Autosomal recessi; abnormality of amino acid meolism due to lack of enzyme histidine ammonia lyase; [...]

        Batten-mayou syndrome (spielmeyer-vogt syndrome; mayou-batten disease; stock-spielmeyer- vogt syndrome; cerebroretinal degeneration; pigmentary retinal lipoid neuronal heredodegeneration; vogt-spielmeyer syndrome; juvenile ganglioside lipidosis; neuronal  ceroid lipofuscinosis; myoclonic variant of cerebral lipidosis; batten disease; cerebromacular dystrophy; juvenile amaurotic family idiocy; spielmeyer-sjögren syndrome)                                                                   127

        Batten-Mayou Syndrome (Spielmeyer-Vogt Syndrome; Mayou-Batten Disease; Stock-Spielmeyer- Vogt Syndrome; Cerebroretinal Degeneration; Pigmentary Retinal Lipoid Neuronal Heredodegeneration; Vogt-Spielmeyer Syndrome; Junile Gangl [...]

        Tropical pancreatic diabetes (tpd)                                                                                                     

        Tropical Pancreatic Diabetes (TPD)                                                                                                      General: Secondary diabetes as a result of chronic calcific pancreatitis; limited geographically to a few [...]

        Bornholm disease (epidemic pleurodynia)                                                                                             164

        Bornholm Disease (Epidemic Pleurodynia)                                   & [...]

        Macular dystrophy, fenestrated sheen type                                                                                        

        Macular Dystrophy, Fenestrated Sheen Type                                                                                         General: Autosomal dominant; progressi; onset in the sixth decade. Ocular: Yellowish retractile sheen in se [...]

        Iron deficiency anemia (microcytic hypochromic anemia)                                                                

        Iron Deficiency Anemia (Microcytic Hypochromic Anemia)                                                                 General: Conjunctival pallor; small retinal hemorrhages; diplopia; sual field defects; fixed and dilated pupil; swelling [...]

        Vertebral basilar artery syndrome                                                                                                      

        Vertebral Basilar Artery Syndrome                                                                                                       General: 'Whiplash' injury with hyperextension of the neck followed by rapid forward moment of the head [...]

        Meningococcemia (neisseria meningitides; meningitis)                                                                          7

        Meningococcemia (Neisseria Meningitides; Meningitis)                                                                          7 General: Systemic bacterial infection caused by Neisseria meningitides; can be present chronically in patients wit [...]

        Cushing (2) syndrome (angle tumor syndrome; cerebellopontine angle syndrome; pontocerebellar angle tumor syndrome; acoustic neuroma syndrome)                                                                      336

        Cushing (2) Syndrome (Angle Tumor Syndrome; Cerebellopontine Angle Syndrome; Pontocerebellar Angle Tumor Syndrome; Acoustic Neuroma Syndrome)                &n [...]

        Hurler syndrome (pfaundler-hurler syndrome; gargoylism; dysostosis multiplex; mps ih syndrome; systemic mucopolysaccharidosis type ih; mucopolysaccharidosis ih)                                               5

        Hurler Syndrome (Pfaundler-Hurler Syndrome; Gargoylism; Dysostosis Multiplex; MPS IH Syndrome; Systemic Mucopolysaccharidosis Type IH; Mucopolysaccharidosis IH)                                               5 General: Autosomal recessi inh [...]

        Infantile neuroaxonal dystrophy (seitelberger disease [2]; spastic amaurotic axonal idiocy)       

        Infantile Neuroaxonal Dystrophy (Seitelberger Disease [2]; Spastic Amaurotic Axonal Idiocy)        General: Axonal disease; occurs chiefly in female infants, less frequently in older children; etiology possibly tamin E deficiency; autosom [...]

        Kearns-sayre syndrome (ophthalmoplegia plus syndrome; kearns-shy syndrome; kearns disease)         6

        Kearns-Sayre Syndrome (Ophthalmoplegia Plus Syndrome; Kearns-Shy Syndrome; Kearns Disease)         6 General: Etiology unknown; sporadic (nonhereditary); onset before age 20 years; external ophthalmoplegia; complete heart block. Ocular: P [...]

        Contact dermatitis (dermatitis venenata)                                                                                              292

        Contact Dermatitis (Dermatitis nenata)                                    [...]

        Craniometaphyseal dysplasia syndrome (pyle syndrome; familial metaphyseal dysplasia; bakwin-krida syndrome; leontiasis ossea)                                                                                           314

        Craniometaphyseal Dysplasia Syndrome (Pyle Syndrome; Familial Metaphyseal Dysplasia; Bakwin-Krida Syndrome; Leontiasis Ossea)                    [...]

        Ocular dominance                                                                                                                                    

        Ocular Dominance                                                                                                                                     General: Autosomal dominant; 97% of people with normal vision ha a sighting-dominant eye; [...]

        Nystagmus, primary hereditary (congenital nystagmus)                                                                     8

        Nystagmus, Primary Hereditary (Congenital Nystagmus)                                                                     8 General: Autosomal recessi, sex-linked or irregular dominant; may be associated with albinism. Ocular: Horizontal [...]

        Hmc syndrome (hypertelorism, microtia, facial clefting syndrome)                                              

        HMC Syndrome (Hypertelorism, Microtia, Facial Clefting Syndrome)                                               General: Delopmental defect marked by an abnormally wide space between two organs or parts; autosomal recessi. Ocular: Hyp [...]

        Carotid artery syndrome (carotid vascular insufficiency syndrome; ocular ischemic syndrome) 200

        Carotid Artery Syndrome (Carotid scular Insufficiency Syndrome; Ocular Ischemic Syndrome) 200 General: Causes include microemboli, atherosclerotic plaques, arteritis, arterial compression by cicatricial tissue surro [...]

        Creutzfeldt-jakob syndrome (spastic pseudosclerosis; corticostriatospinal degeneration; disseminated encephalopathy; heidenhaim syndrome; presenile dementia with spastic paralysis; presenile dementia-cortical degeneration syndrome)                                                                                                            321

        Creutzfeldt-Jakob Syndrome (Spastic Pseudosclerosis; Corticostriatospinal Degeneration; Disseminated Encephalopathy; Heidenhaim Syndrome; Presenile Dementia with Spastic Paralysis; Presenile Dementia-Cortical Degeneration Syndrome)&nbs [...]

        Corneal hypesthesia, familial                                                                                                                  302

        Corneal Hypesthesia, Familial                                      [...]

        Pancoast syndrome (hare syndrome; superior pulmonary sulcus syndrome)                                

        Pancoast Syndrome (Hare Syndrome; Superior Pulmonary Sulcus Syndrome)                                 General: Mass occupying lesion in pulmonary apex; erosion of first three ribs frequent; primary bronchogenic carcinoma most frequent cause [...]

        Ascher syndrome (blepharochalasis with struma and double lip)

        Ascher Syndrome (Blepharochalasis with Struma and Double Lip) General: Rare occurrence; blepharochalasis transmitted as a simple dominant; related to delopment of thyroid gland; symptoms usually start around puberty. Ocular: 'Bulging' [...]

        Neurodermatitis (lichen simplex chronicus)                                                                                        

        Neurodermatitis (Lichen Simplex Chronicus)                                                                                         General: Skin altered due to chronic rubbing or scratching. Ocular: Keratoconjunctitis; lid edema; lid pig [...]

        Epithelial erosion syndrome (metaherpetic keratitis; kaufman syndrome; franceschetti dystrophy; posttraumatic keratitis)                                                                                                                           

        Epithelial Erosion Syndrome (Metaherpetic Keratitis; Kaufman Syndrome; Franceschetti Dystrophy; Posttraumatic Keratitis)                                                                                                                            [...]

        Chronic epstein-barr virus (epstein-barr virus, chronic; chronic infectious mononucleosis)     248

        Chronic Epstein-Barr Virus (Epstein-Barr Virus, Chronic; Chronic Infectious Mononucleosis)     248 General: Onset late adolescence or early adulthood; rare. Ocular: Bilateral uit [...]

        Proximal and distal click syndrome of the superior oblique tendon (simulated superior oblique tendon syndrome)                                                                                                                                 

        Proximal and Distal Click Syndrome of the Superior Oblique Tendon (Simulated Superior Oblique Tendon Syndrome)                                                                                                                                  [...]

        Oculopalatocerebral dwarfism (opc dwarfism)                                                                                  

        Oculopalatocerebral Dwarfism (OPC Dwarfism)                                                                                   General: Autosomal recessive; persistent hyperplastic primary treous. Ocular: Persistent hypertrophic primary v [...]

        Weil disease (leptospirosis)                                                                                                                   

        Weil Disease (Leptospirosis)                                                                                                                    General: Acute sere infection caused by Leptospira transmitted by ingestion of food contaminate [...]

        Sandifer syndrome (hiatal hernia-torticollis syndrome)                                                                   1

        Sandifer Syndrome (Hiatal Hernia-Torticollis Syndrome)                                                                   1 General: Inheritance not known; males affected; hiatal hernia. Ocular: Strabismus (not related to existing torticolli [...]

        Oculo-orogenital syndrome (riboflavin deficiency syndrome; gopalan ii syndrome; jolliffe syndrome)                                                                                                                                                 

        Oculo-Orogenital Syndrome (Riboflan Deficiency Syndrome; Gopalan II Syndrome; Jolliffe Syndrome)                                                                                                                                                  [...]

        Plateau iris syndrome                                                                                                                               9

        Plateau Iris Syndrome                                                                                                                               9 General: Rare; occurs in younger age group; presumably due in part to an anterior insertion [...]

        Romberg syndrome (parry-romberg syndrome; progressive hemifacial atrophy; progressive facial hemiatrophy; facial hemiatrophy)                                                                                            1

        Romberg Syndrome (Parry-Romberg Syndrome; Progressi Hemifacial Atrophy; Progressi Facial Hemiatrophy; Facial Hemiatrophy)                                                                                            1 General: Autosomal do [...]

        Oculocerebellar tegmental syndrome                                                                                                    

        Oculocerebellar Tegmental Syndrome                                                                                                     General: scular lesion of mesencephalon with softening in peduncular area. Ocular: Paralysis of associ [...]

        Acanthosis nigricans

        Acanthosis Nigricans                                                                                                                                       General: Rare skin disease of unknown etiology; occurs at any age; equal frequency in [...]

        Ceroid lipofuscinosis                                                                                                                                228

        Ceroid Lipofuscinosis                                      & [...]

        Monofixation syndrome (blind spot syndrome; primary monofixation)                                          

        Monofixation Syndrome (Blind Spot Syndrome; Primary Monofixation)                                           General: No hereditary factor; uncommon. Ocular: Deviation of eight prism diopters or less by simultaneous prism and cor test; [...]

          - syndrome (18p deletion syndrome)                                                                                                401

          - Syndrome (18p Deletion Syndrome)                                                                                                401 General: Chromosome 18p deletion syndrome. Ocular: Hyp [...]

        Hypervitaminosis d                                                                                                                                   

        Hypertaminosis D                                                                                                                                    General: Excessive tamin D ingestion. Ocular: Band keratopathy; epicanthal folds; osteo [...]

        Beal syndrome                                                                                                                                           130

        Beal Syndrome                                       &nb [...]

        Hallgren syndrome (retinitis pigmentosa-deafness-ataxia syndrome; usher syndrome type i)   5

        Hallgren Syndrome (Retinitis Pigmentosa-Deafness-Ataxia Syndrome; Usher Syndrome Type I)   5 General: Autosomal recessi inheritance. Ocular: Horizontal nystagmus (10%); cataract; retinitis pigmentosa; retinal atrophy; narrow retinal s [...]

        Kimmelstiel-wilson syndrome (diabetes mellitus-hypertension-nephrosis syndrome; diabetes- nephrosis syndrome; diabetic glomerulosclerosis; intercapillary glomerulosclerosis; renal glomerulohyalinosis-diabetic syndrome)                                                                                              

        Kimmelstiel-Wilson Syndrome (Diabetes Mellitus-Hypertension-Nephrosis Syndrome; Diabetes- Nephrosis Syndrome; Diabetic Glomerulosclerosis; Intercapillary Glomerulosclerosis; Renal Glomerulohyalinosis-Diabetic Syndrome)                              [...]

        Head-riddoch syndrome                                                                                                                          5

        Head-Riddoch Syndrome                                                                                                                          5 General: Occurs in quadriplegics; caused by distention of a viscus below the lel of spinal cor [...]

        Proteus syndrome                                                                                                                                   

        Proteus Syndrome                                                                                                                                    General: A harmarteo neoplastic disorder with riable clinical manifestations Ocular: Myo [...]

        Craniosynostosis-mental retardation-clefting syndrome                                                                    318

        Craniosynostosis-Mental Retardation-Clefting Syndrome                                  [...]

        Farber syndrome (farber lipogranulomatosis; disseminated lipogranulomatosis)                        

        Farber Syndrome (Farber Lipogranulomatosis; Disseminated Lipogranulomatosis)                         General: Autosomal recessi inheritance; onset shortly after birth; rare; ceramidase deficiency. Ocular: Parafoal edema with mild che [...]

        Papillon-leage-psaume syndrome (oro-digital-facial syndrome; linguofacial dysplasia of grob; gorlin syndrome; dysplasia linguofacialis; ofd syndrome; oro-digital-facial dysostosis; grob linguofacial dysplasia)                                                                                                                  

        Papillon-Leage-Psaume Syndrome (Oro-Digital-Facial Syndrome; Linguofacial Dysplasia of Grob; Gorlin Syndrome; Dysplasia Linguofacialis; OFD Syndrome; Oro-Digital-Facial Dysostosis; Grob Linguofacial Dysplasia)                                    [...]

        Mikulicz-radecki syndrome (mikulicz syndrome; dacryosialoadenopathy; mikulicz-sjögren syndrome)                                                                                                                                                 

        Mikulicz-Radecki Syndrome (Mikulicz Syndrome; Dacryosialoadenopathy; Mikulicz-Sjögren Syndrome)                                                                                                                                                  [...]

        Addison syndrome (addison disease; idiopathic hypoparathyroidism; adrenal cortical insufficiency; moniliasis-idiopathic hypoparathyroidism)

        Addison Syndrome (Addison Disease; Idiopathic Hypoparathyroidism; Adrenal Cortical  Insufficiency; Moniliasis-Idiopathic Hypoparathyroidism)                                                                                                  Ge [...]

        Hepatic failure                                                                                                                                           5

        Hepatic Failure                                                                                                                                           5 General: Lir failure from infections or from toxic or inflammatory causes. Ocular: [...]

        Weber-christian syndrome (pfeiffer-weber-christian syndrome)                                                   1

        Weber-Christian Syndrome (Pfeiffer-Weber-Christian Syndrome)                                                   1 General: Etiology unknown; subcutaneous inflammatory lesions; occurs at any age; no gender dominance. Ocular: Secondary glauc [...]

        Cerebral autosomal domint arteriopathy                                                                                              222

        Cerebral Autosomal Domint Arteriopathy                                   &n [...]

        Retinopathy, pigmentary, and mental retardation (mirhosseini-holmes-walton syndrome)       

        Retinopathy, Pigmentary, and Mental Retardation (Mirhosseini-Holmes-Walton Syndrome)        General: Autosomal recessi; this disorder may be the same as (or alleli) to Cohen syndrome. Ocular: Pigmentary retinal degeneration; cataract; [...]

        Pseudopapilledema (optic nerve head drusen)                                                                                  

        Pseudopapilledema (Optic Ner Head Drusen)                                                                                   General: Autosomal dominant; incidence in males and females is approximately the same; two thirds of cases are bila [...]

        Nystagmus, congenital (congenital idiopathic nystagmus)                                                                  8

        Nystagmus, Congenital (Congenital Idiopathic Nystagmus)                                                                  8 General: Autosomal dominant; pattern of inheritance in congenital nystagmus, whether of the 'motor' or 'sensory' type, [...]

        Nystagmus, voluntary                                                                                                                               8

        Nystagmus, Voluntary                                                                                                                               8 General: Autosomal dominant; usually is purely horizontal, but it may be rtical or-torsiona [...]

        Pappataci fever (phlebotomus fever; sandfly fever)                                                                          

        Pappataci Fever (Phlebotomus Fever; Sandfly Fever)                                                                           General: Viral etiology; transmitted by the sandfly Phlebotomus papatasii. Ocular: Pick sign of conjuncti (conj [...]

        Arnold-chiari syndrome

        Arnold-Chiari Syndrome (Platybasia Syndrome; Cerebellomedullary Malformation Syndrome;  Basilar Impressions) General: Malformation of the hindbrain; developmental deformity of the occipital bone and upper cercal spine; recognized in childr [...]

        Wrinkly skin syndrome                                                                                                                          1

        Wrinkly Skin Syndrome                                                                                                                          1 General: Autosomal recessi; consanguinity; similar to pseudoxanthoma elasticum and Ehlers-Danlo [...]

        Dominant optic atrophy syndrome (dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy)                                                                                                                          379

        Dominant Optic Atrophy Syndrome (Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, and Myopathy)                    &nbs [...]

        Charlin syndrome (nasal nerve syndrome; nasociliaris nerve syndrome; nasociliary syndrome) 233

        Charlin Syndrome (Nasal Ner Syndrome; Nasociliaris Ner Syndrome; Nasociliary Syndrome) 233 General: Neuritis of the nasal branch of the trigeminal ner; three typical spots of pain according to the ner dis [...]

        Pseudo malignant glaucoma syndrome                                                                                               

        Pseudo malignant Glaucoma Syndrome                                                                                                General: Related to obstruction of aqueous flow either by residual anterior hyaloid or by fibrin and other infl [...]

        Unverricht syndrome (familial myoclonia syndrome; lafora disease)                                           

        Unrricht Syndrome (Familial Myoclonia Syndrome; Lafora Disease)                                            General: Fatal hereditary form of diffuse neuronal disease; autosomal recessi; late childhood; death within 2 to 10 years from on [...]

        Color blindness, partial, deutan series (deuteranopia)                                                                        270

        Color Blindness, Partial, Deutan Series (Deuteranopia)                                &nbs [...]

        Nothnagel syndrome (ophthalmoplegia-cerebellar ataxia syndrome)                                              8

        Nothnagel Syndrome (Ophthalmoplegia-Cerebellar Ataxia Syndrome)                                              8 General: Lesion of superior cerebellar peduncle, red nucleus, and emerging oculomotor fibers, such as pineal tumor, or tumor or [...]

        Microphthalmos, pigmentary retinopathy, glaucoma                                                                         

        Microphthalmos, Pigmentary Retinopathy, Glaucoma                                                                          General: Autosomal dominant; three disorders combined. Ocular: Microphthalmos; pigmentary retinopathy; glaucoma. C [...]

        Ophthalmoplegic migraine syndrome                                                                                                    

        Ophthalmoplegic Migraine Syndrome                                                                                                     General: Symptoms produced by ipsilateral herniation of hippocampal gyrus of temporal lobe through incisura [...]

        Hypothermal injury (cryoinjury; frostbite)                                                                                         

        Hypothermal Injury (Cryoinjury; Frostbite)                                                                                          General: Loss of body heat to the point of local cold injury or freezing of tissue. Ocular: Localized cryo [...]

        Ectopia lentis with ectopia of pupil (ectopia lentis et pupillae)                                                         398

        Ectopia Lentis with Ectopia of Pupil (Ectopia Lentis et Pupillae)                               [...]

        Goodpasture syndrome                                                                                                                           

        Goodpasture Syndrome                                                                                                                            General: Chronic, relapsing pulmonary hemosiderosis, often in association with fatal glomerulonep [...]

        Fisher syndrome (ophthalmoplegia ataxia areflexia syndrome; miller-fisher syndrome)            

        Fisher Syndrome (Ophthalmoplegia Ataxia Areflexia Syndrome; Miller-Fisher Syndrome)             General: Acute idiopathic polyneuritis; prognosis good; complete recovery over several weeks (riant of Guillain-Barrée Syndrome; see Guillain- [...]

        Bell palsy (idiopathic facial paralysis)                                                                                                    135

        Bell Palsy (Idiopathic Facial Paralysis)                                    [...]

        Hla-b27 syndromes                                                                                                                                5

        HLA-B27 Syndromes                                                                                                                                5 General: HLA system is the major histocompatibility complex (MHC) found on chromosome 6; associ [...]

        11q- syndrome                                                                                                                                          

        11q- Syndrome                                                                                                                                           General: Chromosome II deletion syndrome. Ocular: Telecanthus/hypertelorism; rarely, [...]

        Kaposi disease (kaposi sarcoma; kaposi hemorrhagic sarcoma; multiple idiopathic hemorrhagic sarcoma; kaposi varicelliform eruption)                                                                                                               

        Kaposi Disease (Kaposi Sarcoma; Kaposi Hemorrhagic Sarcoma; Multiple Idiopathic Hemorrhagic Sarcoma; Kaposi ricelliform Eruption)                                                                                                                [...]

        Multiple evanescent white-dot syndrome (mewds)                                                                         

        Multiple Evanescent White-Dot Syndrome (MEWDS)                                                                          General: Unilateral disease including multiple white dots at the lel of the pigment epithelium; etiology unknown; recur [...]

        Computer user syndrome                                                                                                                        272

        Computer User Syndrome                                       [...]

        Aceruloplasminemia

        Aceruloplasminemia                                                                                                                                        General: Autosomal recessi, adult-onset Ocular: Maculopathy which resembles aging m [...]

        Microcephaly with chorioretinopathy                                                                                                    

        Microcephaly with Chorioretinopathy                                                                                                     General: Autosomal dominant; congenital infection; exposure to irradiation, chemical agents, mother's inf [...]

        Congenital heart disease                                                                                                                          281

        Congenital Heart Disease                                     &nbs [...]

        Double whammy syndrome (voluntary propulsion of the eyes)                                                        382

        Double Whammy Syndrome (luntary Propulsion of the Eyes)                               &n [...]

        Marshall (re) syndrome                                                                                                                          7

        Marshall (RE) Syndrome                                                                                                                          7 General: Present from birth; etiology unknown; death usually from pneumonia before age 20 months [...]

        Kinsbourine syndrome (dancing eyes syndrome; opsoclonus-myoclonus syndrome)                    6

        Kinsbourine Syndrome (Dancing Eyes Syndrome; Opsoclonus-Myoclonus Syndrome)                    6 General: Etiology unknown; occurs in infancy and early childhood; myoclonic encephalopathy; has been reported as the only manifestation of a pos [...]

        Mercury poisoning (minamata syndrome)                                                                                             7

        Mercury Poisoning (Minamata Syndrome)                                                                                             7 General: Both sexes affected; onset seral weeks or months after ingestion of fish from contaminated water or [...]

        Elschnig syndrome (elschnig syndrome ii)                                                                                           

        Elschnig Syndrome (Elschnig Syndrome II)                                                                                            General: Present from birth; etiology unknown. Ocular: Elongation of lid fissure with downward displaceme [...]

        Achard syndrome

        Achard Syndrome                                                                                                                                            General: All features of Marfan syndrome, with the addition of dysostosis mandibulofac [...]

        Waldenström syndrome (macroglobulinemia)                                                                                     1

        Waldenström Syndrome (Macroglobulinemia)                                                                                     1 General: Occurs mainly in males or age 50 years; chromosomal abnormalities were reported, with most of the cells [...]

        Pemphigus vulgaris                                                                                                                                  

        Pemphigus Vulgaris                                                                                                                                   General: Primarily in middle-aged people; prognosis ries, from poor to chronic; generalize [...]

        Niemann-pick syndrome (essential lipoid histiocytosis; sea-blue histiocytosis; sphingomyelinase deficiency)                                                                                                                                                                     8

        Niemann-Pick Syndrome (Essential Lipoid Histiocytosis; Sea-Blue Histiocytosis; Sphingomyelinase Deficiency)                                                                                                                                               [...]

        Pseudomonas aeruginosa infections                                                                                                     

        Pseudomonas Aeruginosa Infections                                                                                                      General: Gram-negati rod with secondary contaminant of superficial wounds; Pseudomonas organisms produce [...]

        Cerebral cholesterinosis (cerebrotendinous xanthomatosis; ctx)                                                    223

        Cerebral Cholesterinosis (Cerebrotendinous Xanthomatosis; CTX)                              & [...]

        Acinetobacter (mima polymorpha; acinetobacter iwoffi)

        Acinetobacter (Mima Polymorpha; Acinetobacter Iwoffi) General: Gram-negative pleomorphic bacillus Mima; generally occurs in patient with lowered resistance. Ocular: Conjunctitis and chemosis; corneal ulcer; blepharitis; iris prolapse; [...]

        Cryptophthalmia syndrome (cryptophthalmos syndactyly syndrome; fraser syndrome)             332

        Cryptophthalmia Syndrome (Cryptophthalmos Syndactyly Syndrome; Fraser Syndrome)             332 General: Autosomal recessi. Ocular: Microphthalmia; epibulbar d [...]

        Stevens-johnson syndrome (dermatostomatitis; erythema multiforme exudativum; syndroma mucocutaneo-oculare; baader dermatostomatitis syndrome; mucosal-respiratory syndrome; fuchs [2] syndrome; mucocutaneous ocular syndrome)                                                                  

        Stevens-Johnson Syndrome (Dermatostomatitis; Erythema Multiforme Exudatim; Syndroma Mucocutaneo-Oculare; Baader Dermatostomatitis Syndrome; Mucosal-Respiratory Syndrome; Fuchs [2] Syndrome; Mucocutaneous Ocular Syndrome)                        [...]

        Sphenocavernous syndrome                                                                                                                   1

        Sphenocavernous Syndrome                                                                                                                   1 General: Lesion in the cavernous sinus; similar to the superior orbital fissure syndrome (Rochon-Du [...]

        Malaria                                                                                                                                                       

        Malaria                                                                                                                                                        General: Caused by Plasmodium, which is transmitted by mosquito bite, blood transf [...]

        Devic syndrome (ophthalmoencephalomyelopathy; optic myelitis; neuromyelitis optica)              363

        Dec Syndrome (Ophthalmoencephalomyelopathy; Optic Myelitis; Neuromyelitis Optica)              363 General: Etiology unknown; frequent between the ages of 20 and 50 [...]

        Crouzon syndrome (dysostosis craniofacialis; oxycephaly; craniofacial dysostosis; parrot-head syndrome; möbius-crouzon syndrome; hereditary craniofacial dysostosis)                                   327

        Crouzon Syndrome (Dysostosis Craniofacialis; Oxycephaly; Craniofacial Dysostosis; Parrot-Head Syndrome; Möbius-Crouzon Syndrome; Hereditary Craniofacial Dysostosis)           &nbs [...]

        Leroy syndrome                                                                                                                                       

        Leroy Syndrome                                                                                                                                        General: Possible mild increase in mucopolysaccharide excretion. Ocular: Nasal epicanthic [...]

        Posner-schlossman syndrome (glaucomatocyclitic crisis)                                                                

        Posner-Schlossman Syndrome (Glaucomatocyclitic Crisis)                                                                 General: High intraocular tension lasting from hours to several weeks and recurring at rying frequencies; low-grade, int [...]

        Neonatal hemolytic disease of hyperbilirubinemia (kernicterus; bilirubin encephalopathy)        

        Neonatal Hemolytic Disease of Hyperbilirubinemia (Kernicterus; Bilirubin Encephalopathy)         General: Condition with sere neural symptoms associated with high lels of bilirubin in the blood. Ocular: Disturbance of supranuclear [...]

        Myopathy, mitochondrial, with cataract                                                                                               

        Myopathy, Mitochondrial, with Cataract                                                                                                General: Autosomal dominant. Ocular: Early-onset bilateral cataracts; sere ophthalmoplegia; mitochondri [...]

        Hypolipidemia syndrome (hooft syndrome)                                                                                         

        Hypolipidemia Syndrome (Hooft Syndrome)                                                                                          General: Autosomal recessi inheritance; disorder of tryptophan meolism; normal glycolysis disturbed, which [...]

        Ethan syndrome, primary                                                                                                                       

        Ethan Syndrome, Primary                                                                                                                        General: Congenital, esotropia, head turn, and nystagmus coexistent with nystagmus compensation an [...]

        N

        N Naegeli Syndrome (Melanophoric Nes Syndrome; Franceschetti-Jadassohn Syndrome; Naegeli Incontinentia Pigmenti; Reticular Pigmented Dermatosis)                                                                    General: Autoso [...]

        Lichen planus                                                                                                                                            

        Lichen us                                                                                                                                             General: Conjunctil disorder associated with dermatologic disorder; disappears sponta [...]

        Tristichiasis                                                                                                                                               1

        Tristichiasis                                                                                                                                               1 General: Autosomal dominant. Ocular: Three rows of eyelashes. Clinical: None. [...]

        Muscular dystrophy, congenital, with infantile cataract and hypogonadism                                 

        Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism                                  General: Autosomal recessive; rare; reported in isolated Norwegian village. Ocular: Infantile cataract. Clinical: Orian agenesi [...]

        Adrenoleukodystrophy (melanodermic leukodystrophy; sudanophilic leukodystrophy)

        Adrenoleukodystrophy (Melanodermic Leukodystrophy; Sudanophilic Leukodystrophy)                     General: Degenerati meolic disease in which cholesterol with long-chain fatty acids accumulates in affected cells; symptoms usually beg [...]

        Prader-willi syndrome (prader-labhart-willi-fanconi syndrome; h20 syndrome; hypogenital dystrophy with diabetic tendency; hypotonia-hypomentia-hypogonadism-obesity [hhho]   syndrome; royer syndrome)                                                                                                                

        Prader-Willi Syndrome (Prader-Labhart-Willi-Fanconi Syndrome; H20 Syndrome; Hypogenital Dystrophy with Diabetic Tendency; Hypotonia-Hypomentia-Hypogonadism-Obesity [HHHO]   Syndrome; Royer Syndrome)                                                [...]

        Peroneal muscular atrophy (pma; neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway, and autonomic disturbance)                                                                       

        Peroneal Muscular Atrophy (PMA; Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, sual Pathway, and Autonomic Disturbance)                                                                        General: Peroneal muscular atro [...]

        Myopathy, mitochondrial, with cataract                                                                                               

        Myopathy, Mitochondrial, with Cataract                                                                                                General: Autosomal dominant. Ocular: Early-onset bilateral cataracts; sere ophthalmoplegia; mitochondri [...]

        Marquardt-loriaux syndrome (wolfram syndrome; diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; didmoad syndrome)                                                                         7

        Marquardt-Loriaux Syndrome (Wolfram Syndrome; Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome; DIDMOAD Syndrome)                                                                         7 General: Autosomal recessi; pr [...]

        Von herrenschwand syndrome (sympathetic heterochromia)                                                          1

        Von Herrenschwand Syndrome (Sympathetic Heterochromia)                                                          1 General: Congenital anomaly; heterochromia with Horner syndrome; sympathetic palsy from cercal ribs, tumor of the thyroid glan [...]

        De morsier syndrome (septooptic dysplasia)                                                                                         356

        De Morsier Syndrome (Septooptic Dysplasia)                                  &nbs [...]

        Gardner syndrome                                                                                                                                   

        Gardner Syndrome                                                                                                                                    General: Autosomal dominant; both sexes affected; arage onset age 20 years. Ocular: Exoph [...]

        Gradenigro syndrome (temporal syndrome; lannois-gradenigro syndrome)                               

        Gradenigro Syndrome (Temporal Syndrome; Lannois-Gradenigro Syndrome)                                General: Caused by extradural abscess of the petrous portion of the temporal bone; good prognosis. Ocular: Ipsilateral paralysis (cranial [...]

        Bacillus subtilis (hay bacillus)

        Bacillus Subtilis (Hay Bacillus) General: Gram-positive rod found in air, soil, dust, water, milk, and hay; frequently seen in people who work near hay. Ocular: Conjunctitis; ring abscess of cornea; corneal ulcer; endophthalmitis; panop [...]

        Moraxella lacunata                                                                                                                                  

        Moraxella Lacunata                                                                                                                                   General: Gram-negative rod; causes chronic angular blepharoconjunctitis; without treatment [...]

        Hyperopia, high                                                                                                                                        

        Hyperopia, High                                                                                                                                         General: Defect in eyesight in which the focal point falls behind the retina, resulting i [...]

        Empty sella syndrome                                                                                                                             

        Empty Sella Syndrome                                                                                                                              General: Further progression of ocular findings and symptoms after treatment of pituitary tumor [...]

        Aberfeld syndrome

        Aberfeld Syndrome (Schwartz-Jampel Syndrome; CongenitalBlepharophimosis Associated with Generalized Myopathy Syndrome; Ocular and Facial Abnormalities Syndrome)                                                          General: Etiology not [...]

        Malignant hyperpyrexia syndrome (postcataract hyperpyrexia syndrome; postinduction hyperpyrexia syndrome)                                                                                                                         

        Malignant Hyperpyrexia Syndrome (Postcataract Hyperpyrexia Syndrome; Postinduction Hyperpyrexia Syndrome)                                                                                                                          General: Eti [...]

        Raynaud disease (symmetrical gangrene; symmetrical asphyxia)                                                  

        Raynaud Disease (Symmetrical Gangrene; Symmetrical Asphyxia)                                                   General: Primary, or idiopathic, form of paroxysmal digital cyanosis; possible abnormality of sympathetic nerus system; occurs [...]

        Atherosclerosis

        Atherosclerosis General: Etiologic importance of lipid infiltration; cholesterol; patchy nodular form of arteriosclerosis. Ocular: Central retinal artery obstruction; branch retinal artery obstruction; most common cause is embolization fr [...]

        Anterior chamber cleavage syndrome (reese-ellsworth syndrome; peters-plus syndrome)

        Anterior Chamber Cleavage Syndrome (Reese-Ellsworth Syndrome; Peters-Plus Syndrome)               General: Abnormalities in the embryologic delopment of the anterior chamber due to failure of normal migration of mesodermal cells across t [...]

        Dyschondroplasia syndrome (ollier syndrome; enchondromatosis)                                                   393

        Dyschondroplasia Syndrome (Ollier Syndrome; Enchondromatosis)                              &nbs [...]

        Cranial nerves, congenital paresis                                                                                                          308

        Cranial Ners, Congenital Paresis                                     [...]

        Multiple pterygium syndrome, lethal type (pterygium, multiple, lethal type)                              

        Multiple Pterygium Syndrome, Lethal Type (Pterygium, Multiple, Lethal Type)                               General: Autosomal recessi; nonconsanguineous parents; lethal. Ocular: Hypertelorism; epicanthal folds. Clinical: Multiple pter [...]

        Acute hemorrhagic conjunctivitis (ahc; epidemic hemorrhagic keratoconjunctivitis)

        Acute Hemorrhagic Conjunctitis (AHC; Epidemic Hemorrhagic Keratoconjunctitis)                       General: First reported in 1969, first epidemic in United States in 1981; enterorus; explosive onset; usually bilateral; coxsackieru [...]

        Choroideremia (tapetochoroidal dystrophy, progressive; choroidal sclerosis)                                241

        Choroideremia (Tapetochoroidal Dystrophy, Progressi; Choroidal Sclerosis)                             [...]

        Arterial occlusive retinopathy and encephalopathy syndrome

        Arterial Occlusive Retinopathy and Encephalopathy Syndrome                                                                General: Rare; etiology unknown but may be rally induced, immune-mediated disease; most frequent in women; mechanism [...]

        Trisomy 9q syndrome                                                                                                                             1

        Trisomy 9q Syndrome                                                                                                                             1 General: Congenital mental retardation syndrome due to 9p trisomy. Ocular: Hypertelorism; deep [...]

        Cryptococcosis (torulosis)                                                                                                                        331

        Cryptococcosis (Torulosis)                                     &n [...]

        Pemphigus foliaceus (cazenave disease)                                                                                               

        Pemphigus Foliaceus (Cazenave Disease)                                                                                                General: Attacks indiduals of any race, age, or sex; high incidence in Brazil; characterized by bullous s [...]

        West nile virus infection                                                                                                                        1

        West Nile Virus Infection                                                                                                                        1 General: Zoonotic disease transmitted by a mosquito vector with wild birds serng as its reser [...]

        Shamberg disease                                                                                                                                    1

        Shamberg Disease                                                                                                                                    1 General: Common benign skin disorder; self-limiting cutaneous sculitis. Ocular: Discrete [...]

        Ackerman syndrome

        Ackerman Syndrome                                                                                                                                       General: Autosomal recessi; characterized by pyramidal molar roots. Ocular: Junile [...]

        Autoimmune corneal endotheliopathy

        Autoimmune Corneal Endotheliopathy General: Etiology unknown; associated with imtation of an intraocular lens (IOL), pars itis, iritis, secondary herpetic keratitis, and corticosteroid use; rare. Ocular: Stromal edema; migrating line of k [...]

        Poland-möbius syndrome                                                                                                                      

        Poland-Möbius Syndrome                                                                                                                       General: Rare congenital disorder that is a combination of Möbius syndrome and Poland anomaly; has b [...]

        Trisomy 6q syndrome (duplication 6q+6q syndrome)                                                                       

        Trisomy 6q Syndrome (Duplication 6q+6q Syndrome)                                                                        General: Chromosome 6q trisomy syndrome. Ocular: Hypertelorism; mongoloid (down-slanting) palpebral fissures. Clinic [...]

        Bruch membrane drusen                                                                                                                         179

        Bruch Membrane Drusen                                      & [...]

        Thygeson syndrome (keratitis superficialis punctata)                                                                        1

        Thygeson Syndrome (Keratitis Superficialis Punctata)                                                                        1 General: Etiology probably of viral origin; recurrence ery 3 to 4 years. Ocular: Punctate lesions of cornea; ker [...]

        Mumps                                                                                                                                                       

        Mumps                                                                                                                                                        General: Viral infection. Ocular: Conjunctitis; keratitis; corneal ulcer; tenoni [...]

        Coats disease (leber miliary aneurysm; retinal telangiectasia)                                                        257

        Coats Disease (Leber Miliary Aneurysm; Retinal Telangiectasia)                              &nb [...]

        Optic atrophy, cataract, and neurologic disorder                                                                              

        Optic Atrophy, Cataract, and Neurologic Disorder                                                                               General: Autosomal dominant; similar to syndromes of Behr, Marinesco, Sjögren, and Friedreich, which are autosomal [...]

        Maroteaux-lamy syndrome (systemic mucopolysaccharidosis type vi; mps vi syndrome; mucopolysaccharidosis vi)                                                                                                                       7

        Maroteaux-Lamy Syndrome (Systemic Mucopolysaccharidosis Type ; MPS Syndrome; Mucopolysaccharidosis )                                                                                                                       7 General: Onset [...]

        Escherichia coli                                                                                                                                        

        Escherichia Coli                                                                                                                                         General: Gram-negati rod found in the gastrointestinal tract; urinary tract is the usu [...]

        Gangliosidosis gmi type 1 (generalized gangliosidosis [infantile]; norman-landing syndrome; pseudo-hurler lipoidosis)                                                                                                                                      4

        Gangliosidosis GMI Type 1 (Generalized Gangliosidosis [Infantile]; Norman-Landing Syndrome; Pseudo-Hurler Lipoidosis)                                                                                                                                     [...]

        Torre syndrome                                                                                                                                      

        Torre Syndrome                                                                                                                                       General: Multiple sebaceous gland tumors of nonglabrous skin and sceral malignancy (primar [...]

        Pallister-killian syndrome (pks; mosaic tetrasomy)                                                                          

        Pallister-Killian Syndrome (PKS; Mosaic Tetrasomy)                                                                           General: riable condition caused by a mosaic tetrasomy of chromosome 12p. Ocular: Reported manifestations includ [...]

        Myotonic dystrophy syndrome (myotonia atrophica syndrome; dystrophia myotonica; curschmann-steinert syndrome)                                                                                                            

        Myotonic Dystrophy Syndrome (Myotonia Atrophica Syndrome; Dystrophia Myotonica; Curschmann-Steinert Syndrome)                                                                                                             General: Rare autosom [...]

        B-k mole syndrome (familial atypical multiple mole melanoma syndrome; dns; dysplastic nevus syndrome)                                                                                                                                                  149

        B-K Mole Syndrome (Familial Atypical Multiple Mole Melanoma Syndrome; DNS; Dysplastic Nes Syndrome)                       &nbs [...]

        Ml ii (i-cell disease; mucolipidosis ii)                                                                                                  

        ML II (I-Cell Disease; Mucolipidosis II)                                                                                                   General: Autosomal recessi mucolipidosis is a Hurler-like disorder with some radiologic features, st [...]

        Sleep apnea (obstructive sleep apnea)                                                                                                1

        Sleep Apnea (Obstructi Sleep Apnea)                                                                                                1 General: Interruption of normal breathing during sleep secondary to airway obstruction; life threatening. [...]

        Diencephalic syndrome (diencephalic epilepsy syndrome; autonomic epilepsy syndrome; penfield syndrome; anterior diencephalic autonomic epilepsy syndrome)                                                     367

        Diencephalic Syndrome (Diencephalic Epilepsy Syndrome; Autonomic Epilepsy Syndrome; Penfield Syndrome; Anterior Diencephalic Autonomic Epilepsy Syndrome)              &nb [...]

        Vitreocorneal touch syndrome                                                                                                             1

        Vitreocorneal Touch Syndrome                                                                                                             1 General: After cataract extraction, treous bulges through the pupillary space, coming in contact with [...]

        Xxxxx syndrome (penta x syndrome)                                                                                              1

        XXXXX Syndrome (penta X Syndrome)                                                                                              1 General: Congenital syndrome due to aneuploidy. Ocular: Epicanthal folds; hypertelorism; antimongoloid (upward [...]

        Pancreatitis                                                                                                                                                

        Pancreatitis                                                                                                                                                 General: Inflammation of pancreas. Ocular: Xerosis; night blindness; multiple bran [...]

        Epiphyseal dysplasia, multiple, with myopia and conductive deafness                                            

        Epiphyseal Dysplasia, Multiple, with Myopia and Conducti Deafness                                             General: Autosomal dominant; onset early adulthood of sere osteoarthritis of hips; deficiency of distal tibial ossification se [...]

        Kussmaul disease (kussmaul-maier disease; necrotizing angiitis; pan; periarteritis nodosa; polyarteritis nodosa)                                                                                                                                

        Kussmaul Disease (Kussmaul-Maier Disease; Necrotizing Angiitis; PAN; Periarteritis Nodosa; Polyarteritis Nodosa)                                                                                                                                 [...]

        Car syndrome (cancer-associated retinopathy syndrome)                                                              196

        CAR Syndrome (Cancer-Associated Retinopathy Syndrome)                                  [...]

        Retinoblastoma                                                                                                                                        

        Retinoblastoma                                                                                                                                         General: Malignant tumor arising in one or both retinas of young children, usually under t [...]

        Nystagmus, primary hereditary (congenital nystagmus)                                                                     8

        Nystagmus, Primary Hereditary (Congenital Nystagmus)                                                                     8 General: Autosomal recessi, sex-linked or irregular dominant; may be associated with albinism. Ocular: Horizontal [...]

        Nicolau syndrome (nicolau-hoigne syndrome)                                                                                     8

        Nicolau Syndrome (Nicolau-Hoigne Syndrome)                                                                                     8 General: First described as a nonallergic reaction following injection of bismuth; assumed to be caused by emboli [...]

        Acquired lues (syphilis; acquired syphilis; lues venerea; malum venereum)

        Acquired Lues (Syphilis; Acquired Syphilis; Lues Venerea; Malum Venereum) General: Causative agent, Treponema pallidum, usually transmitted sexually. Ocular: Conjunctival chancroid; conjunctitis; keratitis; blepharitis; ptosis; iris at [...]

        Achoo syndrome

        ACHOO Syndrome (Autosomal Dominant Compelling Helio-Ophthalmic Outburst Syndrome;  Photic Sneeze Reflex; Sneezing from Light Exposure; Peroutka Sneeze)                                                                          General: Autoso [...]

        Oguchi disease                                                                                                                                          

        Oguchi Disease                                                                                                                                           General: Autosomal recessi; usually Japanese; form of congenital hemeralopia; one form [...]

        Mucocele (pyocele)                                                                                                                                    

        Mucocele (Pyocele)                                                                                                                                     General: Accumulation and retention of mucoid material within the sinus as a result of con [...]

        Tuomaala-haapanen syndrome                                                                                                            

        Tuomaala-Haapanen Syndrome                                                                                                             General: Unknown etiology; features similar to pseudohypoparathyroidism. Ocular: Antimongoloid lid fissu [...]

        Schaumann syndrome (besnier-boeck-schaumann syndrome; boeck sarcoid; sarcoidosis)        1

        Schaumann Syndrome (Besnier-Boeck-Schaumann Syndrome; Boeck Sarcoid; Sarcoidosis)        1 General: Etiology unknown; theories include tuberculosis, hypersensitity to pine pollen, rus infection; affects blacks most often; chronic course [...]

        Mulvihill-smith syndrome                                                                                                                       

        Mulvihill-Smith Syndrome                                                                                                                        General: Progeroid disorder. Ocular: Keratoconus; conjunctivitis. Clinical: Patients ha sh [...]

        Dental-ocular-cutaneous syndrome                                                                                                       358

        Dental-Ocular-Cutaneous Syndrome                                    &n [...]

        Ophthalmoplegia, familial static                                                                                                             

        Ophthalmoplegia, Familial Static                                                                                                              General: Autosomal dominant; forms include internal, external, and total ophthalmoplegia. Ocular [...]

        Herpes zoster                                                                                                                                            

        Herpes Zoster                                                                                                                                             General: Caused by varicella zoster virus; about 75% of cases occur in persons or age [...]

        Sylvester disease                                                                                                                                      1

        Sylster Disease                                                                                                                                      1 General: Dominant inheritance. Ocular: Optic atrophy. Clinical: Ataxia; moderate and [...]

        Roussy-cornil syndrome                                                                                                                        1

        Roussy-Cornil Syndrome                                                                                                                        1 General: Etiology unknown; sporadic hypertrophic neuropathy; onset in second to third decade of [...]

        Masquerade syndrome                                                                                                                            

        Masquerade Syndrome                                                                                                                             General: Chronic blepharoconjunctivitis due to an underlying conjunctil carcinoma. Ocular: S [...]

        Ulcerative colitis (regional enteritis; inflammatory bowel disease)                                                 1

        Ulcerati Colitis (Regional Enteritis; Inflammatory Bowel Disease)                                                 1 General: Chronic inflammatory disease of unknown etiology; both sexes affected; onset at all ages, most frequently between [...]

        Demodicosis                                                                                                                                                355

        Demodicosis                                         [...]

        Hyperammonemia i (carbamyl phosphate synthetase deficiency; hyperammonemia ii; ornithine transcarbamylase deficiency; hyperammonemia-hyperornithinemia-homocitrullinuria syndrome)

        Hyperammonemia I (Carbamyl Phosphate Synthetase Deficiency; Hyperammonemia II; Ornithine Transcarbamylase Deficiency; Hyperammonemia-Hyperornithinemia-Homocitrullinuria Syndrome) General: Hyperammonemias I and II are due to errors at or n [...]

        Acute frosted retinal periphlebitis

        Acute Frosted Retinal Periphlebitis                                                                                                                General: Etiology unknown, virus suspected; involment of ins and arteries; ins more se [...]

        Leber tapetoretinal dystrophy syndrome (amaurosis congenita; retinal aplasia; retinal abiotrophy; pigmentary retinitis with congenital amaurosis; dysgenesis neuroepithelialis retinae; alstrom-olsen syndrome)                                                                                                                                                 

        Leber Tapetoretinal Dystrophy Syndrome (Amaurosis Congenita; Retinal Aplasia; Retinal Abiotrophy; Pigmentary Retinitis with Congenital Amaurosis; Dysgenesis Neuroepithelialis Retinae; Alstrom-Olsen Syndrome)                                          [...]

        Fanconi-turler syndrome (familial ataxic diplegia; ataxic diplegia)                                               

        Fanconi-Turler Syndrome (Familial Ataxic Diplegia; Ataxic Diplegia)                                                General: Aberration of the third cranial ner (supranuclear type); ataxic diplegia is cerebellar ataxia with spastic pareses [...]

        Francois syndrome (2) (dystrophia dermachondrocornealis familiaris)                                            4

        Francois Syndrome (2) (Dystrophia Dermachondrocornealis Familiaris)                                            4 General: Autosomal recessi. Ocular: Central superficial corneal dystrophy with subepithelial opacities. Clinical: Distal [...]

        Hypertrophic cardiomyopathy syndrome                                                                                             

        Hypertrophic Cardiomyopathy Syndrome                                                                                              General: Autosomal recessi; four major findings are congenital cataracts, hypertrophic cardiomyopathy, mitoch [...]

        Congenital lues (congenital syphilis)                                                                                                     283

        Congenital Lues (Congenital Syphilis)                                   &nb [...]

        Cockayne syndrome (dwarfism with retinal atrophy and deafness; mickey mouse syndrome)   260

        Cockayne Syndrome (Dwarfism with Retinal Atrophy and Deafness; Mickey Mouse Syndrome)   260 General: Autosomal recessi; onset in second year of life; wide spectrum of symptoms and serity of the disease suggest that [...]

        Brain dysfunction syndrome (dyscontrol syndrome)                                                                           170

        Brain Dysfunction Syndrome (Dyscontrol Syndrome)                                 &nbs [...]

        Gyrate atrophy (ornithine ketoacid aminotransferase deficiency)                                                  

        Gyrate Atrophy (Ornithine Ketoacid Aminotransferase Deficiency)                                                   General: Deficiency of the enzyme ornithine aminotransferase; autosomal recessi; chronic, progressi dystrophy; responsible [...]

        Iris nevus syndrome (cogan-reese syndrome; chandler syndrome; iridocorneal endothelial syndrome; ice syndrome)                                                                                                                     

        Iris Nes Syndrome (Cogan-Reese Syndrome; Chandler Syndrome; Iridocorneal Endothelial Syndrome; ICE Syndrome)                                                                                                                      General: Us [...]

        Nematode ophthalmia syndrome (visceral larva migrans syndrome; toxocariasis)                     

        Nematode Ophthalmia Syndrome (Visceral Larva Migrans Syndrome; Toxocariasis)                      General: Usually found in children; invasion by larvae of Toxocara canis and Toxocara cati of scera and eyes; pronounced eosinophilia; as ma [...]

        Louping iii syndrome                                                                                                                              

        Louping III Syndrome                                                                                                                               General: Tick-borne disease of sheep; occurs in Britain. Ocular: Difficulty in blinking; ret [...]

        Ivic syndrome (radial ray defects, hearing impairment, internal ophthalmoplegia, thrombocytopenia)                                                                                                                                  

        IC Syndrome (Radial Ray Defects, Hearing Impairment, Internal Ophthalmoplegia, Thrombocytopenia)                                                                                                                                   General: A [...]

        Rocky mountain spotted fever                                                                                                              1

        Rocky Mountain Spotted Fer                                                                                                              1 General: Acute systemic disease caused by Rickettsia rickettsii transmitted by a wood tick or dog tick [...]

        Newcastle disease (fowlpox)                                                                                                                    8

        Newcastle Disease (Fowlpox)                                                                                                                    8 General: Acquired directly by people handling chickens (see Parinaud Oculoglandular Syndrome); se [...]

        Comedo cataract                                                                                                                                       271

        Comedo Cataract                                       & [...]

        Costen syndrome (temporomandibular joint syndrome)                                                                    306

        Costen Syndrome (Temporomandibular Joint Syndrome)                                 &n [...]

        Spider bites                                                                                                                                              

        Spider Bites                                                                                                                                               General: Venom of seral different spiders can cause systemic poisoning in humans. [...]

        Trisomy 10q syndrome (10q+ syndrome)                                                                                            

        Trisomy 10q Syndrome (10q+ Syndrome)                                                                                             General: Chromosome 10q trisomy (duplication) syndrome. Ocular: Microphthalmia; deep-set eyes; epicanthus; bil [...]

        Franceschetti disease (fundus flavimaculatus)                                                                                      4

        Franceschetti Disease (Fundus Flavimaculatus)                                                                                      4 General: Affects both sexes; onset between ages 10 and 25 years; autosomal recessi; genetic linkage analysi [...]

        Craniocervical syndrome (whiplash injury)                                                                                          310

        Craniocercal Syndrome (Whiplash Injury)                                    [...]

        Grayson-wilbrandt syndrome (reis-buecklers syndrome; corneal dystrophy of reis-buecklers)

        Grayson-Wilbrandt Syndrome (Reis-Buecklers Syndrome; Corneal Dystrophy of Reis-Buecklers) General: Onset at end of first decade; infrequent episodes of eye redness and pain; autosomal dominant trait; electron microscopy reals peculiar cur [...]

        Sanfilippo-good syndrome (heparitinuria; mucopolysaccharidosis iii; mps iii)                          1

        Sanfilippo-Good Syndrome (Heparitinuria; Mucopolysaccharidosis III; MPS III)                          1 General: Autosomal recessi; excess urinary excretion of heparitin sulfate (see Hunter Syndrome; Hurler Syndrome; Maroteaux-Lamy Syndrom [...]

        Chickenpox (varicella)                                                                                                                              236

        Chickenpox (ricella)                                       [...]

        Cataract, crystalline aculeiform or frosted                                                                                           207

        Cataract, Crystalline Aculeiform or Frosted                                  &nb [...]

        Retinal arteries, tortuosity                                                                                                                   

        Retinal Arteries, Tortuosity                                                                                                                    General: Autosomal dominant; retinal scular tortuosity is the isolated physical finding but may [...]

        Renal failure                                                                                                                                           

        Renal Failure                                                                                                                                            General: Absence of renal function. Ocular: Cotton-wool spots; retinal edema; optic di [...]

        Congenital epiblepharon inferior oblique insufficiency syndrome                                                    280

        Congenital Epiblepharon Inferior Oblique Insufficiency Syndrome                              &n [...]

        Krabbe (2) syndrome (sturge-weber-krabbe syndrome; galactocerebrosidase deficiency)          6

        Krabbe (2) Syndrome (Sturge-Weber-Krabbe Syndrome; Galactocerebrosidase Deficiency)          6 General: Etiology unknown; some evidence of irregularly dominant transmission; riant of Sturge-Weber syndrome; both sexes affected; present from [...]

        Pinta (nonvenereal treponematosis)                                                                                                       9

        Pinta (Nonnereal Treponematosis)                                                                                                       9 General: Caused by spirochete Treponema carateum; infectious; contagious; found in Mexico, Central Amer [...]

        Anton syndrome (denial-visual hallucination syndrome)

        Anton Syndrome (Denial-sual Hallucination Syndrome)                                                                         General: Cause unknown, but isolation of diencephalon from occipital lobe would be necessary to result in the featu [...]

        Acl syndrome (acromegaloid, cutis verticis gyrata, corneal leukoma syndrome)

        ACL Syndrome (Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome) General: Autosomal dominant; rare; three features include cutis rticis, associated with acromegaly and corneal leukoma; onset by age I year. Ocular: Bilateral [...]

        Von gierke disease (glycogen storage disease type i; glycogenosis type i; glucose-6- phosphatase deficiency)                                                                                                                          1

        n Gierke Disease (Glycogen Storage Disease Type I; Glycogenosis Type I; Glucose-6- Phosphatase Deficiency)                                                                                                                          1 General: [...]

        Merrf syndrome                                                                                                                                    7

        MERRF Syndrome                                                                                                                                    7 General: Associated with mitochondrial tRNA [Leu(UUR)] A3243G mutation. Ocular: Optic neurop [...]

        Niemann-pick syndrome (essential lipoid histiocytosis; sea-blue histiocytosis; sphingomyelinase deficiency)                                                                                                                                                                     8

        Niemann-Pick Syndrome (Essential Lipoid Histiocytosis; Sea-Blue Histiocytosis; Sphingomyelinase Deficiency)                                                                                                                                               [...]

        Hypovitaminosis a (xerophthalmia)                                                                                                       

        Hypotaminosis A (Xerophthalmia)                                                                                                        General: Deficient serum levels of tamin A; principal cause of infantile blindness in the world; due t [...]

        Lateral sinus thrombosis (sigmoid sinus thrombosis)                                                                       

        Lateral Sinus Thrombosis (Sigmoid Sinus Thrombosis)                                                                        General: Predominant in children; acute onset secondary to chronic otitic infections; high mortality rate without trea [...]

        Metastatic fungal endophthalmitis                                                                                                        

        Metastatic Fungal Endophthalmitis                                                                                                         General: Usually occurs in immunosuppressed or immunocompromised patients; usually asymmetrical; Candid [...]

        Orf syndrome (ecthyma infectiosum)                                                                                                 

        ORF Syndrome (Ecthyma Infectiosum)                                                                                                  General: Infectious disease; transmitted between animals; worldwide distribution; human infection from sheep. [...]

        Myxomas, spotty pigmentation, and endocrine overactivity syndrome (name syndrome)         

        Myxomas, Spotty Pigmentation, and Endocrine Overactivity Syndrome (NAME Syndrome)          General: Autosomal dominant. Ocular: Eyelid myxomas; pigmented lesions of the caruncle or conjunctil semilunar fold. Clinical: Cardiac, cutan [...]

        Hypogonadism-cataract syndrome                                                                                                        

        Hypogonadism-Cataract Syndrome                                                                                                         General: Autosomal recessi. Ocular: Cataracts. Clinical: Elevated follicle-stimulating hormone le [...]

        Bourneville syndrome (bourneville-pringle syndrome; tuberous sclerosis; epiloia)                        166

        Bournelle Syndrome (Bournelle-Pringle Syndrome; Tuberous Sclerosis; Epiloia)                        166 [...]

        Charcot-wilbrand syndrome                                                                                                                   231

        Charcot-Wilbrand Syndrome                                     &nb [...]

        Arteriosclerosis

        Arteriosclerosis General: Thickening and induration of the arterial wall; prominent in the elderly. Ocular: Increased arterial light reflex, copper/silver wire arteries; arteriovenous crossing changes; arterial caliber riation/irregular [...]

        Whipple disease (intestinal lipodystrophy)                                                                                         

        Whipple Disease (Intestinal Lipodystrophy)                                                                                          General: Multisystem disorder; prominent in males; onset between fourth and senth decades; etiology unknow [...]

        Petzetakis-takos syndrome (phlyctenular keratoconjunctivitis)                                                        

        Petzetakis-Takos Syndrome (Phlyctenular Keratoconjunctitis)                                                         General: Malnutrition; lack of hygiene. Ocular: Superficial keratitis; palpebral edema; cornea hyperesthesia; photophobi [...]

        Foveal hypoplasia and presenile cataract syndrome (o'donnell-pappas syndrome)                       4

        Foal Hypoplasia and Presenile Cataract Syndrome (O'Donnell-Pappas Syndrome)                       4 General: Autosomal dominant. Ocular: Foal hypoplasia; nystagmus; presenile cataract; peripheral corneal pannus. Clinical: None. [...]

        Hereditary ectodermal dysplasia syndrome (siemens syndrome; keratosis follicularis spinulosa syndrome; hypohidrotic ectodermal dysplasia; christ-siemens-touraine syndrome; weech syndrome; anhidrotic ectodermal dysplasia; ichthyosis follicularis)                                                 5

        Hereditary Ectodermal Dysplasia Syndrome (Siemens Syndrome; Keratosis Follicularis Spinulosa Syndrome; Hypohidrotic Ectodermal Dysplasia; Christ-Siemens-Touraine Syndrome; Weech Syndrome; Anhidrotic Ectodermal Dysplasia; Ichthyosis Follicularis)  [...]

        Heerfordt syndrome (uveoparotid fever; uveoparotitis; uveoparotitic paralysis)                            5

        Heerfordt Syndrome (Uoparotid Fer; Uoparotitis; Uoparotitic Paralysis)                            5 General: Occurs in young adults, more frequently in females than in males; usual cause is sarcoidosis. Ocular: Band keratopathy; [...]

        Corneal dystrophy, lattice type (lattice corneal dystrophy; lcd; lattice dystrophy type i; biber-haab-dimmer dystrophy)                                                                                                              299

        Corneal Dystrophy, Lattice Type (Lattice Corneal Dystrophy; LCD; Lattice Dystrophy Type I; Biber-Haab-Dimmer Dystrophy)                     [...]

        Cushing (3) syndrome (chiasmal syndrome)                                                                                         337

        Cushing (3) Syndrome (Chiasmal Syndrome)                                    [...]

        Transient light sensitivity syndrome                                                                                                    1

        Transient Light Sensitity Syndrome                                                                                                    1 General: Associated with femtosecond laser keratome; may be related to the pulse energy used in flap cre [...]

        Spongy degeneration of the white matter (canavan disease; van bogaert-bertrand syndrome)

        Spongy Degeneration of the White Matter (Canavan Disease; Van Bogaert-Bertrand Syndrome) General: Neurologic disorder of childhood; Jews; familial; autosomal recessi; this is a sere leukodystrophy caused by the deficiency of aspartoacyl [...]

        18q- syndrome (18q deletion syndrome)                                                                                               

        18q- Syndrome (18q Deletion Syndrome)                                                                                                General: Chromosome 18q deletion syndrome. Ocular: Macular 'fibrosis'; Optic disk abnormalities with tract [...]

        Falciform detachment                                                                                                                              

        Falciform Detachment                                                                                                                               General: Autosomal dominant or recessi; preperinatally acquired; characterized by ocular sig [...]

        Nothnagel syndrome (ophthalmoplegia-cerebellar ataxia syndrome)                                              8

        Nothnagel Syndrome (Ophthalmoplegia-Cerebellar Ataxia Syndrome)                                              8 General: Lesion of superior cerebellar peduncle, red nucleus, and emerging oculomotor fibers, such as pineal tumor, or tumor or [...]

        Nephrotic syndrome (lipoid nephrosis; idiopathic nephrotic syndrome; epstein syndrome)      

        Nephrotic Syndrome (Lipoid Nephrosis; Idiopathic Nephrotic Syndrome; Epstein Syndrome)       General: Unknown etiology, although some connection seems to exist between use of various drugs (penicillamine, hea metals, trimethadione) and ce [...]

        Nystagmus blockage syndrome (nbs)                                                                                                    8

        Nystagmus Blockage Syndrome (NBS)                                                                                                    8 General: Congenital (see Ethan Syndrome, Primary; Ethan Syndrome Secondary; Nystagmus Compensation Syndrome [...]

        Zinsser-engman-cole syndrome (dyskeratosis congenita with pigmentation; cole-rauschkolb- toomey syndrome)                                                                                                                                 

        Zinsser-Engman-Cole Syndrome (Dyskeratosis Congenita with Pigmentation; Cole-Rauschkolb- Toomey Syndrome)                                                                                                                                  Gener [...]

        Dejerine-klumpke syndrome (lower radicular syndrome; klumpke syndrome; klumpke paralysis)       351

        Dejerine-Klumpke Syndrome (Lower Radicular Syndrome; Klumpke Syndrome; Klumpke Paralysis)       351 General: Lesion involving the inferior roots of the brachial plexus with ners derid from the ei [...]

        Sands of the sahara syndrome (diffuse lamellar keratitis)                                                              1

        Sands of the Sahara Syndrome (Diffuse Lamellar Keratitis)                                                              1 General: Interface inflammation after laser in situ keratomileusis (LASIK). Ocular: Interface inflammation after LASI [...]

        Pseudophakic pigment dispersion syndrome                                                                                      

        Pseudophakic Pigment Dispersion Syndrome                                                                                       General: Caused by rubbing of peripheral iris on lens zonules with iris e and posterior chamber lenses. Ocular: [...]

        Pemphigus vulgaris                                                                                                                                  

        Pemphigus Vulgaris                                                                                                                                   General: Primarily in middle-aged people; prognosis ries, from poor to chronic; generalize [...]

        Ophthalmoplegic retinal degeneration syndrome (barnard-scholz syndrome)                               

        Ophthalmoplegic Retinal Degeneration Syndrome (Barnard-Scholz Syndrome)                                General: Onset at all ages (see Kearns-Sayre Syndrome). Ocular: Unilateral or bilateral progressi weakness of muscles of eyelids, u [...]

        Koby syndrome (floriform cataract)                                                                                                     6

        Koby Syndrome (Floriform Cataract)                                                                                                     6 General: Autosomal dominant; both sexes affected. Ocular: Multiple opacities of different shapes (annul [...]

        Oral-facial-digital syndrome (ofds)                                                                                                    

        Oral-Facial-Digital Syndrome (OFDS)                                                                                                     General: Group of syndromes characterized by congenital anomalies of the oral caty, face, and digits; s [...]

        Shy-drager syndrome (orthostatic hypotension syndrome; shy-megee-drager syndrome)       1

        Shy-Drager Syndrome (Orthostatic Hypotension Syndrome; Shy-MeGee-Drager Syndrome)       1 General: Etiology unknown; gradual onset; adults; progressive degeneration of the nerus system. Ocular: External ophthalmoplegia; iris atrophy; oc [...]

        Papilloma (wart; verruca)                                                                                                                      

        Papilloma (Wart; Verruca)                                                                                                                       General: Cutaneous or mucosal tumor of proliferating epithelial and fibrovascular tissues; ral [...]

        Plateau iris syndrome                                                                                                                               9

        Plateau Iris Syndrome                                                                                                                               9 General: Rare; occurs in younger age group; presumably due in part to an anterior insertion [...]

        Lymphoid hyperplasia (reactive lymphoid hyperplasia; lymphoid tumors; malignant lymphoma; pseudolymphoma; pseudotumor; burkitt lymphoma; neoplastic angioendotheliomatosis)           

        Lymphoid Hyperplasia (Reacti Lymphoid Hyperplasia; Lymphoid Tumors; Malignant Lymphoma; Pseudolymphoma; Pseudotumor; Burkitt Lymphoma; Neoplastic Angioendotheliomatosis)            General: Occurs in tropical Africa; young children; idio [...]

        Aniridia, partial with unilateral renal agenesis and psychomotor retardation

        Aniridia, Partial with Unilateral Renal Agenesis and Psychomotor Retardation General: Autosomal recessi. Ocular: Congenital glaucoma; telecanthus; absence of iris; hypertelorism. Clinical: One kidney absent or in failure; motor effect [...]

        Pemphigus foliaceus (cazenave disease)                                                                                               

        Pemphigus Foliaceus (Cazenave Disease)                                                                                                General: Attacks indiduals of any race, age, or sex; high incidence in Brazil; characterized by bullous s [...]

        Caffey syndrome (caffey-silverman syndrome; infantile cortical hyperostosis)                             185

        Caffey Syndrome (Caffey-Silrman Syndrome; Infantile Cortical Hyperostosis)                             [...]

        Colobomatous, microphthalmia and microcornea syndrome                                                              268

        Colobomatous, Microphthalmia and Microcornea Syndrome                                  [...]

        Thomsen syndrome (congenital myotonia syndrome; myotonia congenita)                                 

        Thomsen Syndrome (Congenital Myotonia Syndrome; Myotonia Congenita)                                  General: Dominant; inheritance manifestations before age 5 years; prevalent in males; possibly caused by excessi production of acetylchol [...]

        Xeroderma pigmentosum                                                                                                                       

        Xeroderma Pigmentosum                                                                                                                        General: Rare autosomal recessive disorder characterized by extreme cutaneous photosensitity; both [...]

        Dermatophytosis (epidermophytosis; epidermomycosis; rubrophytia; tinea; trichophytosis)      360

        Dermatophytosis (Epidermophytosis; Epidermomycosis; Rubrophytia; Tinea; Trichophytosis)      360 General: Superficial infection of the skin; ringworm fungi; most frequently seen in children during hot, hu [...]

        Cysticercosis                                                                                                                                               340

        Cysticercosis                                       &nb [...]

        Hypocalcemia                                                                                                                                            

        Hypocalcemia                                                                                                                                             General: Serum calcium lel depressed; secondary hypocalcemia can result following fosc [...]

        Optic atrophy, non-leber-type, with early onset                                                                              

        Optic Atrophy, Non-Leber-Type, with Early Onset                                                                               General: Sex-linked; onset early in life. Ocular: Optic atrophy. Clinical: Mental retardation; hyperacti kne [...]

        Atopic dermatitis (atopic eczema; besnier prurigo)

        Atopic Dermatitis (Atopic Eczema; Besnier Prurigo) General: Highly specific disease resulting from a heredity determined lowered cutaneous threshold to pruritus and characterized by intense itching; eleted total and specific immunoglobulin [...]

        Benign mucosal pemphigoid (chronic cicatricial conjunctivitis; cicatricial pemphigoid; essential shrinkage of the conjunctiva; membrane pemphigus; ocularpemphigoid)                                                         137

        Benign Mucosal Pemphigoid (Chronic Cicatricial Conjunctivitis; Cicatricial Pemphigoid; Essential Shrinkage of the Conjuncti; Membrane Pemphigus; Ocularpemphigoid)             [...]

        Gansslen syndrome (familial hemolytic icterus; hematologic-metabolic bone disorder)               

        Gansslen Syndrome (Familial Hemolytic Icterus; Hematologic-Meolic Bone Disorder)                General: Autosomal dominant inheritance; occurs mainly in Caucasians. Ocular: Hypertelorism; microphthalmos; epicanthus; narrowing of palpe [...]

        Neonatal hemolytic disease of hyperbilirubinemia (kernicterus; bilirubin encephalopathy)        

        Neonatal Hemolytic Disease of Hyperbilirubinemia (Kernicterus; Bilirubin Encephalopathy)         General: Condition with sere neural symptoms associated with high lels of bilirubin in the blood. Ocular: Disturbance of supranuclear [...]

        Mycosis fungoides syndrome (sézary syndrome; malignant cutaneous reticulosis syndrome)    

        Mycosis Fungoides Syndrome (Sézary Syndrome; Malignant Cutaneous Reticulosis Syndrome)     General: Lymphoma characterized by abnormal lymphocytes having hyperchromatic, hyperconluted nuclei; malignant, cutaneous T-cell lymphoma, which in [...]

        Porphyria cutanea tarda                                                                                                                     

        Porphyria Cutanea Tarda                                                                                                                      General: Disorder of porphyria meolism; highest incidence in Bantu population; both sexes affecte [...]

        Espildora-luque syndrome (ophthalmic sylvian syndrome)                                                             

        Espildora-Luque Syndrome (Ophthalmic Sylan Syndrome)                                                              General: Embolism of the ophthalmic artery with refectory spasm of the middle cerebral artery. Ocular: Unilateral blindnes [...]

        Hemangioma                                                                                                                                               5

        Hemangioma                                                                                                                                               5 General: Can occur throughout the body, but particularly in the head; primary intraosseo [...]

        Retinitis pigmentosa, deafness, mental retardation, and hypogonadism                                        

        Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism                                         General: Autosomal recessi; similar to Laurence-Moon-Biedl-Bardet, Alstrom, and Usher syndromes, with the difference being the ab [...]

        Kyrle disease (hyperkeratosis follicularis and parafollicularis in cutem penetrans; hyperkeratosis penetrans)                                                                                                                                                  

        Kyrle Disease (Hyperkeratosis Follicularis and Parafollicularis in Cutem Penetrans; Hyperkeratosis Penetrans)                                                                                                                                             [...]

        Henoch-schönlein purpura (purpura; anaphylactoid purpura)                                                         5

        Henoch-Schönlein Purpura (Purpura; Anaphylactoid Purpura)                                                         5 General: Occurs chiefly in children, although it can affect persons of any age; frequently follows an upper respiratory tract [...]

        Myasthenia gravis, neonatal or infantile (infantile myasthenia gravis; neonatal myasthenia gravis)       

        Myasthenia Gravis, Neonatal or Infantile (Infantile Myasthenia Gravis; Neonatal Myasthenia Gravis)        General: Occurs in newborn of myasthenic mother; caused by compound in circulation receid through placenta (see Erb-Goldflam Syndrom [...]

        Glaucoma, goniodysgenesis (dysgenic glaucoma; steroid glaucoma)                                              

        Glaucoma, Goniodysgenesis (Dysgenic Glaucoma; Steroid Glaucoma)                                               General: Autosomal dominant; use of topical dexamethasone under the two-allele system; three genotypes; high, intermediate, and lo [...]

        Oliver-mcfarlane syndrome (trichomegaly syndrome)                                                                      

        Olir-McFarlane Syndrome (Trichomegaly Syndrome)                                                                       General: Rare syndrome. Ocular: Trichomegaly; pigmentary retinal degeneration. Clinical: Prenatal onset growth failu [...]

        Gelineau syndrome (narcoleptic syndrome)                                                                                         

        Gelineau Syndrome (Narcoleptic Syndrome)                                                                                          General: Etiology not well understood; causes include subthalamic lesions, multiple sclerosis, and tumor of [...]

        Trichinellosis (trichinosis)                                                                                                                     

        Trichinellosis (Trichinosis)                                                                                                                      General: Parasite Trichinella enters the body by ingestion of infected meat (usually poorly coo [...]

        3p-syndrome (3p deletion syndrome)                                                                                                  

        3p-Syndrome (3p Deletion Syndrome)                                                                                                   General: Chromosome 3p deletion syndrome. Ocular: Blepharoptosis, telecanthus, mongoloid (down-slanting) p [...]

        Pallidal degeneration, progressive, with retinitis pigmentosa (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; harp syndrome)                       

        Pallidal Degeneration, Progressi, with Retinitis Pigmentosa (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration; HARP Syndrome)                        General: Autosomal recessi; destruction of [...]

        Diffuse keratoses syndrome                                                                                                                    368

        Diffuse Keratoses Syndrome                                     &n [...]

        Von reuss syndrome (galactosemic syndrome; galactokinase deficiency; galactosemia)            1

        Von Reuss Syndrome (Galactosemic Syndrome; Galactokinase Deficiency; Galactosemia)            1 General: Autosomal recessi; consanguinity; conrsion of galactose into glucose is blocked, leading to galactosemia; onset after a few days or [...]

        Loffler syndrome (eosinophilic pneumonitis)                                                                                       

        Loffler Syndrome (Eosinophilic Pneumonitis)                                                                                        General: Etiology unknown, but such considerations as drug hypersensitity, parasites, mycoses, and periarter [...]

        Pisk (pressure induced intralamellar stromal keratitis)                                                                     9

        PISK (Pressure Induced Intralamellar Stromal Keratitis)                                                                     9 General: Associated with LASIK post operative patients Ocular: Elevated IOP; ocular discomfort; blurred sion; [...]

        Curtius syndrome (ectodermal dysplasia with ocular malformations)                                              334

        Curtius Syndrome (Ectodermal Dysplasia with Ocular Malformations)                               [...]

        Liposarcoma                                                                                                                                              

        Liposarcoma                                                                                                                                               General: Aggressi malignant neoplasms of lipogenic cells; occurs at any age, but rare [...]

        Woody-ghadimi syndrome (ghadimi-woody syndrome; hyperlysinemia, persistent)                  1

        Woody-Ghadimi Syndrome (Ghadimi-Woody Syndrome; Hyperlysinemia, Persistent)                  1 General: Inherited probably autosomal dominant; affects both sexes; age of detection from infancy to early adulthood. Ocular: Strabismus; ectop [...]

        Giant fornix syndrome                                                                                                                           

        Giant Fornix Syndrome                                                                                                                            General: Enlarged upper fornix with buildup of mucopurulent debri and persistant discharge. O [...]

        Apert syndrome

        Apert Syndrome (Acrocephalosyndactylism Syndrome; Acrocranio-dysphalangia; Acrodysplasia; Sphenoacrocranio-syndactyly; Absent-Digits-Cranial-Defects Syndrome)                                                General: Inherited; most often rec [...]

        Optic pit syndrome                                                                                                                                   

        Optic Pit Syndrome                                                                                                                                    General: Congenital. Ocular: Serous detachment of macula; situs inrsus; peripapillary [...]

        Gitelman syndrome                                                                                                                                  

        Gitelman Syndrome                                                                                                                                   General: Autosomal recessi, renal tubulopathy characterized by hypokalemia, hypomagnesemia, [...]

        Onchocerciasis syndrome (river blindness; onchocerca volvulus infestation)                                

        Onchocerciasis Syndrome (Rir Blindness; Onchocerca Volvulus Infestation)                                 General: Nematode infestation; positi diagnosis made with microfilariae from a skin biopsy and the presence of microfilariae in ant [...]

        Seborrheic dermatitis                                                                                                                              1

        Seborrheic Dermatitis                                                                                                                              1 General: Genetically determined structural and functional abnormality of the skin that produc [...]

        Electrical injury                                                                                                                                        

        Electrical Injury                                                                                                                                         General: Electric current passes through the body; ltage ranging from 100 to 200 mill [...]

        Progressive foveal dystrophy (central retinal pigment epithelial dystrophy)                              

        Progressi Foal Dystrophy (Central Retinal Pigment Epithelial Dystrophy)                               General: Autosomal dominant; onset late in the first decade of life. Ocular: Progressi foal dystrophy; pigmentary changes and dr [...]

        Anoxic overwear syndrome

        Anoxic Orwear Syndrome                                                                                                                           General: Caused by a reduction in oxygen supply due to continuously worn hydrogel lenses; alle [...]

        Oliver-mcfarlane syndrome (trichomegaly syndrome)                                                                      

        Olir-McFarlane Syndrome (Trichomegaly Syndrome)                                                                       General: Rare syndrome. Ocular: Trichomegaly; pigmentary retinal degeneration. Clinical: Prenatal onset growth failu [...]

        Granuloma venereum                                                                                                                              

        Granuloma Venereum                                                                                                                               General: Dononia granulomatis; infective venereal disease; prelent in black women; Chlamydia [...]

        Cerebellar ataxia, cataract, deafness, and dementia or psychosis (heredopathia ophthalmo-oto-encephalica)                                                                                                                                               219

        Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis (Heredopathia Ophthalmo-Oto-Encephalica)                        [...]

        Yellow fever                                                                                                                                            

        Yellow Fer                                                                                                                                             General: Acute infectious disease of short duration and extremely variable serity. [...]

        Juvenile diabetes-dwarfism-obesity syndrome (mauriac syndrome; dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome)                                                                                                                    6

        Junile Diabetes-Dwarfism-Obesity Syndrome (Mauriac Syndrome; Dwarfism-Hepatomegaly-Obesity-Junile Diabetes Syndrome)                                                                                                                    6 Gene [...]

        Ankyloblepharon filiforme adnatum and cleft palate

        Ankyloblepharon Filiforme Adnatum and Cleft Palate (Hay-Wells Syndrome; AEC Syndrome) General: Autosomal dominant; cleft palate and/or cleft lip; congenital filiform fusion of eyelids. Ocular: Filiform fusion of eyelids; pterygium; kerato [...]

        Millard-gubler syndrome (abducens-facial hemiplegia alternans)                                                  

        Millard-Gubler Syndrome (Abducens-Facial Hemiplegia Alternans)                                                   General: Vascular, infectious, or tumorous lesion at the base of the pons affecting the nuclei of the sixth and senth ners [...]

        Visual paraneoplastic syndrome                                                                                                            1

        Visual Paraneoplastic Syndrome                                                                                                            1 General: Loss of sual acuity and loss of sual field due to malignant disease without metastasis to [...]

        Klüver-bucy syndrome (temporal lobectomy behavior syndrome)                                                

        Klüver-Bucy Syndrome (Temporal Lobectomy Behaor Syndrome)                                                 General: Occurs after temporal lobectomy, carried out therapeutically for temporal lobe epilepsy. Ocular: 'Psychic blindness' or [...]

        Mycosis fungoides syndrome (sézary syndrome; malignant cutaneous reticulosis syndrome)    

        Mycosis Fungoides Syndrome (Sézary Syndrome; Malignant Cutaneous Reticulosis Syndrome)     General: Lymphoma characterized by abnormal lymphocytes having hyperchromatic, hyperconluted nuclei; malignant, cutaneous T-cell lymphoma, which in [...]

        Triploidy syndrome                                                                                                                                

        Triploidy Syndrome                                                                                                                                 General: Extra set of chromosomes due to diandry or digyny; stillbirth or early neonatal death [...]

        Arnold pick syndrome

        Arnold Pick Syndrome (Aphasia-Agnosia-Apraxia Syndrome; Pick Syndrome [2]; Pick Disease of the Brain) General: Widespread cortical atrophy; manifested between 40 and 70 years; pathogenesis remains unknown; cannot be consistently differentiat [...]

        Wildervanck syndrome (cervicooculoacousticus syndrome; franceschetti-klein- wildervanck syndrome; wildervanck-waardenburg syndrome; cervicooculofacial dysmorphia; cervicooculofacial syndrome)                                                                                                               

        Wildervanck Syndrome (Cercooculoacousticus Syndrome; Franceschetti-Klein- Wildervanck Syndrome; Wildervanck-Waardenburg Syndrome; Cercooculofacial Dysmorphia; Cercooculofacial Syndrome)                                                       [...]

        13q-syndrome (13q deletion syndrome)                                                                                               1

        13q-Syndrome (13q Deletion Syndrome)                                                                                               1 General: Chromosome 13q deletion syndrome. Ocular: Retinoblastoma; telecanthus; hypertelorism; optic ner [...]

        Myxomas, spotty pigmentation, and endocrine overactivity syndrome (name syndrome)         

        Myxomas, Spotty Pigmentation, and Endocrine Overactivity Syndrome (NAME Syndrome)          General: Autosomal dominant. Ocular: Eyelid myxomas; pigmented lesions of the caruncle or conjunctil semilunar fold. Clinical: Cardiac, cutan [...]

        Lymphocytic choriomeningitis (aseptic meningitis)                                                                             

        Lymphocytic Choriomeningitis (Aseptic Meningitis)                                                                              General: rus of which natural host is house mouse; more common in late fall and winter; usually benign. Ocula [...]

        Congenital hereditary retinoschisis (chrs; juvenile x-linked retinoschisis)                                 282

        Congenital Hereditary Retinoschisis (CHRS; Junile X-Linked Retinoschisis)                            &n [...]

        Ota syndrome (nevus of ota; oculodermal melanocytosis; nevus fuscoceruleus-ophthalmomaxillaris syndrome)                                                                                                                                                 

        Ota Syndrome (Nes of Ota; Oculodermal Melanocytosis; Nes Fuscoceruleus-Ophthalmomaxillaris Syndrome)                                                                                                                                                  [...]

        Buerger disease (thromboangiitis obliterans)                                                                                       181

        Buerger Disease (Thromboangiitis Obliterans)                                  &n [...]

        Alopecia areata

        Alopecia Areata                                                                                                                                                General: Unknown etiology; increased incidence of autoimmune disease, Addison dise [...]

        Ohaha syndrome (ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis)                          

        OHAHA Syndrome (Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, Athetosis)                           General: Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis (OHARA) are distinguishing symptoms; sudden onset of deafness at an age [...]

        Marshall-smith syndrome                                                                                                                        7

        Marshall-Smith Syndrome                                                                                                                        7 General: Rare congenital condition with advanced bone age, facial anomalies, and relati failure [...]

        Noonan syndrome (male turner syndrome)                                                                                         8

        Noonan Syndrome (Male Turner Syndrome)                                                                                         8 General: Similar to Turner syndrome, but with normal chromosomal analysis; X-linked dominant inheritance; X-linke [...]

        Spasmus nutans syndrome                                                                                                                   

        Spasmus Nutans Syndrome                                                                                                                    General: Etiology unknown; both sexes affected; onset between ages 6 and 18 months; disappears during [...]

        Neurocutaneous syndrome                                                                                                                      

        Neurocutaneous Syndrome                                                                                                                       General: Triad of linear nes sebaceous; seizures; mental retardation. Ocular: Colobomas of irid [...]

        Strumpell-leichtenstern syndrome (acute hemorrhagic encephalitis)                                             1

        Strumpell-Leichtenstern Syndrome (Acute Hemorrhagic Encephalitis)                                             1 General: Etiology viral, postccinal, drug-induced, or allergic; both sexes affected; onset at all ages but prelent in childre [...]

        Ischemic orbital compartment syndrome                                                                                             

        Ischemic Orbital tment Syndrome                                                                                              General: Associated with spine surgery in the prone position Ocular: Proptosis; eleted intraocular pressu [...]

        Spinocerebellar atrophy with pupillary paralysis                                                                               

        Spinocerebellar Atrophy with Pupillary Paralysis                                                                                General: Autosomal dominant; rare. Ocular: Absence of pupillary reaction to light or conrgence. Clinical: [...]

        Rift valley fever                                                                                                                                     

        Rift Valley Fever                                                                                                                                      General: Acute ral infection transmitted by mosquito that occurs in regions of Africa. [...]

        Strachan syndrome (tropical nutritional neuropathy)                                                                     

        Strachan Syndrome (Tropical Nutritional Neuropathy)                                                                      General: Possibly nutritional tamin A deficiency, chronic cyanide poisoning, and/or infectious agents. Ocular: Opti [...]

        Larsen syndrome                                                                                                                                      

        Larsen Syndrome                                                                                                                                       General: Etiology unknown; autosomal recessi; possibly dominant in some cases. Ocular: [...]

        Fish-eye disease (corneal opacities-dyslipoproteinemia)                                                                    

        Fish-Eye Disease (Corneal Opacities-Dyslipoproteinemia)                                                                     General: Etiology unknown; rare; described in Swedish family; currently considered a unique dyslipoproteinemia. O [...]

        Vogt-koyanagi-harada disease (harada disease; uveitis-vitiligo-alopecia-poliosis syndrome)    1

        Vogt-Koyanagi-Harada Disease (Harada Disease; Uveitis-Vitiligo-Alopecia-Poliosis Syndrome)    1 General: Viral infection; occurs predominantly among Italian and Japanese indiduals; young adults; chronic. Ocular: White lashes; secondary [...]

        Disseminated intravascular coagulation                                                                                                 373

        Disseminated Intrascular Coagulation                                   &n [...]

        String syndrome                                                                                                                                      1

        String Syndrome                                                                                                                                      1 General: Following encircling operations or circular diathermy, chemosis, and excess protei [...]

        Acute retinal necrosis syndrome (arn syndrome; bilateral acute retinal necrosis; barn syndrome)

        Acute Retinal Necrosis Syndrome (ARN Syndrome; Bilateral Acute Retinal Necrosis;  Barn Syndrome)     General: Evidence of association with herpes-type deoxyribonucleic acid (DNA) virus; occurs both unilaterally and bilaterally; includes r [...]

        Lockjaw (tetanus)                                                                                                                                    

        Lockjaw (Tetanus)                                                                                                                                     General: Acute infectious disease affecting nervous system; causati agent is Clostridium [...]

        Kiloh-nevin syndrome (muscular dystrophy of external ocular muscles; ocular myopathy)      

        Kiloh-Nen Syndrome (Muscular Dystrophy of External Ocular Muscles; Ocular Myopathy)       General: Etiology unknown; autosomal dominant. Ocular: Ptosis; orbicularis muscle weakness; ocular myopathy; diplopia progressing to bilateral my [...]

        Parkinson syndrome (paralysis agitans; shaking palsy)                                                                     

        Parkinson Syndrome (Paralysis Agitans; Shaking Palsy)                                                                      General: Late stages of epidemic encephalitis; present with arteriosclerosis and with manganese and carbon monoxide po [...]

        Gray iris syndrome                                                                                                                                  

        Gray Iris Syndrome                                                                                                                                   General: Excessi trauma of iris at time of lens imtation with loss of posterior iris pigme [...]

        Hurler-scheie syndrome (mps i h/s)                                                                                                     5

        Hurler-Scheie Syndrome (MPS I H/S)                                                                                                     5 General: Clinical disorder with serity midway between the Hurler and Scheie syndromes; genetic compound [...]

        Granuloma faciale                                                                                                                                   

        Granuloma Faciale                                                                                                                                    General: Uncommon disease; etiology unknown; characterized by single or multiple cutaneous n [...]

        Epiphyseal dysplasia of femoral heads, myopia, deafness                                                                 

        Epiphyseal Dysplasia of Femoral Heads, Myopia, Deafness                                                                  General: Autosomal recessi. Ocular: Sere myopia. Clinical: Femoral epiphyseal dysplasia; deafness. McKusick [...]

        Pallidal degeneration, progressive, with retinitis pigmentosa (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; harp syndrome)                       

        Pallidal Degeneration, Progressi, with Retinitis Pigmentosa (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration; HARP Syndrome)                        General: Autosomal recessi; destruction of [...]

        Ocular myopathy with curare sensitivity                                                                                              

        Ocular Myopathy with Curare Sensitity                                                                                               General: Autosomal recessive. Ocular: Static ophthalmoparesis. Clinical: Limb weakness; sensitity to [...]

        3b translocation syndrome                                                                                                                  

        3B Translocation Syndrome                                                                                                                   General: Chromosomal anomaly transmitted by the female but not the male carrier. Ocular: Iris colob [...]

        Francois (1) dystrophy (francois-neetens syndrome; central cloudy dystrophy; cloudy central corneal dystrophy)                                                                                                                                  

        Francois (1) Dystrophy (Francois-Neetens Syndrome; Central Cloudy Dystrophy; Cloudy Central Corneal Dystrophy)                                                                                                                                   [...]

        Anterior segment ischemia syndrome

        Anterior Segment Ischemia Syndrome                                                                                                          General: Occasional complication of strabismus surgery; usually occurs in adult patients who ha par [...]

        Ophthalmoplegia, progressive external                                                                                                  

        Ophthalmoplegia, Progressi External                                                                                                   General: Autosomal recessi; progressi limitation of ocular motility with clinical sparing of pupillar [...]

        Usher syndrome (hereditary retinitis pigmentosa-deafness syndrome)                                         

        Usher Syndrome (Hereditary Retinitis Pigmentosa-Deafness Syndrome)                                          General: Retinitis pigmentosa associated with deaf-mutism; dominantly inherited; anatomic and meolic condition; onset unknown (se [...]

        Lymphogranuloma venereum (nicolas-favre disease; tropical bubo lgv; lymphogranuloma inguinale)                                                                                                                                                   

        Lymphogranuloma Venereum (Nicolas-Favre Disease; Tropical Bubo LG Lymphogranuloma Inguinale)                                                                                                                                                    [...]

        Trisomy 17p syndrome                                                                                                                           1

        Trisomy 17p Syndrome                                                                                                                           1 General: Trisomy 17p duplication syndrome. Ocular: Hypertelorism, antimongoloid (up-slanting) p [...]

        Jones syndrome (cherubism; mandibular cystic dysplasia)                                                              

        Jones Syndrome (Cherubism; Mandibular Cystic Dysplasia)                                                               General: Etiology unknown; both sexes affected; present at birth. Ocular: White line beneath the iris on sclera; hyper [...]

        Urbach-wiethe syndrome (rossle-urbach-wiethe syndrome; lipoproteinosis; hyalinosis cutis et mucosae; lipoid proteinosis; proteinosis-lipoidosis)                                                                          

        Urbach-Wiethe Syndrome (Rossle-Urbach-Wiethe Syndrome; Lipoproteinosis; Hyalinosis Cutis et Mucosae; Lipoid Proteinosis; Proteinosis-Lipoidosis)                                                                           General: Rare autoso [...]

        Cataract and congenital ichthyosis                                                                                                         204

        Cataract and Congenital Ichthyosis                                     [...]

        Congenital cataract and hypertrophic cardiomyopathy syndrome                                                   275

        Congenital Cataract and Hypertrophic Cardiomyopathy Syndrome                                [...]

        Reimann syndrome (hyperviscosity syndrome)                                                                                 

        Reimann Syndrome (Hyperscosity Syndrome)                                                                                  General: Frequently found in association with Waldenström syndrome, other hyperglob-ulinemias, and occasionally with [...]

        Eyebrow whorl                                                                                                                                         

        Eyebrow Whorl                                                                                                                                          General: Autosomal dominant. Ocular: Whorl in the hair of the eyebrow; myopia, teleca [...]

        Poststreptococal uveitis syndrome                                                                                                        

        Poststreptococal Uitis Syndrome                                                                                                         General: Associated with bilateral nongranulomatous ocular inflammation; seen in individuals or 40 ye [...]

        Retinoschisis, congenital                                                                                                                        

        Retinoschisis, Congenital                                                                                                                         General: X-linked recessi; nearly always found in males. Ocular: Retinal splitting usually [...]

        Banti disease (chronic congestive splenomegaly; fibrocongestive splenomegaly; splenic anemia; hepatolienal fibrosis)

        Banti Disease (Chronic Congesti Splenomegaly; Fibrocongesti Splenomegaly; Splenic Anemia; Hepatolienal Fibrosis) General: Etiology portal hypertension due to thrombosis, compression, or aneurysm; insidious or sudden onset; most frequentl [...]

        Micropsia syndrome (lilliputian syndrome)                                                                                         

        Micropsia Syndrome (Lilliputian Syndrome)                                                                                          General: Psychosensory illusion produced by rious mental derangements such as acute infections, alcoholism, [...]

        Franceschetti syndrome (franceschetti-zwahlen-k1ein syndrome; treacher collins syndrome; mandibulofacial dysostosis; mandibulofacial syndrome; eyelid-malar-mandible syndrome; oculovertebral syndrome; berry syndrome; franceschetti-zwahlen syndrome; zwahlen syndrome; bilateral facial agenesis; berry-franceschetti-k1ein syndrome; franceschetti-k1ein syndrome; franceschetti syndrome (ii); treacher collins-franceschetti syndrome; weyers-thier syndrome)                      4

        Franceschetti Syndrome (Franceschetti-Zwahlen-K1ein Syndrome; Treacher Collins Syndrome; Mandibulofacial Dysostosis; Mandibulofacial Syndrome; Eyelid-Malar-Mandible Syndrome; Oculortebral Syndrome; Berry Syndrome; Franceschetti-Zwahlen Syndrome [...]

        Addison pernicious anemia syndrome (pernicious anemia syndrome; vitamin b12 deficiency anemia; macrocytic anemia; biermer syndrome)

        Addison Pernicious Anemia Syndrome (Pernicious Anemia Syndrome; tamin B12 Deficiency  Anemia; Macrocytic Anemia; Biermer Syndrome) General: Autosomal dominant; female preponderance; onset between ages 30 and 50 years; lack of intrinsic fa [...]

        Marinesco-sjögren syndrome (congenital spinocerebellar ataxia- congenital cataract-oligophrenia syndrome)                                                                                                                                                  7

        Marinesco-Sjögren Syndrome (Congenital Spinocerebellar Ataxia- Congenital Cataract-Oligophrenia Syndrome)                                                                                                                                                 [...]

        Pituitary necrosis syndrome (postpartum hypopituitarism syndrome; sheehan syndrome; simmonds-sheehan syndrome)                                                                                                                9

        Pituitary Necrosis Syndrome (Postpartum Hypopituitarism Syndrome; Sheehan Syndrome; Simmonds-Sheehan Syndrome)                                                                                                                9 General: Etiolog [...]

        Pruritus                                                                                                                                                    

        Pruritus                                                                                                                                                     General: Unpleasant sensation perceid in the skin that elicits the response of scr [...]

        Ophthalmopathic syndrome (thyrohypophysial syndrome)                                                               

        Ophthalmopathic Syndrome (Thyrohypophysial Syndrome)                                                                General: Exophthalmos, usually bilateral; pituitary hypersecretion or enhanced tissue sensitity to exophthalmos-producing f [...]

        Peroneal muscular atrophy (pma; neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway, and autonomic disturbance)                                                                       

        Peroneal Muscular Atrophy (PMA; Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, sual Pathway, and Autonomic Disturbance)                                                                        General: Peroneal muscular atro [...]

        Good acuity plus photosensitivity (gapp). track related iridiocyclitis and scleritis (trisc), transient light sensitivity (tls)                                                                                                                                        

        Good Acuity Plus Photosensitity (GAPP). Track Related Iridiocyclitis and Scleritis (TRISC), Transient Light Sensitity (TLS)                                                                                                                           [...]

        Ménière syndrome                                                                                                                                    

        Ménière Syndrome                                                                                                                                     General: Etiology unknown; more common in males between ages 40 and 60 years. Ocular: Nys [...]

        Avitaminosis c (scurvy; vitamin c deficiency)

        Avitaminosis C (Scurvy; Vitamin C Deficiency) General: Vitamin C deficiency. Ocular: Hemorrhages of lids, anterior chamber, vitreous cavity, retina, subconjunctil space, and orbit (most prominent, with resulting exophthalmos); keratiti [...]

        Neurodermatitis (lichen simplex chronicus)                                                                                        

        Neurodermatitis (Lichen Simplex Chronicus)                                                                                         General: Skin altered due to chronic rubbing or scratching. Ocular: Keratoconjunctitis; lid edema; lid pig [...]

        Vermis syndrome                                                                                                                                   

        Vermis Syndrome                                                                                                                                    General: Medulloblastomas arising primarily in the posterior rmis but invading the fourth [...]

        Treft syndrome                                                                                                                                       

        Treft Syndrome                                                                                                                                        General: Autosomal dominant; usually appears by age 11 years. Ocular: Optic atrophy; su [...]

        Marin amat syndrome (inverted marcus gunn phenomenon)                                                           7

        Marin Amat Syndrome (Inrted Marcus Gunn Phenomenon)                                                           7 General: Intrafacial connection between the orbicularis oculi and external pterygoid muscles; occurs primarily after peripheral [...]

        Kallmann syndrome (hypogonadotropic hypogonadism-anosmia syndrome)                                

        Kallmann Syndrome (Hypogonadotropic Hypogonadism-Anosmia Syndrome)                                 General: Disorder of hypothalamic function involng the control of releasing factors, with hypogonadism and anosmia as the clinical signs; a [...]

        Smith syndrome (facio-skeleto-genital dysplasia)                                                                            

        Smith Syndrome (Facio-Skeleto-Genital Dysplasia)                                                                             General: Autosomal recessi; more common in males. Ocular: Ptosis; antimongoloid slant; epicanthus. Clinical: [...]

        G

        G G Syndrome (Hypertelorism Esophageal Abnormality and Hypospadias; Hypospadias-Dysphagia Syndrome)                                                                                                                                          [...]

        Periocular metastatic tumors (ocular metastatic tumors)                                                                 

        Periocular Metastatic Tumors (Ocular Metastatic Tumors)                                                                  General: Neoplasms that delop from malignant cells and are carried from a primary site of malignancy. Ocular: Reti [...]

        Mad hatter syndrome                                                                                                                              

        Mad Hatter Syndrome                                                                                                                               General: Chronic mercury intoxication; symptoms seldom impro regardless of treatment. Ocul [...]

        Mulibrey nanism syndrome (perheentupa syndrome)                                                                        

        Mulibrey Nanism Syndrome (Perheentupa Syndrome)                                                                         General: Autosomal recessi inheritance; progressi growth failure; myocardial fibrosis. Ocular: Alternating esotrop [...]

        N

        N Naegeli Syndrome (Melanophoric Nes Syndrome; Franceschetti-Jadassohn Syndrome; Naegeli Incontinentia Pigmenti; Reticular Pigmented Dermatosis)                                                                    General: Autoso [...]

        Episkopi blindness                                                                                                                                    

        Episkopi Blindness                                                                                                                                     General: Sex-linked; confined to male members of Greek Cypriot family group, most of whom [...]

        Hanhart syndrome (richner syndrome; recessive keratosis palmoplantaris; pseudoherpetic keratitis; richner-hanhart syndrome; tyrosinemia ii; tyrosinosis; pseudodendritic keratitis)    5

        Hanhart Syndrome (Richner Syndrome; Recessi Keratosis Palmotaris; Pseudoherpetic Keratitis; Richner-Hanhart Syndrome; Tyrosinemia II; Tyrosinosis; Pseudodendritic Keratitis)    5 General: Autosomal recessi; consanguinity. Ocular: Ex [...]

        Oculo-orogenital syndrome (riboflavin deficiency syndrome; gopalan ii syndrome; jolliffe syndrome)                                                                                                                                                 

        Oculo-Orogenital Syndrome (Riboflan Deficiency Syndrome; Gopalan II Syndrome; Jolliffe Syndrome)                                                                                                                                                  [...]

        Kartagener syndrome (sinusitis-bronchiectasis-situs inversus syndrome; bronchiectasis-dextrocardia-sinusitis; kartagener triad)                                                                                                                     6

        Kartagener Syndrome (Sinusitis-Bronchiectasis-Situs Inrsus Syndrome; Bronchiectasis-Dextrocardia-Sinusitis; Kartagener Triad)                                                                                                                     6 [...]

        Aniridia, cerebellar ataxia, and mental deficiency (gillespie syndrome)

        Aniridia, Cerebellar Ataxia, and Mental Deficiency (Gillespie Syndrome)                                                General: Autosomal recessi; onset at birth. Ocular: Congenital cataracts; incomplete formation of iris; bilateral co [...]

        Sorsby iii syndrome (sorsby fundus dystrophy)                                                                              

        Sorsby III Syndrome (Sorsby Fundus Dystrophy)                                                                               General: Both sexes affected; onset in fifth decade of life; autosomal dominant; mutations in the tissue inhibitor of [...]

        Franceschetti syndrome (i)                                                                                                                      

        Franceschetti Syndrome (I)                                                                                                                       General: Inborn disease occurring at birth; etiology unknown. Ocular: Deep punctate dystrophy [...]

        Von recklinghausen syndrome (neurofibromatosis type i; neurinomatosis)                                 1

        Von Recklinghausen Syndrome (Neurofibromatosis Type I; Neurinomatosis)                                 1 General: Dominant inheritance activated at puberty, during pregnancy, and at menopause; strong edence supports the existence of NFl as [...]

        Snuff-out syndrome (snuff syndrome)                                                                                               1

        Snuff-Out Syndrome (Snuff Syndrome)                                                                                               1 General: Rare; sudden vision loss following ocular or laser surgery in patients with adnced glaucoma; etiolo [...]

        Coenurosis                                                                                                                                                  261

        Coenurosis                                         [...]

        Bruns syndrome (postural change syndrome)                                                                                      180

        Bruns Syndrome (postural Change Syndrome)                                    [...]

        Kjellin syndrome                                                                                                                                       6

        Kjellin Syndrome                                                                                                                                       6 General: Autosomal recessi disorder; degeneration progressi. Ocular: Yellow retinal [...]

        Peutz-touraine syndrome (peutz-jeghers syndrome)                                                                         

        Peutz-Touraine Syndrome (Peutz-Jeghers Syndrome)                                                                          General: Recognized in infants; autosomal dominant; gastrointestinal polyps; jejunal polyps are consistent feature; the [...]

        Cretinism (hypothyroid goiter; hypothyroidism; juvenile hypothyroidism; myxedema)                320

        Cretinism (Hypothyroid Goiter; Hypothyroidism; Junile Hypothyroidism; Myxedema)                320 General: Deficient thyroid function. Ocular: [...]

        Otocephaly                                                                                                                                                 

        Otocephaly                                                                                                                                                  General: Birth defect; extreme malformation of first brachial arch characterized by a [...]

        Wermer syndrome (multiple endocrine neoplasia 1; men1; multiple endocrine adenomatosis 1; mea1; endocrine adenoma-peptic ulcer complex; pluriglandular adenomatosis n                     1

        Wermer Syndrome (Multiple Endocrine Neoplasia 1; MEN1; Multiple Endocrine Adenomatosis 1; MEA1; Endocrine Adenoma-Peptic Ulcer Complex; Pluriglandular Adenomatosis n                     1 General: Autosomal dominant; high degree of pen [...]

        Palatal myoclonus syndrome                                                                                                                  

        Palatal Myoclonus Syndrome                                                                                                                   General: Vascular disorders of brainstem that inlve inferior olive and olidentate connection; co [...]

        Mckusick-weiblaecher syndrome                                                                                                           7

        McKusick-Weiblaecher Syndrome                                                                                                           7 General: Cataract; leg absence deformity; rare; two cases reported in Amish females whose parents share [...]

        Polycythemia vera (erythema; erythrocytosis megalosplenica; myelopathic polycythemia; vaquez disease; vaquez-osler syndrome; cryptogenic polycythemia; polycythemia rubra; splenomegalic polycythemia)                                                                                                                                          

        Polycythemia Vera (Erythema; Erythrocytosis Megalosplenica; Myelopathic Polycythemia; quez Disease; quez-Osler Syndrome; Cryptogenic Polycythemia; Polycythemia Rubra; Splenomegalic Polycythemia)                                                 [...]

        Cholera                                                                                                                                                       238

        Cholera                                        &nb [...]

        Acropachy (hypertrophic pulmonary osteoarthropathy)

        Acropachy (Hypertrophic Pulmonary Osteoarthropathy)                                                                           General: Three separate components: clubbing of fingers, periosteal proliferation of distal ends of long bones, and [...]

        Pseudoophthalmoplegia syndrome (roth-bielschowsky syndrome)                                                 

        Pseudoophthalmoplegia Syndrome (Roth-Bielschowsky Syndrome)                                                  General: Supranuclear lesion in the temporal lobe. Ocular: Paralysis of lateral gaze in one direction; stibular nystagmus in w [...]

        Spatial visualization aptitude                                                                                                                1

        Spatial Visualization Aptitude                                                                                                                1 General: Sex-linked; more prevalent in males. Ocular: Aptitude for sualizing space. Clinica [...]

        Oculorenocerebellar syndrome (orc syndrome)                                                                                

        Oculorenocerebellar Syndrome (ORC Syndrome)                                                                                 General: Autosomal recessi. Ocular: Progressi tapetoretinal degeneration with loss of retinal ssels. Clini [...]

        Carpenter syndrome (acrocephalopolysyndactyly type ii)                                                                 202

        Carpenter Syndrome (Acrocephalopolysyndactyly Type II)                                &nbs [...]

        Optic disk traction syndrome                                                                                                                

        Optic Disk Traction Syndrome                                                                                                                 General: Optic disc traction with elevation associated with posterior treous detachment or treop [...]

        Neuroblastoma                                                                                                                                          

        Neuroblastoma                                                                                                                                           General: Highly malignant solid tumor arising from undifferentiated sympathetic neuroblas [...]

        V

        V V Esotropia Syndrome                                                                                                                            1 Esotropia greater looking down by 15 prism diopters than looking up; may ha under [...]

        Angelucci syndrome (critical allergic conjunctivitis syndrome)

        Angelucci Syndrome (Critical Allergic conjunctitis Syndrome)                                                               General: Etiology unknown; pruriginous cutaneous and mucous reactions that appear and cease rather suddenly. Ocu [...]

        Cat's-eye syndrome (schachenmann syndrome; schmid-fraccaro syndrome; partial trisomy g syndrome)                                                                                                                                              216

        Cat's-Eye Syndrome (Schachenmann Syndrome; Schmid-Fraccaro Syndrome; Partial Trisomy G Syndrome)                       & [...]

        Congenital spherocytic anemia (congenital hemolytic jaundice; hereditary spherocytosis)          286

        Congenital Spherocytic Anemia (Congenital Hemolytic Jaundice; Hereditary Spherocytosis)          286 General: Hereditary deficiency of erythrocyte glucose-6-phosphate after exposure to [...]

        Bloch-sulzberger syndrome (incontinentia pigmenti; siemens-bloch-sulzberger syndrome)          157

        Bloch-Sulzberger Syndrome (Incontinentia Pigmenti; Siemens-Bloch-Sulzberger Syndrome)          157 General: Familial disorder affecting ectoderm; manifestations at birth; female [...]

        De lange syndrome (i) (congenital muscular hypertrophy cerebral syndrome; brachmann-de lange syndrome)                                                                                                                                                  354

        De Lange Syndrome (I) (Congenital Muscular Hypertrophy Cerebral Syndrome; Brachmann-De Lange Syndrome)                         [...]

        Schafer syndrome (tyrosine transaminase deficiency; richer-hanhart syndrome; keratosis palmoplantaris syndrome)                                                                                                                                                1

        Schafer Syndrome (Tyrosine Transaminase Deficiency; Richer-Hanhart Syndrome; Keratosis Palmotaris Syndrome)                                                                                                                                               [...]

        Hydroa vacciniforme                                                                                                                               

        Hydroa Vacciniforme                                                                                                                                General: Sensitivity to sunlight. Ocular: Conjunctivitis; corneal siculae; keratitis; cica [...]

        Mcfarland syndrome                                                                                                                               7

        McFarland Syndrome                                                                                                                               7 General: Autosomal recessi; duplication of chromosome 16q22 has been proposed; prominent amni [...]

        Andogsky syndrome (atopic cataract syndrome; dermatogenous cataract)

        Andogsky Syndrome (Atopic Cataract Syndrome; Dermatogenous Cataract)                                         General: Inherited abnormality involng the skin and lens with an altered reactity to antigen. Ocular: Atopic keratoconjuncti [...]

        Parinaud syndrome (divergence paralysis; subthalamic syndrome; paralysis of vertical movements; pretectal syndrome)                                                                                                            

        Parinaud Syndrome (Divergence Paralysis; Subthalamic Syndrome; Paralysis of Vertical Movements; Pretectal Syndrome)                                                                                                             General: riou [...]

        Nieden syndrome (telangiectasia-cataract syndrome)                                                                        8

        Nieden Syndrome (Telangiectasia-Cataract Syndrome)                                                                        8 General: Etiology unknown; familial occurrence; onset from birth. Ocular: Sparse eyebrows; glaucoma; dyscoria; defec [...]

        Achondroplasia

        Achondroplasia                                                                                                                                                General: Dwarfism; etiology unknown; occurs in both sexes; inheritance is autosomal [...]

        Pierre-robin syndrome (robin syndrome; micrognathia-glossoptosis syndrome)                         

        Pierre-Robin Syndrome (Robin Syndrome; Micrognathia-Glossoptosis Syndrome)                          General: Etiology unknown; manifestations at birth; pathogenesis based on arrested fetal delopment; history of intrauterine disturbance in [...]

        Elschnig syndrome i (meibomian conjunctivitis)                                                                                 

        Elschnig Syndrome I (Meibomian Conjunctitis)                                                                                  General: Chronic inflammations; characteristic foamy secretion; benign. Ocular: Conjunctitis; foamy secret [...]

        Retinohypophysary syndrome (benign retinohypophysary syndrome; lijo pavia-lis syndrome)

        Retinohypophysary Syndrome (Benign Retinohypophysary Syndrome; Lijo Paa-Lis Syndrome) General: Alterations of the bony structure of the sella turcica with decalcifications and osteolysis of the posterior clinoid process; all ages; more f [...]

        Baller-gerold syndrome (craniosynostosis radial aplasia)

        Baller-Gerold Syndrome (Craniosynostosis Radial Aplasia) General: Autosomal recessi inheritance. Ocular: Ocular hypertelorism; epicanthic folds. Clinical: High nasal bridge; low philtrum; dysplastic ears; radius hypoplastic or absent [...]

        Plague (bubonic plague; pneumonic plague)                                                                                          9

        Plague (Bubonic Plague; Pneumonic Plague)                                                                                          9 General: Infectious disease of animals (principally wild animals and rodents) that is transmitted through the [...]

        Hunter syndrome (mps ii syndrome; mucopolysaccharidosis ii; systemic mucopolysaccharidosis type ii)                                                                                                                                                       5

        Hunter Syndrome (MPS II Syndrome; Mucopolysaccharidosis II; Systemic Mucopolysaccharidosis Type II)                                                                                                                                                     [...]

        Paget disease (osteitis deformans; congenital hyperphosphatemia; hyperostosis corticalis deformans; pozzi syndrome; chronic congenital idiopathic hyperphosphatemia; osteochalasis desmalis familiaris; familial osteoectasia)                                                                                            

        et Disease (Osteitis Deformans; Congenital Hyperphosphatemia; Hyperostosis Corticalis Deformans; Pozzi Syndrome; Chronic Congenital Idiopathic Hyperphosphatemia; Osteochalasis Desmalis Familiaris; Familial Osteoectasia)                          [...]

        Babinski-nageotte syndrome (medullary tegmental paralysis)

        Babinski-Nageotte Syndrome (Medullary Tegmental Paralysis) General: Lesion in pontobulbar transitional region (corpus restiforme, Deiters nucleus, sympathetic fibers); Horner triad is always part of this syndrome; the findings are similar t [...]

        Blastomycosis                                                                                                                                              151

        Blastomycosis                                       &nb [...]

        Disseminated sclerosis (multiple sclerosis)                                                                                              375

        Disseminated Sclerosis (Multiple Sclerosis)                                  &nb [...]

        Blocked nystagmus syndrome (nystagmus blockage syndrome; nystagmus compensation syndrome)                                                                                                                                                  158

        Blocked Nystagmus Syndrome (Nystagmus Blockage Syndrome; Nystagmus Compensation Syndrome)                        &n [...]

        Curly hair-ankyloblepharon-nail dysplasia syndrome (chands)                                                  333

        Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome (CHANDS)                                [...]

        Optic atrophy-spastic paraplegia syndrome                                                                                        

        Optic Atrophy-Spastic Paraplegia Syndrome                                                                                         General: Degenerati disorder of CNS associated with optic atrophy; sex-linked. Ocular: Optic atrophy. Cl [...]

        Disseminated lupus erythematosus (systemic lupus erythematosus; lupus erythematosus; kaposi-libman-sack syndrome)                                                                                                                                         374

        Disseminated Lupus Erythematosus (Systemic Lupus Erythematosus; Lupus Erythematosus; Kaposi-Libman-Sack Syndrome)                       [...]

        Pilodental dysplasia with refractive errors (euhidrotic ectodermal dysplasia; trichodental dysplasia with hyperopia)                                                                                                                       

        Pilodental Dysplasia with Refracti Errors (Euhidrotic Ectodermal Dysplasia; Trichodental Dysplasia with Hyperopia)                                                                                                                        Gen [...]

        Influenza                                                                                                                                                    

        Influenza                                                                                                                                                     General: Acute respiratory infection of specific ral etiology. Ocular: Conjunct [...]

        Sandhoff disease (gangliosidosis type 2 [gm2])                                                                                  

        Sandhoff Disease (Gangliosidosis Type 2 [GM2])                                                                                   General: Hereditary cerebromacular degeneration-sphingolipidoses; onset by age 6 months; autosomal recessi in [...]

        Nystagmus, hereditary vertical                                                                                                               8

        Nystagmus, Hereditary Vertical                                                                                                               8 General: Autosomal dominant. Ocular: Motor-type rtical and horizontal nystagmus; hyperacti v [...]

        Porokeratosis                                                                                                                                           

        Porokeratosis                                                                                                                                            General: Autosomal dominant; prominent in males; onset in early childhood; characterized [...]

        Down syndrome (mongolism; trisomy g; trisomy 21 syndrome; mongoloid idiocy)                     383

        Down Syndrome (Mongolism; Trisomy G; Trisomy 21 Syndrome; Mongoloid Idiocy)                     383 General: Trisomy of chromosome 2 [...]

        Smith-magenis syndrome (sms)                                                                                                          

        Smith-Magenis Syndrome (SMS)                                                                                                           General: Mental retardation, physical dysmorphia, and behaor abnormalities due to a deletion at chromoso [...]

        Siegrist syndrome (pigmented choroidal vessels)                                                                              

        Siegrist Syndrome (Pigmented Choroidal Vessels)                                                                               General: Rare; more common in females (2:1); malignant hypertension; onset in adnced age. Ocular: Exophthalmos [...]

        Osteogenesis imperfecta congenita, microcephaly, and cataracts                                                     

        Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts                                                      General: Autosomal recessi. Ocular: Cataracts; blue sclera; keratoconus. Clinical: Brain abnormally small; multiple p [...]

        Rothmund syndrome (rothmund-thomson syndrome; telangiectasia-pigmentation-cataract syndrome; ectodermal syndrome; congenital poikiloderma with juvenile cataract)                   

        Rothmund Syndrome (Rothmund-Thomson Syndrome; Telangiectasia-Pigmentation-Cataract Syndrome; Ectodermal Syndrome; Congenital Poikiloderma with Junile Cataract)                    General: Autosomal recessi; more common in females (2:1) [...]

        Coloboma, ocular                                                                                                                                      267

        Coloboma, Ocular                                        [...]

        Myelinated optic nerve fibers                                                                                                                

        Myelinated Optic Ner Fibers                                                                                                                 General: Autosomal dominant; transmission has been reported as autosomal recessi. Ocular: Whit [...]

        Pneumococcal infections (streptococcus pneumoniae infections)                                                      

        Pneumococcal Infections (Streptococcus Pneumoniae Infections)                                                       General: Gram-positi diplococcus Streptococcus pneumoniae; some strains are encapsulated while others are not; ocular infec [...]

        4q- syndrome (4q deletion syndrome)                                                                                                    4

        4q- Syndrome (4q Deletion Syndrome)                                                                                                    4 General: Chromosome 4q deletion syndrome. Ocular: Hypertelorism, epicanthal folds. Clinical: Depress [...]

        Friedreich ataxia (spinocerebellar ataxia)                                                                                             4

        Friedreich Ataxia (Spinocerebellar Ataxia)                                                                                             4 General: Etiology unknown, either autosomal recessi or dominant; progressi; incapacitating by age 20 [...]

        Meretoja syndrome (finnish type, fap iv)                                                                                          7

        Meretoja Syndrome (Finnish Type, FAP IV)                                                                                          7 General: Lattice corneal dystrophy type II with familial amyloid polyneuropathy type I also called primary h [...]

        Junius-kuhnt syndrome (kuhnt-junius disease; macular senile disciform degeneration [i]; macula lutea juvenile degeneration [2])                                                                                                              6

        Junius-Kuhnt Syndrome (Kuhnt-Junius Disease; Macular Senile Disciform Degeneration [I]; Macula Lutea Junile Degeneration [2])                                                                                                              6 G [...]

        Mietens syndrome (mietens-weber syndrome)                                                                                    

        Mietens Syndrome (Mietens-Weber Syndrome)                                                                                     General: Etiology unknown; unclassifiable familial condition. Ocular: Bilateral corneal opacities; horizontal and [...]

        Chorea (acute chorea; sydenham chorea; st. vitus dance; huntington hereditary chorea)        240

        Chorea (Acute Chorea; Sydenham Chorea; St. tus Dance; Huntington Hereditary Chorea)        240 General: Mendelian dominant trait. Ocular: Lid retraction; spasmodic clos [...]

        Psittacosis (ornithosis)                                                                                                                            

        Psittacosis (Ornithosis)                                                                                                                             General: Infectious disease transmitted from birds to man; causati agent is Chlamydia psit [...]

        Schwartz syndrome                                                                                                                                 1

        Schwartz Syndrome                                                                                                                                 1 General: Glaucoma associated with retinal detachment; caused by inflammation of trabecula or p [...]

        Jeune disease (asphyxiating thoracic dystrophy; thoracic-pelvic-phalangeal dystrophy)            

        Jeune Disease (Asphyxiating Thoracic Dystrophy; Thoracic-Pelvic-Phalangeal Dystrophy)             General: Autosomal recessi; similar to Ellis-van Creld syndrome; positi associations of this disorder with cystinuria has been reported [...]

        Molluscum contagiosum                                                                                                                          

        Molluscum Contagiosum                                                                                                                           General: Etiologic agent of this disease is a poxvirus that can cause proliferati skin lesions [...]

        Ellis-van creveld syndrome (chondroectodermal dysplasia)                                                            

        Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)                                                             General: Autosomal recessive inheritance; occurs in the Amish; associated with de no chromosomal abnormality: deletion [...]

        Gangliosidosis gm1 type 2 (juvenile gangliosidosis)                                                                           4

        Gangliosidosis GM1 Type 2 (Juvenile Gangliosidosis)                                                                           4 General: Absence of Band C isoenzymes of β-galactosidase results in neural and sceral deposition of ganglio [...]

        Dermatitis herpetiformis (duhring-brocq disease)                                                                               359

        Dermatitis Herpetiformis (Duhring-Brocq Disease)                                 &nbs [...]

        Papillon-lefevre syndrome (hyperkeratosis palmoplantaris with periodontosis)                             

        Papillon-Lefevre Syndrome (Hyperkeratosis Palmotaris with Periodontosis)                              General: Autosomal recessi; onset between ages 1 and 4 years. Ocular: Nystagmus. Clinical: Hyperkeratosis of the palms and sole [...]

        Gonorrhea                                                                                                                                                 

        Gonorrhea                                                                                                                                                  General: Caused by Neisseria gonorrhoeae, which is transmitted sexually. Ocular: Con [...]

        Roy syndrome ii                                                                                                                                      1

        Roy Syndrome II                                                                                                                                      1 General: Long history of smoking tobacco. Ocular: Cataract; nuclear cataract may be corti [...]

        Snowflake vitreoretinal degeneration 1                                                                                                1

        Snowflake Vitreoretinal Degeneration 1                                                                                                1 General: Autosomal dominant; very small yellow-white dots on the retina. Ocular: Fibrillar treous dege [...]

        Diverticulosis of bowel, hernia, retinal detachment                                                                             377

        Dirticulosis of Bowel, Hernia, Retinal Detachment                                 & [...]

        Pituitary gigantism syndrome (gigantism syndrome; launois syndrome)                                       9

        Pituitary Gigantism Syndrome (Gigantism Syndrome; Launois Syndrome)                                       9 General: Increased production of growth hormone due to hyperplasia of the eosinophilic cells and chromophobe adenoma of the anterior [...]

        Lattice degeneration and retinal detachment                                                                                      

        Lattice Degeneration and Retinal Detachment                                                                                       General: Autosomal dominant; progressi; lattice degeneration precedes retinal detachment by about 20 years; f [...]

        Pituitary gigantism syndrome (gigantism syndrome; launois syndrome)                                       9

        Pituitary Gigantism Syndrome (Gigantism Syndrome; Launois Syndrome)                                       9 General: Increased production of growth hormone due to hyperplasia of the eosinophilic cells and chromophobe adenoma of the anterior [...]

        Langer-giedion syndrome (trichorhinophalangeal syndrome, type ii)                                          

        Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II)                                           General: Rare congenital condition. Ocular: Iris colobomata. Clinical: Mental retardation, bulbous nose, sparse hair, cone-shap [...]

        Pertussis (whooping cough)                                                                                                                   

        Pertussis (Whooping Cough)                                                                                                                    General: Causati agent Haemophilus pertussis (Bordetella pertussis); not all patients who delop [...]

        Myasthenia gravis, neonatal or infantile (infantile myasthenia gravis; neonatal myasthenia gravis)       

        Myasthenia Gravis, Neonatal or Infantile (Infantile Myasthenia Gravis; Neonatal Myasthenia Gravis)        General: Occurs in newborn of myasthenic mother; caused by compound in circulation receid through placenta (see Erb-Goldflam Syndrom [...]

        Sorsby i syndrome (hereditary macular coloboma syndrome)                                                        1

        Sorsby I Syndrome (Hereditary Macular Coloboma Syndrome)                                                        1 General: Autosomal dominant; related to Laurence-Moon-Bardet-Biedl and Biemond syndromes; apical dystrophy of the extremities a [...]

        Optic atrophy with demyelinating disease of cns                                                                              

        Optic Atrophy with Demyelinating Disease of CNS                                                                               General: Autosomal dominant; demyelinated optic ners appear smaller than normal and are pale white or gray in col [...]

        Nielsen syndrome (exhaustive psychosis syndrome; neuromuscular exhaustion syndrome)         8

        Nielsen Syndrome (Exhausti Psychosis Syndrome; Neuromuscular Exhaustion Syndrome)         8 General: Chronic infections; postoperati phases frequently are associated with extreme stress and fatigue; similar manifestations often ha been [...]

        Bing-neel syndrome                                                                                                                                  147

        Bing-Neel Syndrome                                      &nbs [...]

        Cholestasis with gallstone, ataxia, and visual disturbances                                                                239

        Cholestasis with Gallstone, Ataxia, and sual Disturbances                              &nbs [...]

        Yaws (frambesia)                                                                                                                                    1

        Yaws (Frambesia)                                                                                                                                    1 General: Chronic infectious disease of childhood; causati agent is Treponema pertenue; inc [...]

        Dorsal midbrain syndrome                                                                                                                      381

        Dorsal Midbrain Syndrome                                     &nbs [...]

        Oculogastrointestinal muscular dystrophy                                                                                            

        Oculogastrointestinal Muscular Dystrophy                                                                                             General: Autosomal recessive; sceral myopathy with external ophthalmoplegia; intestinal pseudo obstructio [...]

        Microphthalmia and mental deficiency                                                                                                 

        Microphthalmia and Mental Deficiency                                                                                                  General: Autosomal recessi. Ocular: Microphthalmia; corneal opacities. Clinical: Sere mental retar [...]

        Papillon-lefevre syndrome (hyperkeratosis palmoplantaris with periodontosis)                             

        Papillon-Lefevre Syndrome (Hyperkeratosis Palmotaris with Periodontosis)                              General: Autosomal recessi; onset between ages 1 and 4 years. Ocular: Nystagmus. Clinical: Hyperkeratosis of the palms and sole [...]

        Toxic lens syndrome ( toxic anterior segment syndrome; tass)                                                  1

        Toxic Lens Syndrome ( Toxic Anterior Segment Syndrome; TASS)                                                  1 General: Syndrome occurs within a few days to several weeks of imtation of an intraocular lens; with therapy, sion is restored [...]

        Frontonasal dysplasia syndrome (median cleft face syndrome)                                                      

        Frontonasal Dysplasia Syndrome (Median Cleft Face Syndrome)                                                       General: Congenital disorder without genetic background; condition may present a riety of facial malformations, depending on [...]

        Walker-clodius syndrome (lobster claw deformity with nasolacrimal obstruction; eec; ectrodactyly, ectodermal dysplasia, and cleft lip/palate)                                                                 1

        Walker-Clodius Syndrome (Lobster Claw Deformity with Nasolacrimal Obstruction; EEC; Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate)                                                                 1 General: Autosomal dominant; bot [...]

        Trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of the retina (oliver mcfarlane syndrome)                                                                                                               

        Trichomegaly with Mental Retardation, Dwarfism, and Pigmentary Degeneration of the Retina (Olir McFarlane Syndrome)                                                                                                                General: A [...]

        Senior syndrome (senior-loken syndrome; tubulointerstitial nephropathy syndrome; loken-senior syndrome; renal-retinal syndrome; renal dysplasia and retinal aplasia)           

        Senior Syndrome (Senior-Loken Syndrome; Tubulointerstitial Nephropathy Syndrome; Loken-Senior Syndrome; Renal-Retinal Syndrome; Renal Dysplasia and Retinal Aplasia)            General: Autosomal recessive trait; pleiotropic gene with ri [...]

        Hypoparathyroidism                                                                                                                                 

        Hypoparathyroidism                                                                                                                                  General: Deficient secretion of parathyroid hormone. Ocular: Keratitis; blepharospasm; ptos [...]

        Mohr-claussen syndrome (oral-facial-digital syndrome type ii; ofd syndrome; orofaciodigital syndrome ii)                                                                                                                                                                

        Mohr-Claussen Syndrome (Oral-Facial-Digital Syndrome Type II; OFD Syndrome; Orofaciodigital Syndrome II)                                                                                                                                                  [...]

        Pisk (pressure induced intralamellar stromal keratitis)                                                                     9

        PISK (Pressure Induced Intralamellar Stromal Keratitis)                                                                     9 General: Associated with LASIK post operative patients Ocular: Elevated IOP; ocular discomfort; blurred sion; [...]

        Patterned dystrophy of retinal pigment epithelium                                                                            

        Patterned Dystrophy of Retinal Pigment Epithelium                                                                             General: Autosomal dominant; probably there is a migration of pigment granules in the pigment epithelium, resulting [...]

        Trisomy 22 syndrome                                                                                                                             1

        Trisomy 22 Syndrome                                                                                                                             1 General: Trisomy for chromosome 21/22; trisomy 22 may be ry mild form of Down syndrome (trisom [...]

        Lhermitte-levy syndrome (hallucinosis-red nucleus; lhermitte-delthil-gamier syndrome)        

        Lhermitte-Levy Syndrome (Hallucinosis-Red Nucleus; Lhermitte-Delthil-Gamier Syndrome)         General: Lesion of unknown nature in the upper portion of peduncle and subthalamic region; occurs in the elderly. Ocular: sual hallucinations [...]

        Brachymetapody-anodontia-hypotrichosis albinoidism syndrome (anodontia-hypotrichosis syndrome)                                                                                                                                                  169

        Brachymetapody-Anodontia-Hypotrichosis Albinoidism Syndrome (Anodontia-Hypotrichosis Syndrome)                       &nb [...]

        Brown-mclean syndrome                                                                                                                       177

        Brown-McLean Syndrome                                      & [...]

        Niacin overdose (nicotinic acid overdose)                                                                                             8

        Niacin Overdose (Nicotinic Acid Overdose)                                                                                             8 General: B vitamin used in large doses to lower serum cholesterol and triglyceride levels or as a sodila [...]

        Mmmm syndrome (neuhauser syndrome; megalocornea, macrocephaly, mental and motor retardation)                                                                                                                                              

        MMMM Syndrome (Neuhauser Syndrome; Megalocornea, Macrocephaly, Mental and Motor Retardation)                                                                                                                                               Gene [...]

        Misdirected third nerve syndrome                                                                                                       

        Misdirected Third Nerve Syndrome                                                                                                        General: May occur with a riety of inflammatory infections and parainfections, scular lesions, tumors [...]

        Tolosa-hunt syndrome (painful ophthalmoplegia)                                                                             1

        Tolosa-Hunt Syndrome (Painful Ophthalmoplegia)                                                                             1 General: Symptoms last from days to weeks; attacks recur at intervals of months or years; inflammatory lesion of ca [...]

        Multiple endocrine neoplasia 2b or 3 (men 2b or 3)                                                                          

        Multiple Endocrine Neoplasia 2B or 3 (MEN 2B or 3)                                                                           General: Autosomal dominant inheritance; multiple endocrine neoplasia type 3 (MEN3) has been separated from MEN2 bec [...]

        Extreme hydrocephalus syndrome (kleeblattschädel syndrome; cloverleaf skull syndrome; hydrocephalus; chondrodystrophicus congenita)                                                                                                           

        Extreme Hydrocephalus Syndrome (Kleeblattschädel Syndrome; Clorleaf Skull Syndrome; Hydrocephalus; Chondrodystrophicus Congenita)                                                                                                            G [...]

        Falciform folds with obesity, nontoxic goiter, hypogenitalism, and cryptorchidism                      4

        Falciform Folds with Obesity, Nontoxic Goiter, Hypogenitalism, and Cryptorchidism                      4 General: Etiology unknown; isolated rare cases. Ocular: Falciform folds; treous opacity. Clinical: Obesity; nontoxic goiter; hypo [...]

        Dawson disease (dawson encephalitis; subacute sclerosing panencephalitis; inclusion-body encephalitis)                                                                                                                                               346

        Dawson Disease (Dawson Encephalitis; Subacute Sclerosing Panencephalitis; Inclusion-Body Encephalitis)                        [...]

        Reiter syndrome (fiessinger-leroy syndrome; conjunctivo-urethro-synovial syndrome; idiopathic blennorrheal arthritis syndrome; polyarthritis enterica)                                               

        Reiter Syndrome (Fiessinger-Leroy Syndrome; Conjunctivo-Urethro-Synoal Syndrome; Idiopathic Blennorrheal Arthritis Syndrome; Polyarthritis Enterica)                                                General: Etiology unknown; males; onset a [...]

        Otocephaly                                                                                                                                                 

        Otocephaly                                                                                                                                                  General: Birth defect; extreme malformation of first brachial arch characterized by a [...]

        Balint syndrome (psychic paralysis of visual fixation syndrome)

        Balint Syndrome (Psychic Paralysis of Visual Fixation Syndrome) General: Bilateral lesion of parietooccipital region; rare occurrence; affected patients are unaware of objects otherwise familiar to them. Ocular: Psychic paralysis of sua [...]

        Tunbridge-paley disease                                                                                                                        

        Tunbridge-Paley Disease                                                                                                                         General: Onset in childhood; familial; optic atrophy and deafness seen in conjunction with juni [...]

        Corneal dystrophy, macular type (groenouw type ii corneal dystrophy)                                     300

        Corneal Dystrophy, Macular Type (Groenouw Type II Corneal Dystrophy)                             &nb [...]

        Nicolau syndrome (nicolau-hoigne syndrome)                                                                                     8

        Nicolau Syndrome (Nicolau-Hoigne Syndrome)                                                                                     8 General: First described as a nonallergic reaction following injection of bismuth; assumed to be caused by emboli [...]

        Kloepfer syndrome                                                                                                                                   6

        Kloepfer Syndrome                                                                                                                                   6 General: Rare autosomal recessi disease; manifestations at age 2 months; death between age [...]

        Pancreatitis                                                                                                                                                

        Pancreatitis                                                                                                                                                 General: Inflammation of pancreas. Ocular: Xerosis; night blindness; multiple bran [...]

        Young-simpson syndrome                                                                                                                    

        Young-Simpson Syndrome                                                                                                                     General: Rare congenital syndrome. Ocular: Blepharophimosis. Clinical: Congenital hypothyroidism; [...]

        Malignant hyperthermia syndrome                                                                                                       

        Malignant Hyperthermia Syndrome                                                                                                        General: Pharmacogenetic disease with uninhibited flow of calcium ion into muscle substance; leads to comb [...]

        Myopia, infantile severe                                                                                                                          

        Myopia, Infantile Sere                                                                                                                           General: Autosomal recessi; consanguineous parents. Ocular: High myopia; optic disk cuppin [...]

        Keratoconus posticus circumscriptus (kpc; kpc with associated malformations)                        6

        Keratoconus Posticus Circumscriptus (KPC; KPC with Associated Malformations)                        6 General: Autosomal recessive; rare; abnormality in corneal curture centrally localized on its posterior surface in association with opaci [...]

        Aarskog-scott syndrome (faciogenital dysplasia)

        Aarskog-Scott Syndrome (Faciogenital Dysplasia)                                                                                       General: Sex-linked; characterized by ocular hypertelorism, anterted nostrils, broad upper lip, and saddl [...]

        Trisomy 2q syndrome (q33-qter)                                                                                                          

        Trisomy 2q Syndrome (q33-qter)                                                                                                           General: Associated with monosomy 9p (p24-pter); autosomal recessi or X-linked inheritance. Ocular: [...]

        Craniotelencephalic dysplasia                                                                                                                  319

        Craniotelencephalic Dysplasia                                      [...]

        Optic nerve hypoplasia, familial (bilateral, unilateral)                                                                       

        Optic Ner Hypoplasia, Familial (Bilateral, Unilateral)                                                                        General: Autosomal dominant; congenital defect of optic ner and retina that occurs in both unilateral and bila [...]

        Linear iga disease                                                                                                                                    

        Linear IgA Disease                                                                                                                                     General: Bullous dermatosis with pruritic urticarial lesions with orlying sicles or bu [...]

        P

        P e Syndrome (Hypertensi Diencephalic Syndrome)                                                                       General: Irritation of parasympathetic and sympathetic centers in diencephalon; intradermal histamine 0.25 mg [...]

        Argininosuccinic aciduria (trichorrhexis nodosa)

        Argininosuccinic Aciduria (Trichorrhexis Nodosa)                                                                                      General: Deficient argininosuccinase (A Sase) deficiency; both sexes affected; prelent in females; autoso [...]

        Lymphadenosis benigna orbitae                                                                                                            

        Lymphadenosis Benigna Orbitae                                                                                                             General: Onset from age 18 to 88 years; localized inflammatory process of undetermined origin; duration [...]

        Behçet syndrome (dermato-stomato-ophthalmic syndrome; oculobuccogenital syndrome; gilbert syndrome)                                                                                                                                     133

        Behçet Syndrome (Dermato-Stomato-Ophthalmic Syndrome; Oculobuccogenital Syndrome; Gilbert Syndrome)                     &nb [...]

        Raymond syndrome (raymond-cestan syndrome; cestan [2] syndrome; pontine syndrome; disassociation of lateral gaze syndrome)                                                                                           

        Raymond Syndrome (Raymond-Cestan Syndrome; Cestan [2] Syndrome; Pontine Syndrome; Disassociation of Lateral Gaze Syndrome)                                                                                            General: Lesion involng [...]

        Primary antiphospholipid syndrome (pas)                                                                                        

        Primary Antiphospholipid Syndrome (PAS)                                                                                         General: Thrombophilic disorder characterized by the presence of autoantibodies and CNS involment, nous throm [...]

        Pituitary dysfunction and chorioretinopathy (cpd syndrome; chorioretinopathy and pituitary dysfunction)                                                                                                                                                                     9

        Pituitary Dysfunction and Chorioretinopathy (CPD Syndrome; Chorioretinopathy and Pituitary Dysfunction)                                                                                                                                                   [...]

        Antiphospholipid antibody syndrome (hughes syndrome)

        Antiphospholipid Antibody Syndrome (Hughes syndrome)                                                                        General: Recurrent arterial and venous thrombosis Ocular: Subconjunctival hemorrhage, hyphema, treous hemorrhage [...]

        Haemophilus influenzae                                                                                                                           

        Haemophilus Influenzae                                                                                                                            General: Gram-negative rod. Ocular: Conjunctitis; cellulitis; tenonitis; uveitis; treous [...]

        Neuroblastoma                                                                                                                                          

        Neuroblastoma                                                                                                                                           General: Highly malignant solid tumor arising from undifferentiated sympathetic neuroblas [...]

        Fetal alcohol syndrome                                                                                                                            4

        Fetal Alcohol Syndrome                                                                                                                            4 General: Dysgenesis in children born to alcoholic mothers; both sexes affected; onset from bir [...]

        Pillay syndrome (ophthalmomandibulomelic dysplasia)                                                                     

        Pillay Syndrome (Ophthalmomandibulomelic Dysplasia)                                                                      General: Autosomal dominant; both sexes affected. Ocular: Corneal opacities. Clinical: Temporomandibular fusion; ob [...]

        Passow syndrome (bremer status dysraphicus; status dysraphicus syndrome; syringomyelia; syringobulbia)                                                                                                                                           

        Passow Syndrome (Bremer Status Dysraphicus; Status Dysraphicus Syndrome; Syringomyelia; Syringobulbia)                                                                                                                                            [...]

        Mannosidosis                                                                                                                                             

        Mannosidosis                                                                                                                                              General: Rare; deficiency of alpha-mannosidase actity Ocular: Lens opacities; corn [...]

        Progressive intracranial arterial occlusion syndrome (taveras syndrome)                                   

        Progressi Intracranial Arterial Occlusion Syndrome (Taras Syndrome)                                    General: Children and young adults; caused by previous trauma and atheroma; occlusi endarteritis; predilection for the circle of Wi [...]

        Bipolaris                                                                                                                                                      148

        Bipolaris                                        & [...]

        Poison ivy dermatitis (rhus dermatitis; poison oak dermatitis; poison sumac dermatitis)         

        Poison I Dermatitis (Rhus Dermatitis; Poison Oak Dermatitis; Poison Sumac Dermatitis)          General: Direct contact or airborne contact from burning of t. Ocular: Keratitis; chemosis; blepharospasm; pustules of eyelids. Clinical: [...]

        Falciform detachment with microphthalmia and microcephaly                                                         

        Falciform Detachment with Microphthalmia and Microcephaly                                                          General: Rare; both sexes affected; etiology unknown. Ocular: Microphthalmia; congenital cataract; corneal opacities; falci [...]

        M

        M Macular Halo Syndrome                                                                                                                           General: Probably riant of Niemann-Pick disease; major differences are the ocular [...]

        Rinx disease (vsx1 mutation)                                                                                                               1

        Rinx Disease (X1 Mutation)                                                                                                               1 General: Mutation of the homeobox transcription factor gene X1 (RINX) Wide interpupillary distance; [...]

        Passow syndrome (bremer status dysraphicus; status dysraphicus syndrome; syringomyelia; syringobulbia)                                                                                                                                           

        Passow Syndrome (Bremer Status Dysraphicus; Status Dysraphicus Syndrome; Syringomyelia; Syringobulbia)                                                                                                                                            [...]

        Anthrax

        MIME-rsion: 1.0 Content-Location: file:///C:/2C75B317/sdhk77.htm Content-Transfer-Encoding: quoted-prinle Content-Type: text/html; charset="us-ascii" Anthrax &nb= sp;        &nb [...]

        Ullrich syndrome (ullrich-feichtiger syndrome; dyscraniopylophalangy)                                      1

        Ullrich Syndrome (Ullrich-Feichtiger Syndrome; Dyscraniopylophalangy)                                      1 General: Belongs to trisomy 13-l5; unknown etiology; sporadic occurrence. Ocular: Microphthalmia to anophthalmia; hypertelorism; n [...]

        Acquired immunodeficiency syndrome (aids; acquired cellular immunodeficiency; acquired immunodeficiency)

        Acquired Immunodeficiency Syndrome (AIDS; Acquired Cellular Immunodeficiency; Acquired Immunodeficiency)                                                                                                                                          [...]

        Coloboma of macula (agenesis of macula)                                                                                             265

        Coloboma of Macula (Agenesis of Macula)                                   & [...]

        One-and-a-half syndrome                                                                                                                       

        One-and-a-Half Syndrome                                                                                                                        General: Lesions in medial longitudinal fasciculus and paramedian pontine reticular formation; lat [...]

        Ziprkowski syndrome                                                                                                                             1

        Ziprkowski Syndrome                                                                                                                             1 General: X-linked recessi albinism. Ocular: Ocular albinism. Clinical: Albinism generaliz [...]

        Hays-wells syndrome (aec syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome)                                                                                                                                                 

        Hays-Wells Syndrome (AEC Syndrome; Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome)                                                                                                                                                  [...]

        Plummer-vinson syndrome (sideropenic dysphagia syndrome; paterson-brown-kelly syndrome; waldenstrom-kjellberg syndrome)                                                                                    

        Plummer-Vinson Syndrome (Sideropenic Dysphagia Syndrome; Paterson-Brown-Kelly Syndrome; Waldenstrom-Kjellberg Syndrome)                                                                                     General: Deficiency of tamin B co [...]

        Paget disease (osteitis deformans; congenital hyperphosphatemia; hyperostosis corticalis deformans; pozzi syndrome; chronic congenital idiopathic hyperphosphatemia; osteochalasis desmalis familiaris; familial osteoectasia)                                                                                            

        et Disease (Osteitis Deformans; Congenital Hyperphosphatemia; Hyperostosis Corticalis Deformans; Pozzi Syndrome; Chronic Congenital Idiopathic Hyperphosphatemia; Osteochalasis Desmalis Familiaris; Familial Osteoectasia)                          [...]

        Fetal anticonvulsant syndrome                                                                                                               4

        Fetal Anticonvulsant Syndrome                                                                                                               4 General: Congenital after maternal ingestion fo sodium lproate, carbamazepine and phenytoin. Oc [...]

        Wolf syndrome (monosomy 4 partial syndrome; chromosome 4 partial deletion syndrome; hirschhorn-cooper syndrome)                                                                                                              1

        Wolf Syndrome (Monosomy 4 Partial Syndrome; Chromosome 4 Partial Deletion Syndrome; Hirschhorn-Cooper Syndrome)                                                                                                              1 General: Partial [...]

        O

        O Obesity-Cerebral-Ocular-Skeletal Anomalies Syndrome                                                                       General: Rare, autosomal recessi disease; similar to Prader-Willi and Laurence-Moon-Bardet-Biedl syndrom [...]

        Ophthalmoplegic neuromuscular disorder with abnormal mitochondria                                        

        Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria                                         General: Autosomal recessi. Ocular: Ptosis; external ophthalmoplegia. Clinical: Involment of cranial ners and skeletal mus [...]

        Fleck retina of kandori syndrome (kandori syndrome)                                                                     4

        Fleck Retina of Kandori Syndrome (Kandori Syndrome)                                                                     4 General: Possibly hereditary; onset young age; focal disturbance of the retinal pigment epithelium (RPE); affects both s [...]

        Iridogonodysgenesis (iris hypoplasia with glaucoma)                                                                         

        Iridogonodysgenesis (Iris Hypoplasia With Glaucoma)                                                                          General: Autosomal dominant; similar to Rieger syndrome or hereditary junile glaucoma. Ocular: Stroma of iris h [...]

        Outer retinal ischemic infarction syndrome                                                                                        

        Outer Retinal Ischemic Infarction Syndrome                                                                                         General: Complication that may occur during the course of cataract extraction or closed trectomy due to obst [...]

        Choroidoretinal dystrophy                                                                                                                       243

        Choroidoretinal Dystrophy                                     &nb [...]

        Canine tooth syndrome (class vii superior oblique palsy)                                                               192

        Canine Tooth Syndrome (Class I Superior Oblique Palsy)                                &n [...]

        Muir-torre syndrome                                                                                                                              

        Muir-Torre Syndrome                                                                                                                               General: Rare; autosomal dominant; characterized by sebaceous tumors and internal malignancies [...]

        Trisomy 6p syndrome (6p+ syndrome, 6p duplication syndrome)                                                   1

        Trisomy 6p Syndrome (6p+ Syndrome, 6p Duplication Syndrome)                                                   1 General: Chromosome 6p trisomy syndrome. Ocular: Blepharochalasis. Clinical: Low birth weight; psychomotor retardation; cran [...]

        Bbb syndrome (hypertelorism-hypospadias syndrome; opitz syndrome)                                       129

        BBB Syndrome (Hypertelorism-Hypospadias Syndrome; Opitz Syndrome)                             &nbs [...]

        Agranulocytosis syndrome

        Agranulocytosis Syndrome (Pernicious Leukopenia Syndrome; Schultz Syndrome; Agranulocytic  Angina Syndrome; Malignant Neutropenia Syndrome)                                                                                            General: C [...]

        Miller syndrome (wilms aniridia syndrome; wagr syndrome; wilms tumor-aniridia- genitourinary abnormalities-mental retardation syndrome)                                                            

        Miller Syndrome (Wilms Aniridia Syndrome; WAGR Syndrome; Wilms Tumor-Aniridia- Genitourinary Abnormalities-Mental Retardation Syndrome)                                                             General: Etiology unknown; manifests an asso [...]

        Relapsing polychondritis (jaksch wartenhost syndrome; meyenburg-altherz-vehlinger syndrome; von meyenberg ii syndrome)                                                                                           

        Relapsing Polychondritis (Jaksch Wartenhost Syndrome; Meyenburg-Altherz-Vehlinger Syndrome; n Meyenberg II Syndrome)                                                                                            General: Episodic, yet genera [...]

        Kufs disease (adult chronic gm2 gangliosidosis; gangliosidosis gm2 adult type; hallervorden-kufs syndrome)                                                                                                                                                  6

        Kufs Disease (Adult Chronic GM2 Gangliosidosis; Gangliosidosis GM2 Adult Type; Hallerrden-Kufs Syndrome)                                                                                                                                               [...]

        Nelson syndrome                                                                                                                                      

        Nelson Syndrome                                                                                                                                       General: Caused by elevated, incompletely suppressible, or nonsuppressible lels of circul [...]

        Foramen lacerum syndrome (aneurysm of internal carotid artery syndrome)                            

        Foramen Lacerum Syndrome (Aneurysm of Internal Carotid Artery Syndrome)                             General: Most commonly caused by congenital aneurysm involng the intradural portion of the carotid artery. Ocular: Periorbital pain; p [...]

        Rheumatoid arthritis (adult)                                                                                                                

        Rheumatoid Arthritis (Adult)                                                                                                                 General: Systemic disease of unknown cause; more common in women (3:1); thought to ha a strong aut [...]

        Familial juvenile nephronophthisis (medullary cystic disease)                                                           4

        Familial Junile Nephronophthisis (Medullary Cystic Disease)                                                           4 General: Number of closely related renal disorders are associated with tapetoretinal degeneration; cause unknown. Oc [...]

        Spastic quadriplegia, retinitis pigmentosa, mental retardation                                                        1

        Spastic Quadriplegia, Retinitis Pigmentosa, Mental Retardation                                                        1 General: Autosomal recessi; consanguineous parents. Ocular: Granular pigmented retina; pale optic disk; retinal degen [...]

        Petzetakis-takos syndrome (phlyctenular keratoconjunctivitis)                                                        

        Petzetakis-Takos Syndrome (Phlyctenular Keratoconjunctitis)                                                         General: Malnutrition; lack of hygiene. Ocular: Superficial keratitis; palpebral edema; cornea hyperesthesia; photophobi [...]

        Russell syndrome                                                                                                                                     1

        Russell Syndrome                                                                                                                                     1 General: Onset between 3 months and 2 years; caused by tumors of the anterior portion of th [...]

        A esotropia syndrome

        A Esotropia Syndrome                                                                                                                                    Esotropia greater looking up by 15 prism diopters than looking down; an oraction of sup [...]

        Pericentric syndrome (pericentric inversion of chromosome 11)                                                       

        Pericentric Syndrome (pericentric Inrsion of Chromosome 11)                                                        General: Etiology unknown; leukocyte chromosomes show a pericentric inrsion of chromosome 11. Ocular: Strabismus; [...]

        Jansen disease (metaphyseal dysostosis)                                                                                                

        Jansen Disease (Metaphyseal Dysostosis)                                                                                                 General: Affects both sexes; etiology unknown; autosomal dominant. Ocular: Exophthalmos. Clinical: M [...]

        Cerebellar ataxia, infantile, with progressive external ophthalmoplegia                                          220

        Cerebellar Ataxia, Infantile, with Progressi External Ophthalmoplegia                            &nbs [...]

        Dialinas-amalric syndrome (amalric-dialinas syndrome; deaf mutism-retinal degeneration syndrome)                                                                                                                                                  365

        Dialinas-Amalric Syndrome (Amalric-Dialinas Syndrome; Deaf Mutism-Retinal Degeneration Syndrome)                         [...]

        Outer retinal ischemic infarction syndrome                                                                                        

        Outer Retinal Ischemic Infarction Syndrome                                                                                         General: Complication that may occur during the course of cataract extraction or closed trectomy due to obst [...]

        Tay-sachs syndrome (norman-wood syndrome; familial amaurotic idiocy; gangliosidosis gm2 type 1; hexosaminidase deficiency)                                                                                                      1

        Tay-Sachs Syndrome (Norman-Wood Syndrome; Familial Amaurotic Idiocy; Gangliosidosis GM2 Type 1; Hexosaminidase Deficiency)                                                                                                      1 General: Simil [...]

        Dollinger-bielschowsky syndrome (jansky-bielschowsky syndrome; infantile amaurotic familial idiocy [late]; infantile ganglioside lipidosis [late]; bielschowsky-jansky disease)                         378

        Dollinger-Bielschowsky Syndrome (Jansky-Bielschowsky Syndrome; Infantile Amaurotic Familial Idiocy [Late]; Infantile Ganglioside Lipidosis [Late]; Bielschowsky-Jansky Disease)           [...]

        Craniopharyngioma                                                                                                                                  316

        Craniopharyngioma                                        [...]

        Charge association (multiple congenital anomalies syndrome; coloboma, heart disease, atresia, retarded growth, genital hypoplasia, ear malformation association)                                             232

        Charge Association (Multiple Congenital Anomalies Syndrome; Coloboma, Heart Disease, Atresia, Retarded Growth, Genital Hypoplasia, Ear Malformation Association)            &nb [...]

        Turner syndrome (turner-albright syndrome; gonadal dysgenesis; genital dwarfism syndrome; ullrich-turner syndrome; bonnevie-ullrich syndrome; pterygolymphangiectasia syndrome; ullrich-bonnevie syndrome)                                                                                                                               

        Turner Syndrome (Turner-Albright Syndrome; Gonadal Dysgenesis; Genital Dwarfism Syndrome; Ullrich-Turner Syndrome; Bonnee-Ullrich Syndrome; Pterygolymphangiectasia Syndrome; Ullrich-Bonnee Syndrome)                                             [...]

        T

        T Takayasu Syndrome (Martorell Syndrome; Aortic Arch Syndrome; Pulseless Disease; Rersed Coarctation Syndrome)                                                                                                                           1 [...]

        Jadassohn-lewandowsky syndrome (pachyonychia congenita)                                                        

        Jadassohn-Lewandowsky Syndrome (Pachyonychia Congenita)                                                         General: Autosomal dominant inheritance; three riants: type I has symmetric keratoses of hands and feet and follicular keratos [...]

        Frenkel syndrome (ocular contusion syndrome; anterior segment traumatic syndrome)           4

        Frenkel Syndrome (Ocular Contusion Syndrome; Anterior Segment Traumatic Syndrome)           4 General: Minor blunt trauma to the anterior segment of the globe. Ocular: Sluggish pupil reaction; traumatic mydriasis; iris dialysis; hea [...]

        Narp syndrome                                                                                                                                      

        NARP Syndrome                                                                                                                                       General: Neurogenic weakness (N), ataxia (A), and retinitis pigmentosa (RP) syndrome. Ocul [...]

        Anterior spinal artery syndrome

        Anterior Spinal Artery Syndrome (ntral Medullary Syndrome; Myelomalacia Syndrome;  Beck Syndrome; Medullary Syndrome)                                                                                                                                   [...]

        Neuronal ceroid lipofuscinosis (neuronal intranuclear inclusion disease; niid)                            8

        Neuronal Ceroid Lipofuscinosis (Neuronal Intranuclear Inclusion Disease; NIID)                            8 General: Probably autosomal recessi. Ocular: Nystagmus; sluggish pupil reaction; restricted ocular moments; optic disk pallor; [...]

        Amblyopic schoolgirl syndrome

        Amblyopic Schoolgirl Syndrome                                                                                                                    General: Etiology unknown. Ocular: Amblyopia; changes in sual fields; abnormal dark adaptati [...]

        Pilodental dysplasia with refractive errors (euhidrotic ectodermal dysplasia; trichodental dysplasia with hyperopia)                                                                                                                       

        Pilodental Dysplasia with Refracti Errors (Euhidrotic Ectodermal Dysplasia; Trichodental Dysplasia with Hyperopia)                                                                                                                        Gen [...]

        Foix syndrome (cavernous sinus syndrome; hypophyseal-sphenoidal syndrome; cavernous sinus neuralgia syndrome; godtfredsen syndrome; cavernous sinus-nasopharyngeal tumor syndrome; cavernous sinus thrombosis)                                                                                                                  4

        Foix Syndrome (Carnous Sinus Syndrome; Hypophyseal-Sphenoidal Syndrome; Carnous Sinus Neuralgia Syndrome; Godtfredsen Syndrome; Carnous Sinus-Nasopharyngeal Tumor Syndrome; Carnous Sinus Thrombosis)                                          [...]

        Floppy eyelid syndrome                                                                                                                           4

        Floppy Eyelid Syndrome                                                                                                                           4 General: Origin unknown; more common in males; orweight; X-chromosome-linked inheritance pat [...]

        Staphylococcus                                                                                                                                        

        Staphylococcus                                                                                                                                         General: Gram-positi coccus Staphylococcus aureus; most common cause of suppurati infe [...]

        Cornea plana                                                                                                                                              295

        Cornea a                                       &nbs [...]

        Wegener syndrome (wegener granulomatosis)                                                                                   1

        Wegener Syndrome (Wegener Granulomatosis)                                                                                   1 General: Etiology unknown; occurs in fourth and fifth decades of life; persistent rhinitis or sinusitis; three chara [...]

        Werner syndrome (progeria of adults)                                                                                                 1

        Werner Syndrome (progeria of Adults)                                                                                                 1 General: Etiology unknown; recessi inheritance; consanguinity; second and third decades; possible mechani [...]

        Aniridia

        Aniridia                                                                                                                                                           6 General: Hereditary, recessi (two thirds of cases), can be dominant, sporad [...]

        Wiskott-aldrich syndrome                                                                                                                     1

        Wiskott-Aldrich Syndrome                                                                                                                     1 General: Sex-linked recessi; early infancy with death in the first decade of life; abnormal immun [...]

        Glaucoma, congenital                                                                                                                              

        Glaucoma, Congenital                                                                                                                               General: Autosomal recessi; occurs more frequently in males; can occur isolated or associate [...]

        Clivus edge syndrome                                                                                                                              254

        Clis Edge Syndrome                                      &n [...]

        O

        O Obesity-Cerebral-Ocular-Skeletal Anomalies Syndrome                                                                       General: Rare, autosomal recessi disease; similar to Prader-Willi and Laurence-Moon-Bardet-Biedl syndrom [...]

        Ml i (mucolipidosis i; lipomucopolysaccharidosis; dysmorphic sialidosis; spranger syndrome) 

        ML I (Mucolipidosis I; Lipomucopolysaccharidosis; Dysmorphic Sialidosis; Spranger Syndrome)  General: Rare storage disease; autosomal recessi; increased sialic acid and deficiency of the enzyme alpha-N-acetylneuraminidase in cultured muco [...]

        Cataract, membranous                                                                                                                             210

        Cataract, Membranous                                      &n [...]

        Ring dermoid syndrome                                                                                                                        1

        Ring Dermoid Syndrome                                                                                                                        1 General: Autosomal dominant; usually bilateral. Ocular: Dermoid choristoma; conjunctil plaques [...]

        General fibrosis syndrome (congenital enophthalmos with ocular muscle fibrosis and ptosis; congenital fibrosis of the inferior rectus with ptosis; strabismus fixus; vertical retraction syndrome (congenital fibrosis syndrome )                                                                                           

        General Fibrosis Syndrome (Congenital Enophthalmos with Ocular Muscle Fibrosis and Ptosis; Congenital Fibrosis of the Inferior Rectus with Ptosis; Strabismus Fixus; rtical Retraction Syndrome (Congenital Fibrosis Syndrome )                    [...]

        Trisomy 8 mosaicism syndrome                                                                                                             1

        Trisomy 8 Mosaicism Syndrome                                                                                                             1 General: Chromosomally abnormal cell line with each cell containing an extra chromosome 8; other cell l [...]

        Herrick syndrome (dresbach syndrome; sickle cell disease; drepanocytic anemia)                      5

        Herrick Syndrome (Dresbach Syndrome; Sickle Cell Disease; Drepanocytic Anemia)                      5 General: Usually occurs in members of the black race; poor prognosis. Ocular: Secondary glaucoma; telangiectasis of conjunctival ssels; [...]

        Francois (2) dystrophy (francois-evens syndrome; speckled corneal dystrophy)                          4

        Francois (2) Dystrophy (Francois-Ens Syndrome; Speckled Corneal Dystrophy)                          4 General: Etiology unknown; congenital; nonprogressi; autosomal dominant, but sporadic cases ha been reported. Ocular: Corneal dyst [...]

        Metaphyseal chondrodysplasia with retinitis pigmentosa                                                                    7

        Metaphyseal Chondrodysplasia with Retinitis Pigmentosa                                                                    7 General: Autosomal recessi. Ocular: Retinitis pigmentosa. Clinical: Defecti cartilage and growth of long bone [...]

        Oculopharyngeal syndrome (progressive muscular dystrophy with ptosis and dysphagia; oculopharyngeal muscular dystrophy)                                                                                                 

        Oculopharyngeal Syndrome (progressi Muscular Dystrophy with Ptosis and Dysphagia; Oculopharyngeal Muscular Dystrophy)                                                                                                  General: Etiology unkn [...]

        Hemochromatosis                                                                                                                                      

        Hemochromatosis                                                                                                                                       General: Iron meolism disorder; genetically determined, but mode of inheritance unknown; [...]

        Klippel-feil syndrome (congenital brevicollis; synostosis of cervical vertebra)                              6

        Klippel-Feil Syndrome (Congenital Brevicollis; Synostosis of Cervical Vertebra)                              6 General: Autosomal recessi inheritance; females more commonly affected; progressi paraplegia may delop late in life. Ocul [...]

        Hamman-rich syndrome (alveolar capillary block syndrome; diffuse pulmonary fibrosis syndrome; rheumatoid lung syndrome)                                                                                                                  5

        Hamman-Rich Syndrome (Alolar Capillary Block Syndrome; Diffuse Pulmonary Fibrosis Syndrome; Rheumatoid Lung Syndrome)                                                                                                                  5 General [...]

        Sotos syndrome (cerebral gigantism)                                                                                                 

        Sotos Syndrome (Cerebral Gigantism)                                                                                                  General: Idiopathic disturbance of the diencephalon; etiology unknown; cerebral gigantism in childhood, Russ [...]

        Trisomy di syndrome (trisomy 13; patau syndrome; reese syndrome)                                         1

        Trisomy DI Syndrome (Trisomy 13; Patau Syndrome; Reese Syndrome)                                         1 General: Extra chromosome in the D group; fatal in first few months of life; trisomy 13-l5 resembles trisomy D1. Ocular: Anophthalm [...]

        Westphal-strumpell disease (pseudosclerosis of basal ganglion)                                                       1

        Westphal-Strumpell Disease (Pseudosclerosis of Basal Ganglion)                                                       1 General: Part of Wilson disease; mostly in men; onset at ages 11 to 25 years (see Wilson Disease). Ocular: Brown-yellow [...]

        Onchocerciasis syndrome (river blindness; onchocerca volvulus infestation)                                

        Onchocerciasis Syndrome (Rir Blindness; Onchocerca Volvulus Infestation)                                 General: Nematode infestation; positi diagnosis made with microfilariae from a skin biopsy and the presence of microfilariae in ant [...]

        Ocular toxoplasmosis (toxoplasmic retinochoroiditis; toxoplasmosis)                                             

        Ocular Toxoplasmosis (Toxoplasmic Retinochoroiditis; Toxoplasmosis)                                              General: Parasite infestation caused by Toxoplasma gondii; cell-mediated immunity is belied to be the major defense mechanism [...]

        Hutchinson syndrome (adrenal cortex neuroblastoma with orbital metastasis; pepper syndrome)

        Hutchinson Syndrome (Adrenal Cortex Neuroblastoma with Orbital Metastasis; Pepper Syndrome) General: Metastatic infraorbital neuroblastoma after hematogenous dissemination of primary tumor; occurs in infants and children up to age 6 years; [...]

        Cataract, posterior polar                                                                                                                          215

        Cataract, Posterior Polar                                     &nb [...]

        Vitreous tug syndrome (vitreous wick syndrome)                                                                            1

        treous Tug Syndrome (treous Wick Syndrome)                                                                            1 General: treous strand passes through the pupillary space and becomes attached or incarcerated in a corneal wound ei [...]

        Happy puppet syndrome (puppet children)                                                                                         

        Happy Puppet Syndrome (Puppet Children)                                                                                          General: Etiology unknown; ry rare form of infantile epilepsy. Ocular: Optic atrophy; deficiency of choroida [...]

        Albright syndrome

        Albright Syndrome (Fuller Albright Syndrome; Jaffe-Lichtenstein Syndrome; McCune-Albright  Syndrome; Osteitis Fibrosa Disseminata; Osteodystrophia Fibrosa; Polyostotic Fibrous Dysplasia;  Fibrous Dysplasia) General: Etiology unknown; diseas [...]

        Bacillus cereus

        Bacillus Cereus                                                                                                                                                 General: Highly rulent pathogen; most common contaminant of drug injection para [...]

        Lissencephaly syndrome (miller-dieker syndrome)                                                                             

        Lissencephaly Syndrome (Miller-Dieker Syndrome)                                                                              General: Autosomal recessi; consanguinity; association with deletion of the LIS1 gene located at chromosome 17p13. [...]

        Brown-sequard syndrome                                                                                                                       178

        Brown-Sequard Syndrome                                       [...]

        Burnett syndrome (milk drinker syndrome; milk-alkali syndrome)                                                183

        Burnett Syndrome (Milk Drinker Syndrome; Milk-Alkali Syndrome)                              & [...]

        Duane syndrome (retraction syndrome; stilling syndrome; turk-stilling syndrome)                    388

        Duane Syndrome (Retraction Syndrome; Stilling Syndrome; Turk-Stilling Syndrome)                    388 General: Autosomal dominant; more [...]

        Locked-in syndrome                                                                                                                                

        Locked-In Syndrome                                                                                                                                 General: Usually caused by extensi pontine hemorrhage; awake but paralyzed patient; unable t [...]

        9p- syndrome                                                                                                                                            

        9p- Syndrome                                                                                                                                             General: Congenital mental retardation syndrome due to a 9p deletion. Ocular: Mongoloi [...]

        Hypertrichosis cubiti (hairy elbow syndrome)                                                                                    

        Hypertrichosis Cubiti (Hairy Elbow Syndrome)                                                                                     General: Autosomal dominant; occurs in childhood and regresses spontaneously in puberty; long llus hair on ext [...]

        Branched-chain ketoaciduria (maple syrup urine disease)                                                               171

        Branched-Chain Ketoaciduria (Maple Syrup Urine Disease)                               &n [...]

        Optic atrophy, cataract, and neurologic disorder                                                                              

        Optic Atrophy, Cataract, and Neurologic Disorder                                                                               General: Autosomal dominant; similar to syndromes of Behr, Marinesco, Sjögren, and Friedreich, which are autosomal [...]

        Lymphedema                                                                                                                                             

        Lymphedema                                                                                                                                              General: Abnormal accumulation of lymph in the extremities; occurs from multiple causes. [...]

        Alstrom disease (cataract and retinitis pigmentosa)

        Alstrom Disease (Cataract and Retinitis Pigmentosa)                                                                                  General: Retinal lesion associated with deafness; severe sual loss in the first decade. Ocular: Cataract; [...]

        Ataxia, spastic, with congenital miosis

        Ataxia, Spastic, with Congenital Miosis General: Autosomal dominant. Ocular: Congenital miosis; nystagmus; small, nonreacting pupils. Clinical: Symmetrical ataxia of gait and limb moment; dysarthria; late in walking; slurred speech; i [...]

        Optic atrophy, nerve deafness                                                                                                               

        Optic Atrophy, Ner Deafness                                                                                                                General: Autosomal recessi. Ocular: Degeneration of optic ners. Clinical: Degeneration of t [...]

        Angular conjunctivitis (morax-axenfeld bacillus)

        Angular Conjunctitis (Morax-Axenfeld Bacillus)                                                                                      General: Caused by Moraxella lacunata, which frequently inhabits the nose. Ocular: Conjunctitis; hypop [...]

        Epidermal nevus syndrome (ichthyosis hystrix)                                                                                  

        Epidermal Nes Syndrome (Ichthyosis Hystrix)                                                                                   General: One or a combination of the following epidermal nevi described as nes unius lateris, ichthyosis hystr [...]

        Ophthalmoplegia, progressive external, with scrotal tongue and mental deficiency                      

        Ophthalmoplegia, Progressi External, with Scrotal Tongue and Mental Deficiency                       General: Autosomal dominant. Ocular: Progressi external ophthalmoplegia; progressi chorioretinal sclerosis; bilateral ptosis; conv [...]

        Cogan (2) syndrome (oculomotor apraxia syndrome; wieacker syndrome)                                    263

        Cogan (2) Syndrome (Oculomotor Apraxia Syndrome; Wieacker Syndrome)                             &nbs [...]

        Herpes simplex masquerade syndrome                                                                                                 

        Herpes Simplex Masquerade Syndrome                                                                                                  General: Acanthamoeba keratitis occurs in those who wear soft contact lenses daily; confused with herpes simp [...]

        Sclerocornea                                                                                                                                             1

        Sclerocornea                                                                                                                                             1 General: Autosomal dominant; feature of cornea a. Ocular: Malformation of cornea; ind [...]

        Listerellosis (listeriosis)                                                                                                                            

        Listerellosis (Listeriosis)                                                                                                                             General: Caused by Gram-positi bacillus Listeria monocytogenes. High mortality among pr [...]

        Alcoholism

        Alcoholism                                                                                                                                                        General: Classified into three groups; symptoms of mental disease, physiologic [...]

        Debarsy syndrome                                                                                                                                    347

        DeBarsy Syndrome                                        [...]

        Multiple lentigines syndrome (leopard syndrome)                                                                       

        Multiple Lentigines Syndrome (LEOPARD Syndrome)                                                                        General: Familial occurrence; classic features include lentigines (small focal hyperpigmentations of skin), electrocardiog [...]

        Partial trisomy 16q syndrome                                                                                                                

        Partial Trisomy 16q Syndrome                                                                                                                 General: Partial trisomy 16q with chromosome banding; rare. Ocular: Narrow palpebral fissures; ant [...]

        Meb disease (muscle-eye-brain disease)                                                                                               7

        MEB Disease (Muscle-Eye-Brain Disease)                                                                                               7 General: Autosomal recessi; possibly the same as Walker-Warburg syndrome. Ocular: Sere congenital myop [...]

        Oguchi disease                                                                                                                                          

        Oguchi Disease                                                                                                                                           General: Autosomal recessi; usually Japanese; form of congenital hemeralopia; one form [...]

        Lowe syndrome (oculo-cerebro-renal syndrome)                                                                             

        Lowe Syndrome (Oculo-Cerebro-Renal Syndrome)                                                                              General: Essential enzyme or protein abnormality is unknown; sex-linked recessi trait (male incidence only); onset in [...]

        Saint anthony fire (erysipelas)                                                                                                             1

        Saint Anthony Fire (Erysipelas)                                                                                                             1 General: Acute localized inflammation of the skin and subcutaneous tissue; erysipelas is a febrile i [...]

        Irvine syndrome (irvine-gass syndrome; hruby-irvine-gass syndrome)                                         

        Irne Syndrome (Irne-Gass Syndrome; Hruby-Irne-Gass Syndrome)                                          General: Failing sion after uneventful cataract extraction; caused by spontaneous rupture of treous face with treous adhesions [...]

        Tritanomalous color blindness (color blindness, partial tritanomaly)                                            1

        Tritanomalous Color Blindness (Color Blindness, Partial Tritanomaly)                                            1 General: Sex-linked; rare; lacking blue and yellow sensory mechanisms while retaining those for red and green. Ocular: Blue- [...]

        Palpebral coloboma-lipoma syndrome (nasopalpebral lipoma-coloboma)                                   

        Palpebral Coloboma-Lipoma Syndrome (Nasopalpebral Lipoma-Coloboma)                                    General: Autosomal dominant; described in a nezuelan family. Ocular: Coloboma of upper and lower lids at junction between their middle [...]

        Ocular dominance                                                                                                                                    

        Ocular Dominance                                                                                                                                     General: Autosomal dominant; 97% of people with normal vision ha a sighting-dominant eye; [...]

        Mort d'amour syndrome (death of love syndrome)                                                                          

        Mort d'Amour Syndrome (Death of Lo Syndrome)                                                                           General: Sudden death during sexual intercourse. Ocular: Pupillary dilation. Clinical: Hypertension; arrhythmia; he [...]

        Morquio syndrome (morquio-brailsford syndrome; brailsford-morquio dystrophy; familial osseous dystrophy; keratosulfaturia; mps iv; mucopolysaccharidosis iv; spondyloepiphyseal dysplasia; osteochondrodystrophia deformans; infantile hereditary chondrodysplasia; hereditary poly topic enchondral dysostosis; hereditary osteochondrodystrophy; eccentro-osteochondrodysplasia; dysostosis enchondralis meta- epiphysaria; morquio-ullrich syndrome; atypical chondrodystrophy; chondrodystrophia tarda; chondro-osteodystrophy)                                                                        

        Morquio Syndrome (Morquio-Brailsford Syndrome; Brailsford-Morquio Dystrophy; Familial Osseous Dystrophy; Keratosulfaturia; MPS I Mucopolysaccharidosis I Spondyloepiphyseal Dysplasia; Osteochondrodystrophia Deformans; Infantile Hereditary Chond [...]

        Bang disease (brucellosis; malta fever; mediterranean fever; pig breeder disease; gibraltar fever; undulant fever)

        Bang Disease (Brucellosis; Malta Fer; Mediterranean Fer; Pig Breeder Disease; Gibraltar  Fer; Undulant Fer) General: Transmitted to man from animals or animal products containing bacteria of the genus Brucella; human infection resul [...]

        Leigh syndrome (subacute necrotizing encephalomyelopathy; infantile subacute necrotizing encephalomyelopathy; hyperpyruvicemia with hyper-alpha-alaninemia; gangliosidosis gm2 type 3)      

        Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy; Infantile Subacute Necrotizing Encephalomyelopathy; Hyperpyruvicemia with Hyper-Alpha-Alaninemia; Gangliosidosis GM2 Type 3)       General: Autosomal recessi; meolic disease oc [...]

        Oculorenocerebellar syndrome (orc syndrome)                                                                                

        Oculorenocerebellar Syndrome (ORC Syndrome)                                                                                 General: Autosomal recessi. Ocular: Progressi tapetoretinal degeneration with loss of retinal ssels. Clini [...]

        Nieden syndrome (telangiectasia-cataract syndrome)                                                                        8

        Nieden Syndrome (Telangiectasia-Cataract Syndrome)                                                                        8 General: Etiology unknown; familial occurrence; onset from birth. Ocular: Sparse eyebrows; glaucoma; dyscoria; defec [...]

        Ocular myopathy with curare sensitivity                                                                                              

        Ocular Myopathy with Curare Sensitity                                                                                               General: Autosomal recessive. Ocular: Static ophthalmoparesis. Clinical: Limb weakness; sensitity to [...]

        Paine syndrome                                                                                                                                        

        Paine Syndrome                                                                                                                                         General: Microcephaly-spastic diplegia; occurs only in males; onset from birth; sex-linked [...]

        Beta-glucuronidase deficiency (mucopolysaccharidosis vii; mps vii)                                             142

        Beta-Glucuronidase Deficiency (Mucopolysaccharidosis I; MPS I)                             &nb [...]

        Anemia

        Anemia                                                                                                                                                              General: Ocular complications generally only seen in sere anemia. Ocular: [...]

        Guillain-barré syndrome (landry paralysis; acute infectious neuritis; acute polyradiculitis; acute febrile polyneuritis; acute idiopathic polyneuritis; inflammatory polyradiculoneuropathy; landry-guillain-barré-strohl syndrome; postinfectious polyneuritis)                                                                            

        Guillain-Barré Syndrome (Landry Paralysis; Acute Infectious Neuritis; Acute Polyradiculitis; Acute Febrile Polyneuritis; Acute Idiopathic Polyneuritis; Inflammatory Polyradiculoneuropathy; Landry-Guillain-Barré-Strohl Syndrome; Postinfectious Po [...]

        Hyperlipoproteinemia                                                                                                                               

        Hyperlipoproteinemia                                                                                                                                General: Meolic disorder characterized by abnormally eleted concentrations of specific [...]

        Coccidioidomycosis                                                                                                                                    259

        Coccidioidomycosis                                      &nbs [...]

        Linear nevus sebaceus of jadassohn (nevus sebaceus of jadassohn; jadassohn-type anetoderma; organoid nevus syndrome; sebaceus nevus syndrome )                                                                      

        Linear Nes Sebaceus of Jadassohn (Nes Sebaceus of Jadassohn; Jadassohn-Type Anetoderma; Organoid Nes syndrome; Sebaceus nes syndrome )                                                                       General: Skin nes caused [...]

        Kuru syndrome (laughing death)                                                                                                         

        Kuru Syndrome (Laughing Death)                                                                                                          General: Restricted to Fore tribe of eastern New Guinea; prelent in children and adult women; etiology [...]

        Felty syndrome (chauffard-still syndrome; primary splenic neutropenia with arthritis; rheumatoid arthritis with hypersplenism; still-chauffard syndrome; uveitis-rheumatoid arthritis syndrome) 4

        Felty Syndrome (Chauffard-Still Syndrome; Primary Splenic Neutropenia with Arthritis; Rheumatoid Arthritis with Hypersplenism; Still-Chauffard Syndrome; Uitis-Rheumatoid Arthritis Syndrome) 4 General: Etiology not fully understood, possibl [...]

        Kohn-romano syndrome (bpes syndrome)                                                                                         6

        Kohn-Romano Syndrome (BPES Syndrome)                                                                                         6 General: Autosomal dominant transmittance; tetrad with telecanthus, ptosis, epicanthus inrsus, and blepharophimos [...]

        Sphenomaxillary fossa syndrome (pterygopalatine fossa syndrome)                                             

        Sphenomaxillary Fossa Syndrome (Pterygopalatine Fossa Syndrome)                                              General: Malignant tumor, second division of which involves the sphenopalatine fossa, causing paralysis of cranial nerve similar [...]

        Facio-scapulo-humeral muscular dystrophy (fsh muscular dystrophy)                                        

        Facio-Scapulo-Humeral Muscular Dystrophy (FSH Muscular Dystrophy)                                         General: Autosomal dominant disorder; onset ries from infancy to old age; severity ries from scarcely detecle to incapacitating [...]

        Fanconi syndrome (toni-fanconi syndrome; amino diabetes; hypochloremic-glycosuric osteonephropathy syndrome; de toni-fanconi syndrome)                                                               

        Fanconi Syndrome (Toni-Fanconi Syndrome; Amino Diabetes; Hypochloremic-Glycosuric Osteonephropathy Syndrome; De Toni-Fanconi Syndrome)                                                                General: Autosomal recessi inheritance; [...]

        Menkes (2) syndrome (kinky hair syndrome)                                                                                      7

        Menkes (2) Syndrome (Kinky Hair Syndrome)                                                                                      7 General: Etiology unknown; sex-linked recessi neurodegenerati disorder; focal cerebral and cerebellar degener [...]

        Glaucoma with elevated episcleral venous pressures                                                                          

        Glaucoma with Elevated Episcleral Venous Pressures                                                                           General: Autosomal dominant. Ocular: Open-angle glaucoma; elevated episcleral nous pressure; dilated episcleral [...]

        Nager syndrome (nager acrofacial dyostosis)                                                                                      

        Nager Syndrome (Nager Acrofacial Dyostosis)                                                                                       General: Rare congenital syndrome characterized by mandibulofacial dyostosis with associated radial defects. [...]

        Harlequin syndrome (bullous ichthyosiform erythroderma; collodion baby; congenital ichthyosis; epidermolytic hyperkeratosis; ichthyosis; ichthyosis vulgaris; lamellar ichthyosis; nonbullous ichthyosiform erythroderma; xeroderma; x-linked ichthyosis)                                                       

        Harlequin Syndrome (Bullous Ichthyosiform Erythroderma; Collodion Baby; Congenital Ichthyosis; Epidermolytic Hyperkeratosis; Ichthyosis; Ichthyosis lgaris; Lamellar Ichthyosis; Nonbullous Ichthyosiform Erythroderma; Xeroderma; X-Linked Ichthyosi [...]

        Saldino-mainzer syndrome                                                                                                                   

        Saldino-Mainzer Syndrome                                                                                                                    General: Autosomal recessi; Leber congenital amaurosis associated with familial junile nephronoph [...]

        Desert lung and cataract syndrome                                                                                                      362

        Desert Lung and Cataract Syndrome                                    & [...]

        Aniridia and absent patella

        Aniridia and Absent Patella                                                                                                                            General: Autosomal dominant; rare. Ocular: Absence of iris; cataracts; glaucoma. Clin [...]

        Protein c deficiency                                                                                                                               

        Protein C Deficiency                                                                                                                                General: Autosomal recessive; congenital; heterozygous indiduals predisposed to recurrent v [...]

        Bullous ichthyosiform erythroderma (collodion baby; congenital ichthyosis; epidermolytic hyperkeratosis; ichthyosis; ichthyosis vulgaris; lamellar ichthyosis; nonbullous ichthyosiform erythroderma; xeroderma; x-linked ichthyosis)                                                                                                                                 182

        Bullous Ichthyosiform Erythroderma (Collodion Baby; Congenital Ichthyosis; Epidermolytic Hyperkeratosis; Ichthyosis; Ichthyosis lgaris; Lamellar Ichthyosis; Nonbullous Ichthyosiform Erythroderma; Xeroderma; X-Linked Ichthyosis) [...]

        Gout (hyperuricemia)                                                                                                                              

        Gout (Hyperuricemia)                                                                                                                               General: Genetic disease of purine meolism and renal excretion of uric acid. Ocular: Conj [...]

        Ophthalmoplegic migraine syndrome                                                                                                    

        Ophthalmoplegic Migraine Syndrome                                                                                                     General: Symptoms produced by ipsilateral herniation of hippocampal gyrus of temporal lobe through incisura [...]

        Marcus gunn syndrome (jaw-winking syndrome; congenital trigeminooculomotor synkinesis)

        Marcus Gunn Syndrome (Jaw-Winking Syndrome; Congenital Trigeminooculomotor Synkinesis) General: Familial occurrence rare, although dominant inheritance has been reported; symptoms caused by abnormal connections between external pterygoid m [...]

        Cystic fibrosis syndrome (fibrocystic disease of pancreas)                                                                 339

        Cystic Fibrosis Syndrome (Fibrocystic Disease of Pancreas)                               & [...]

        Rhinoscleroma (klebsiella rhinoscleromatis)                                                                                      

        Rhinoscleroma (Klebsiella Rhinoscleromatis)                                                                                       General: Chronic granulomatous disease; Gram-negati bacillus; cicatricial deformities; chronic progressi gr [...]

        Paragonimiasis (distomiasis; endemic hemoptysis)                                                                              

        Paragonimiasis (Distomiasis; Endemic Hemoptysis)                                                                               General: Chronic lung infection; causati agent is Paragonimus trematode; transmitted by eating undercooked crabs [...]

        Pallister-killian syndrome (pks; mosaic tetrasomy)                                                                          

        Pallister-Killian Syndrome (PKS; Mosaic Tetrasomy)                                                                           General: riable condition caused by a mosaic tetrasomy of chromosome 12p. Ocular: Reported manifestations includ [...]

        Arylsulfatase a deficiency

        Arylsulfatase A Deficiency (Metachromatic Leukodystrophy; Sulfatide Lipoidosis Syndrome;  Greenfield Disease; Scholz Syndrome; Scholz-Bielschowsky-Henneberg Syndrome; n  Bogaert-Nyssen Disease;  n Bogaert-Nyssen-Peiffer Disease; Familial Progr [...]

        Scheie syndrome (mucopolysaccharidosis is; mps is; mps v; mucopolysaccharidosis v)          

        Scheie Syndrome (Mucopolysaccharidosis IS; MPS IS; MPS V; Mucopolysaccharidosis V)           General: Autosomal recessive; chondroitin sulfate B excreted in excess in the urine; formerly MPS (see Hurler Syndrome; Hunter Syndrome; Sanfilip [...]

        Spinocerebellar degeneration and corneal dystrophy (corneal cerebellar syndrome; corneal dystrophy with spinocerebellar degeneration)                                                                                                      

        Spinocerebellar Degeneration and Corneal Dystrophy (Corneal Cerebellar Syndrome; Corneal Dystrophy with Spinocerebellar Degeneration)                                                                                                       Gene [...]

        Granuloma annulare                                                                                                                               

        Granuloma Annulare                                                                                                                                General: Benign; self-limited dermatosis; etiology unknown but reported to follow insect bites, [...]

        Morning glory syndrome (hereditary central glial anomaly of the optic disk)                            

        Morning Glory Syndrome (Hereditary Central Glial Anomaly of the Optic Disk)                             General: No hereditary factor; rare; anomaly of optic disk with deep excation resembling the flower for which syndrome is named. Oc [...]

        Spina bifida (rachischisis)                                                                                                                     

        Spina Bifida (Rachischisis)                                                                                                                      General: Defect of the bony spinal canal without defect of cord or meninges; myelocele sac conta [...]

        Xanthism (rufous albinism)                                                                                                                 

        Xanthism (Rufous Albinism)                                                                                                                  General: Autosomal recessi; occurs in blacks. Ocular: Lack of color in iris. Clinical: Bright [...]

        Hemifacial microsomia syndrome (unilateral facial agenesis; otomandibular dysostosis; francois-haustrate syndrome)                                                                                                                                                 

        Hemifacial Microsomia Syndrome (Unilateral Facial Agenesis; Otomandibular Dysostosis; Francois-Haustrate Syndrome)                                                                                                                                        [...]

        Laron syndrome                                                                                                                                       

        Laron Syndrome                                                                                                                                        General: Autosomal recessil; insulinelike growth factor I hormone resistance Ocular: M [...]

        Krause syndrome (congenital encephalo-ophthalmic dysplasia; encephalo-ophthalmic syndrome) 6

        Krause Syndrome (Congenital Encephalo-Ophthalmic Dysplasia; Encephalo-Ophthalmic Syndrome) 6 General: No hereditary factors invold; no predilection for either sex; more frequent in premature infants; death frequently from intercurrent infe [...]

        Parinaud oculoglandular syndrome (parinaud conjunctiva-adenitis syndrome; catscratch oculoglandular syndrome; catscratch disease; bartonella henselae)                                                

        Parinaud Oculoglandular Syndrome (Parinaud Conjuncti-Adenitis Syndrome; Catscratch Oculoglandular Syndrome; Catscratch Disease; Bartonella henselae)                                                 General: Most frequently seen in childre [...]

        Oculo-osteocutaneous syndrome                                                                                                            

        Oculo-Osteocutaneous Syndrome                                                                                                             General: Autosomal recessi. Ocular: Strabismus; myopia; distichiasis; nystagmus; lenticular opaciti [...]

        Acute follicular conjunctivitis (adenoviral conjunctivitis; pharyngoconjunctival fever; syndrome of beal)

        Acute Follicular Conjunctivitis (Adenoviral Conjunctivitis; Pharyngoconjunctival Fer;  Syndrome of Beal)                                                                                                                                                [...]

        Topless optic disk syndrome                                                                                                                

        Topless Optic Disk Syndrome                                                                                                                 General: Superior segmental optic hypoplasia. Ocular: Relati superior entrance of the central ret [...]

        Savin syndrome                                                                                                                                       1

        San Syndrome                                                                                                                                       1 General: Congenital ichthyosis combined with urticarial manifestations. Ocular: Nodular t [...]

        Blepharophimosis syndrome                                                                                                                    155

        Blepharophimosis Syndrome                                     &nb [...]

        Nystagmus blockage syndrome (nbs)                                                                                                    8

        Nystagmus Blockage Syndrome (NBS)                                                                                                    8 General: Congenital (see Ethan Syndrome, Primary; Ethan Syndrome Secondary; Nystagmus Compensation Syndrome [...]

        Cystinuria                                                                                                                                                   341

        Cystinuria                                         [...]

        West syndrome (massive myoclonia; jackknife convulsion)                                                             1

        West Syndrome (Massi Myoclonia; Jackknife Convulsion)                                                             1 General: Brain damage from trauma, anoxia, degenerati and meolic factors and infecti agents; onset in first year of [...]

        E

        E Eales Disease (Periphlebitis)                                  [...]

        Glucagonoma syndrome                                                                                                                          

        Glucagonoma Syndrome                                                                                                                           General: Alpha-cell islet tumor of pancreas with retrobulbar neuritis first sign and necrolytic mi [...]

        Histoplasmosis (histoplasmosis choroiditis; histoplasmosis maculopathy; presumed ocular histoplasmosis syndrome)                                                                                                                         5

        Histoplasmosis (Histoplasmosis Choroiditis; Histoplasmosis Maculopathy; Presumed Ocular Histoplasmosis Syndrome)                                                                                                                         5 Gener [...]

        Grouped pigmentation of the macula                                                                                                     

        Grouped Pigmentation of the Macula                                                                                                      General: Autosomal recessi. Ocular: Grouped pigmentation limited to foal area; metamorphopsia; pigm [...]

        Facio-oculo-acoustico-renal syndrome                                                                                                

        Facio-Oculo-Acoustico-Renal Syndrome                                                                                                 General: Autosomal recessi. Ocular: Congenital myopia; undeloped filtration angle; persistent pupillar [...]

        Lecithin-cholesterol acyltransferase (lcat) deficiency                                                                    

        Lecithin-Cholesterol Acyltransferase (LCAT) Deficiency                                                                     General: LCAT enzyme invold in meolism of cholesterol deficiency; autosomal recessi; rare. Ocular: Cloudy co [...]

        Harboyan syndrome (congenital corneal dystrophy and sensorineural hearing loss; maumenee syndrome; corneal dystrophy, congenital hereditary endothelial)                                                                      

        Harboyan Syndrome (Congenital Corneal Dystrophy and Sensorineural Hearing Loss; Maumenee Syndrome; Corneal Dystrophy, Congenital Hereditary Endothelial)                                                                       General: Autosoma [...]

        Moynahan syndrome (xte; xeroderma, talipes, and enamel defect)                                             

        Moynahan Syndrome (XTE; Xeroderma, Talipes, and Enamel Defect)                                              General: Autosomal dominant inheritance; xeroderma, talipes, and enamel defect. Ocular: Absence of eyelashes of lower lid. Clin [...]

        Kenny syndrome                                                                                                                                       6

        Kenny Syndrome                                                                                                                                       6 General: Congenital syndrome. Ocular: Nanophthalmos with hyperopia; papilledema; scular [...]

        X-linked cone dysfunction syndrome                                                                                               

        X-Linked Cone Dysfunction Syndrome                                                                                                General: X-linked pattern of inheritance; stationary cone dysfunction Ocular: Myopia; sual loss; color s [...]

        Pediculosis and phthiriasis                                                                                                                       

        Pediculosis and Phthiriasis                                                                                                                        General: Infestation of lice on head, body, or pubic area. Ocular: Conjunctitis; keratitis [...]

        Trachoma                                                                                                                                                 1

        Trachoma                                                                                                                                                 1 General: Most common in rural communities of the Middle East, Africa, Asia, and South a [...]

        Galactosyl ceramide lipidosis (krabbe [1] syndrome; infantile globoid cell leukodystrophy; krabbe disease; globoid cell leukodystrophy)                                                                                                  4

        Galactosyl Ceramide Lipidosis (Krabbe [1] Syndrome; Infantile Globoid Cell Leukodystrophy; Krabbe Disease; Globoid Cell Leukodystrophy)                                                                                                  4 Genera [...]

        Ehlers-danlos syndrome (fibrodysplasia elastica generalisata; cutis hyperelastica; meekeren-ehlers-danlos syndrome; indian rubber man syndrome; cutis laxa)                                                                      400

        Ehlers-Danlos Syndrome (Fibrodysplasia Elastica Generalisata; Cutis Hyperelastica; Meekeren-Ehlers-Danlos Syndrome; Indian Rubber Man Syndrome; Cutis Laxa)              & [...]

        Congenital retinal nonattachment with mental retardation, osteoporosis, and hypotonia            285

        Congenital Retinal Nonattachment with Mental Retardation, Osteoporosis, and Hypotonia            285 General: Autosomal recessi; well-demarcated entity; affects both males and [...]

        Dragged-fovea diplopia syndrome                                                                                                         386

        Dragged-Foa Diplopia Syndrome                                    &nb [...]

        Keratodermia palmaris et plantaris (palmoplantar keratodermia; keratosis palmoplantaris)      

        Keratodermia Palmaris Et taris (Palmotar Keratodermia; Keratosis Palmotaris)       General: Autosomal recessi; hereditary disorder; diffuse or focal thickening of the palms and soles. Ocular: Hyperkeratosis of lid and cornea; ectro [...]

        Hyperkalemic familial periodic paralysis (adynamia episodica hereditaria)                                   

        Hyperkalemic Familial Periodic Paralysis (Adynamia Episodica Hereditaria)                                    General: Recurrent paralysis of skeletal muscles; occurs by age 10 years; usually occurs during the day when patient is sitting in [...]

        Oculo-osteocutaneous syndrome                                                                                                            

        Oculo-Osteocutaneous Syndrome                                                                                                             General: Autosomal recessi. Ocular: Strabismus; myopia; distichiasis; nystagmus; lenticular opaciti [...]

        Hemeralopia                                                                                                                                               5

        Hemeralopia                                                                                                                                               5 General: Autosomal dominant. Ocular: Complete loss of the outer quadrant of sual f [...]

        Klinefelter syndrome (gynecomastia-aspermatogenesis syndrome; xxy syndrome; xxxy syndrome; xxyy syndrome; reifenstein-albright syndrome)                                                                              6

        Klinefelter Syndrome (Gynecomastia-Aspermatogenesis Syndrome; XXY Syndrome; XXXY Syndrome; XXYY Syndrome; Reifenstein-Albright Syndrome)                                                                              6 General: Occurrence in 1% [...]

        Ophthalmoplegic retinal degeneration syndrome (barnard-scholz syndrome)                               

        Ophthalmoplegic Retinal Degeneration Syndrome (Barnard-Scholz Syndrome)                                General: Onset at all ages (see Kearns-Sayre Syndrome). Ocular: Unilateral or bilateral progressi weakness of muscles of eyelids, u [...]

        Klippel- trenaunay-weber syndrome (parkes-weber syndrome; angio-osteo-hypertrophy syndrome)   6

        Klippel- Trenaunay-Weber Syndrome (Parkes-Weber Syndrome; Angio-Osteo-Hypertrophy Syndrome)   6 General: Most frequently inherited as irregular dominant; hower, reported to be recessi with parent consanguinity; association of Klippel-Tre [...]

        Renal transplantation                                                                                                                            

        Renal Transtation                                                                                                                             General: Ocular complication due to systemic immunosuppressi drugs used to prent rejection of t [...]

        Neurilemoma (schwannoma; neurinoma)                                                                                             

        Neurilemoma (Schwannoma; Neurinoma)                                                                                              General: Slow-growing encapsulated neoplasm from the Schwann cells of ners; seen most frequently with patients [...]

        Slit ventricle syndrome                                                                                                                           1

        Slit Ventricle Syndrome                                                                                                                           1 General: Self limited episodes of shunt malfunction associated with a small or unchanged ntr [...]

        Pancoast syndrome (hare syndrome; superior pulmonary sulcus syndrome)                                

        Pancoast Syndrome (Hare Syndrome; Superior Pulmonary Sulcus Syndrome)                                 General: Mass occupying lesion in pulmonary apex; erosion of first three ribs frequent; primary bronchogenic carcinoma most frequent cause [...]

        Oculocerebral syndrome with hypopigmentation (amish oculocerebral syndrome; cross syndrome)                                                                                                                                       

        Oculocerebral Syndrome with Hypopigmentation (Amish Oculocerebral Syndrome; Cross Syndrome)                                                                                                                                        General: Aut [...]

        Fusobacterium                                                                                                                                            4

        Fusobacterium                                                                                                                                            4 General: Gram-negati; normal inhabitant of mouth and respiratory, intestinal, and uro [...]

        Parotid aplasia or hypoplasia (salivary gland absence; lacrimal puncta absence)                      

        Parotid Aplasia or Hypoplasia (Salivary Gland Absence; Lacrimal Puncta Absence)                       General: Autosomal dominant. Ocular: Lacrimal gland aplasia; absence or sere dysfunction of lacrimal glands. Clinical: Aplasia of [...]

        Shy-gonatas syndrome                                                                                                                           1

        Shy-Gonatas Syndrome                                                                                                                           1 General: Unknown etiology; similar to Hunter and Refsum syndromes; accumulation of lipids in musc [...]

        Haney-falls syndrome (congenital keratoconus posticus circumscriptus syndrome)                     5

        Haney-Falls Syndrome (Congenital Keratoconus Posticus Circumscriptus Syndrome)                     5 General: Etiology unknown; autosomal dominant or recessi. Ocular: Hypertelorism (mild); lateral canthi are displaced upward; myopic ast [...]

        Myopia-ophthalmoplegia syndrome                                                                                                      

        Myopia-Ophthalmoplegia Syndrome                                                                                                       General: Sex-linked; characteristics seen in males; carried by females. Ocular: Ptosis; myopia; complete [...]

        Bee sting of the eye (bee sting of the cornea)                                                                                       132

        Bee Sting of the Eye (Bee Sting of the Cornea)                                   [...]

        Cardiac myxomas                                                                                                                                      198

        Cardiac Myxomas                                       & [...]

        Benjamin-allen syndrome                                                                                                                        138

        Benjamin-Allen Syndrome                                       [...]

        Nonne-milroy-meige disease (chronic hereditary lymphedema; milroy disease; meige disease; meige-milroy syndrome; nonne-milroy syndrome; chronic hereditary edema; chronic hereditary trophedema; chronic trophedema; elephantiasis congenita hereditaria; familial hereditary edema; hereditary edema; idiopathic hereditary lymphedema; pseudoedematous hypodermal hypertrophy; pseudoelephantiasis neuroarthritica; oromandibular dystonia; blepharospasm-oromandibular dystonia; congenital trophedema; tropholymphedema; trophoneurosis; elephantiasis arabum congenita)                                                                                                           8

        Nonne-Milroy-Meige Disease (Chronic Hereditary Lymphedema; Milroy Disease; Meige Disease; Meige-Milroy Syndrome; Nonne-Milroy Syndrome; Chronic Hereditary Edema; Chronic Hereditary Trophedema; Chronic Trophedema; Elephantiasis Congenita Hereditar [...]

        A exotropia syndrome

        A Exotropia Syndrome                                                                                                                                    Exotropia greater looking down by 15 prism diopters than looking up; mongoloid (upward) s [...]

        Congenital dyslexia syndrome (developmental dyslexia of critchley; congenital word blindness of hermann; primary dyslexia; dyslexia syndrome; minimal brain dysfunction syndrome; attention deficit disorder; congenital word blindness)                                                                                        279

        Congenital Dyslexia Syndrome (Delopmental Dyslexia of Critchley; Congenital Word Blindness of Hermann; Primary Dyslexia; Dyslexia Syndrome; Minimal Brain Dysfunction Syndrome; Attention Deficit Disorder; Congenital Word Blindness)&n [...]

        Rendu-osler syndrome (rendu-osler- weber syndrome; hereditary hemorrhagic telangiectasis; babington disease; goldstein hematemesis; osler syndrome [2])                                                                        

        Rendu-Osler Syndrome (Rendu-Osler- Weber Syndrome; Hereditary Hemorrhagic Telangiectasis; Babington Disease; Goldstein Hematemesis; Osler Syndrome [2])                                                                         General: Etiolog [...]

        Multiple sulfatase deficiency                                                                                                                   

        Multiple Sulfatase Deficiency                                                                                                                    General: Autosomal recessi Ocular Congenital peripheral cataract; retinal degeneration; che [...]

        Hemolytic anemia of newborns (icterus gravis neonatorum; erythroblastosis fetalis)                  

        Hemolytic Anemia of Newborns (Icterus Gravis Neonatorum; Erythroblastosis Fetalis)                   General: Rh-positi/negati infant carried by an Rh-positi/negati mother; isoimmunization of the mother by her fetus of different blo [...]

        K

        K Kabuki Makeup Syndrome (Niikawa-Kuroki Syndrome)                                                                    6 General: Etiology unknown; originally termed Kabuki makeup syndrome because dysmorphic facies resembled the sty [...]

        Reticular pigmentary retinal dystrophy of posterior pole (sjögren disease)                                  

        Reticular Pigmentary Retinal Dystrophy of Posterior Pole (Sjögren Disease)                                   General: Autosomal recessi; characterized by peculiar network of black-pigmented lines in posterior pole of retina. Ocular: Fi [...]

        Cebocephalia                                                                                                                                              217

        Cebocephalia                                       &nbs [...]

        Mirror image syndrome (autoscopic syndrome; lukianowicz phenomenon)                                  

        Mirror Image Syndrome (Autoscopic Syndrome; Lukianowicz Phenomenon)                                   General: Patient's delusion that he or she is seeing a double of himself or herself; seen in patients with schizophrenia, epilepsy, migr [...]

        Incipient prechiasmal optic nerve compression syndrome                                                                

        Incipient Prechiasmal Optic Ner Compression Syndrome                                                                 General: Caused by an expansi prechiasmal tumor or other lesion slowly compressing the optic ner; frequently unilatera [...]

        Oculodental syndrome (peters syndrome; rutherford syndrome)                                                    

        Oculodental Syndrome (Peters Syndrome; Rutherford Syndrome)                                                     General: Similar to Rieger syndrome and Meyer-Schwickerath-Weyer syndrome; Peters syndrome inherited as autosomal recessi with [...]

        Fetal hydantoin syndrome                                                                                                                       4

        Fetal Hydantoin Syndrome                                                                                                                       4 General: Syndrome due to an epoxide hydrolase 1, microsomal, arene oxide detoxification defect. [...]

        Diamond blackfan syndrome                                                                                                                  366

        Diamond Blackfan Syndrome                                     &nb [...]

        Thyrocerebroretinal syndrome (familial thyrocerebral retinal syndrome)                                   1

        Thyrocerebroretinal Syndrome (Familial Thyrocerebral Retinal Syndrome)                                   1 General: Autosomal recessive; renal, neurologic, and thyroid disease. Ocular: Retinal hemorrhages; central sion defect; retinal ed [...]

        X-linked mental retardation syndrome (xlmr)                                                                             

        X-Linked Mental Retardation Syndrome (XLMR)                                                                              General: X-linked mental retardation syndrome, of which many types may exist. Ocular: Glaucoma may be found in some pa [...]

        Von bekhterev-strumpell syndrome (marie-strumpell spondylitis; ankylosing spondylitis; pierre-marie syndrome; bekhterev disease; rheumatoid spondylitis)                                             1

        Von Bekhterev-Strumpell Syndrome (Marie-Strumpell Spondylitis; Ankylosing Spondylitis; Pierre-Marie Syndrome; Bekhterev Disease; Rheumatoid Spondylitis)                                             1 General: riant of rheumatoid arthritis; [...]

        Infantile type of neuronal ceroid lipofuscinosis (ceroid lipofuscinosis; hagberg-santavuori syndrome; haltia-santavuori syndrome; santavuori-haltia syndrome)                                           

        Infantile Type of Neuronal Ceroid Lipofuscinosis (Ceroid Lipofuscinosis; Hagberg-Santaori Syndrome; Haltia-Santaori Syndrome; Santaori-Haltia Syndrome)                                            General: Age of onset 8 to 18 months; [...]

        Leber hereditary optic neuropathy (optic atrophy amaurosis; pituitary syndrome; leber syndrome)   

        Leber Hereditary Optic Neuropathy (Optic Atrophy Amaurosis; Pituitary Syndrome; Leber Syndrome)    General: Male preponderance; in acute phase of neuropathy there are three characteristic fundus changes: circumpapillary micro angiopathy, ps [...]

        Zieve syndrome (hyperlipemia-hemolytic anemia-icterus syndrome)                                            

        Zieve Syndrome (Hyperlipemia-Hemolytic Anemia-Icterus Syndrome)                                             General: Unknown etiology; pancreatitis; prelent in middle-aged males with history of recent alcohol intake; insidious onset. O [...]

        Blatt syndrome (cranio-orbito-ocular dysraphia)                                                                               152

        Blatt Syndrome (Cranio-Orbito-Ocular Dysraphia)                                   [...]

        Corneal dystrophy, meesmann epithelial (meesmann epithelial dystrophy of cornea)                  301

        Corneal Dystrophy, Meesmann Epithelial (Meesmann Epithelial Dystrophy of Cornea)                  301 General: Autosomal dominant; rare; onset firs [...]

        Ophthalmoplegic neuromuscular disorder with abnormal mitochondria                                        

        Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria                                         General: Autosomal recessi. Ocular: Ptosis; external ophthalmoplegia. Clinical: Involment of cranial ners and skeletal mus [...]

        Reticulum cell sarcoma (non-hodgkin lymphoma)                                                                         

        Reticulum Cell Sarcoma (Non-Hodgkin Lymphoma)                                                                          General: Autosomal recessive; large-cell lymphoma with chronic inflammation with a predominance of cells in treous cat [...]

        Blau syndrome                                                                                                                                           153

        Blau Syndrome                                       &nb [...]

        Stargardt disease (juvenile macular degeneration)                                                                           

        Stargardt Disease (Juvenile Macular Degeneration)                                                                            General: Onset between ages 8 and 14 years; riable appearance in different families. Ocular: Heredomacular dyst [...]

        Coloboma of macula with type b brachydactyly (apical dystrophy)                                                266

        Coloboma of Macula with Type B Brachydactyly (Apical Dystrophy)                              &n [...]

        Streptococcus (scarlet fever)                                                                                                                  

        Streptococcus (Scarlet Fever)                                                                                                                   General: Gram-positive bacteria that can invade any tissue. Ocular: Conjunctitis; corneal ul [...]

        J

        J Jabs Syndrome (Synovitis, Granulomatous Uitis, and Cranial Neuropathies)                                 General: Autosomal dominant. Ocular: Granulomatous uitis; iritis; sixth ner palsy. Clinical: Granulomatous syno [...]

        Amendola syndrome

        Amendola Syndrome                                                                                                                                       General: Obserd in Sao Paulo, Brazil; all ethnic groups are affected; endemic form of [...]

        Hysteria (malingering; ophthalmic flake syndrome)                                                                          

        Hysteria (Malingering; Ophthalmic Flake Syndrome)                                                                           General: Willful or unwillful exaggeration or simulation of symptoms of an illness without physiologic cause; frequen [...]

        Refsum syndrome (heredopathia atactica polyneuritiformis syndrome; phytanic acid oxidase deficiency; phytanic acid storage disease; refsum-thiebaut syndrome)                                       

        Refsum Syndrome (Heredopathia Atactica Polyneuritiformis Syndrome; Phytanic Acid Oxidase Deficiency; Phytanic Acid Storage Disease; Refsum-Thiebaut Syndrome)                                        General: Autosomal recessi; disorder of [...]

        Benedikt syndrome (tegmental syndrome)                                                                                           136

        Benedikt Syndrome (Tegmental Syndrome)                                   &n [...]

        Martsolf syndrome                                                                                                                                   

        Martsolf Syndrome                                                                                                                                    General: Autosomal recessi; rare; cardiac abnormalities. Ocular: Cataracts. Clinical: [...]

        Criswick-schepens syndrome (familial exudative vitreoretinopathy)                                               323

        Criswick-Schepens Syndrome (Familial Exudative treoretinopathy)                               [...]

        Skew deviation syndrome (hertwig-magendie syndrome)                                                                1

        Skew Deviation Syndrome (Hertwig-Magendie Syndrome)                                                                1 General: Vascular deficiency involving the brainstem and middle cerebral peduncle; obserd after encephalitis, tumors of the [...]

        Gapo syndrome (growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome)  

        GAPO Syndrome (Growth Retardation, Alopecia, Pseudoanodontia, Optic Atrophy Syndrome)   General: Autosomal recessi. Ocular: Progressi optic atrophy; glaucoma; keratoconus. Clinical: Growth retardation; alopecia; pseudoanodontia; fr [...]

        Knobloch syndrome                                                                                                                                  6

        Knobloch Syndrome                                                                                                                                  6 General: Autosomal recessi; retinal detachment with occipital encephalocele. Ocular: High [...]

        Riley-day syndrome (congenital familial dysautonomia)                                                                

        Riley-Day Syndrome (Congenital Familial Dysautonomia)                                                                 General: Autosomal recessi; occurs in Ashkenazi Jewish population; impaired catechol meolism; manifested in first few [...]

        Klein syndrome                                                                                                                                         6

        Klein Syndrome                                                                                                                                         6 General: Autosomal dominant; belongs to the group of iridodermatoauditi dysplasias. [...]

        Jacobs syndrome (triple x syndrome; xxx syndrome; super female syndrome)                        

        Jacobs Syndrome (Triple X Syndrome; XXX Syndrome; Super Female Syndrome)                         General: Caused by sex chromosomal anomaly with 44 autosomal and 3X sex chromosomes; due to nondisjunction; often associated with autosomal tri [...]

        Melnick-needles syndrome (osteodysplasty)                                                                                         

        Melnick-Needles Syndrome (Osteodysplasty)                                                                                          General: Bone dysplasia; fewer than 30 cases reported; familial congenital autosomal trait; affect both sexes; [...]

        Tic douloureux (trigeminal neuralgia)                                                                                                1

        Tic Douloureux (Trigeminal Neuralgia)                                                                                                1 General: Brief, sharp, unilateral facial pain that usually occurs in the middle or lower face; occurs more [...]

        Retroparotid space syndrome (villaret syndrome; posterior retroparotid space syndrome)     

        Retroparotid Space Syndrome (Villaret Syndrome; Posterior Retroparotid Space Syndrome)      General: Lesions (traumatic, inflammatory, tumors) involving cranial nerves IX to XII and the cervical sympathetic (see Jugular Foramen Syndrome [ [...]

        Oxalosis (primary hyperoxaluria; lepoutre syndrome)                                                                      

        Oxalosis (Primary Hyperoxaluria; Lepoutre Syndrome)                                                                       General: Autosomal recessi and acquired forms; meolic disorders with accumulation of oxalic acid in tissues; type [...]

        Optic atrophy with demyelinating disease of cns                                                                              

        Optic Atrophy with Demyelinating Disease of CNS                                                                               General: Autosomal dominant; demyelinated optic ners appear smaller than normal and are pale white or gray in col [...]

        Multiple lentigines syndrome (leopard syndrome)                                                                       

        Multiple Lentigines Syndrome (LEOPARD Syndrome)                                                                        General: Familial occurrence; classic features include lentigines (small focal hyperpigmentations of skin), electrocardiog [...]

        Carcinoid syndrome                                                                                                                                  197

        Carcinoid Syndrome                                      &nbs [...]

        Hypoproteinemia syndrome (plurideficiency syndrome; kwashiorkor syndrome; malnutrition syndrome)                                                                                                                                                 

        Hypoproteinemia Syndrome (plurideficiency Syndrome; Kwashiorkor Syndrome; Malnutrition Syndrome)                                                                                                                                                  [...]

        Axenfeld-rieger syndrome (posterior embryotoxon; axenfeld syndrome)

        Axenfeld-Rieger Syndrome (Posterior Embryotoxon; Axenfeld Syndrome) General: Dominant inheritance; occasionally sporadic; riable in expression. Ocular: Posterior embryotoxon: ringlike opacity of cornea; long trabecula; prominent Schwal [...]

        Axenfeld-schurenberg syndrome (cyclic oculomotor paralysis)

        Axenfeld-Schurenberg Syndrome (Cyclic Oculomotor Paralysis) General: Congenital manifestation; frequently unilateral. Ocular: Cyclic oculomotor paralysis (paralysis alternating with spasm); during periods of paralysis, lid exhibits ptosi [...]

        Parinaud syndrome (divergence paralysis; subthalamic syndrome; paralysis of vertical movements; pretectal syndrome)                                                                                                            

        Parinaud Syndrome (Divergence Paralysis; Subthalamic Syndrome; Paralysis of Vertical Movements; Pretectal Syndrome)                                                                                                             General: riou [...]

        Simmonds syndrome (hypopituitarism syndrome)                                                                            

        Simmonds Syndrome (Hypopituitarism Syndrome)                                                                             General: Anterior pituitary gland destroyed by rious causes, such as hemorrhage, infarction, injuries, or postparturit [...]

        Hyperpigmentation of eyelids                                                                                                                 

        Hyperpigmentation of Eyelids                                                                                                                  General: Autosomal dominant; causes may include drugs, sun, or too little adrenaline. Ocular: Un [...]

        Chronic granulomatous disease of childhood                                                                                      249

        Chronic Granulomatous Disease of Childhood                                  &nbs [...]

        Cytomegalic inclusion disease (cytomegalovirus; congenital cytomegalic inclusion disease)         342

        Cytomegalic Inclusion Disease (Cytomegalorus; Congenital Cytomegalic Inclusion Disease)         342 General: Cytomegalorus passes transplacentally from an asymptomatic mother to fetus. [...]

        Mumps                                                                                                                                                       

        Mumps                                                                                                                                                        General: Viral infection. Ocular: Conjunctitis; keratitis; corneal ulcer; tenoni [...]

        Q

        Q Q Fer                                                                                                                                                     General: Acute rickettsial infection caused by Coxiella burnetii; at lea [...]

        Kasabach-merritt syndrome (capillary angioma-thrombocytopenia; hemangioma-thrombocytopenia; thrombocytopenia purpura-hemangioma)                                                                                            6

        Kasabach-Merritt Syndrome (Capillary Angioma-Thrombocytopenia; Hemangioma-Thrombocytopenia; Thrombocytopenia Purpura-Hemangioma)                                                                                            6 General: Angioma ca [...]

        Melas syndrome                                                                                                                                    7

        MELAS Syndrome                                                                                                                                    7 General: Changing of threonine at amino acid 109 to an alanine; A3245G mitochondrial DNA point [...]

        Miller syndrome (postaxial acrofacial dysostosis; genee-wiedemann syndrome)                          

        Miller Syndrome (Postaxial Acrofacial Dysostosis; Genee-Wiedemann Syndrome)                           General: Cause unknown; sporadic and familial cases known as Genee-Wiedemann Syndrome. Ocular: Ectropion. Clinical: Malar hypoplasia [...]

        Congenital cataract, microcornea, abnormal irides, nystagmus, and congenital glaucoma syndrome      277

        Congenital Cataract, Microcornea, Abnormal Irides, Nystagmus, and Congenital Glaucoma Syndrome      277 General: Autosomal dominant. Ocular: Microphakia; cataract with two concentric disks, with t [...]

        Lymphangioma                                                                                                                                         

        Lymphangioma                                                                                                                                          General: Poorly circumscribed infiltrating lesions consisting of lymphatics/dysplastic bloo [...]

        Meshers macroreticular dystrophy of retinal pigment epithelium (butterfly-shaped dystrophy of retinal pigment epithelium)                                                                                                                     7

        Meshers Macroreticular Dystrophy of Retinal Pigment Epithelium (Butterfly-Shaped Dystrophy of Retinal Pigment Epithelium)                                                                                                                     7 [...]

        Von economo syndrome (encephalitis lethargica; sleeping sickness; iceland disease)                 1

        Von Economo Syndrome (Encephalitis Lethargica; Sleeping Sickness; Iceland Disease)                 1 General: Etiology not understood; may be caused by filterable rus; both sexes affected; onset at all ages; epidemic form. Ocular: Nysta [...]

        Behr syndrome (optic atrophy ataxia syndrome)                                                                               134

        Behr Syndrome (Optic Atrophy Ataxia Syndrome)                                  & [...]

        Crowded disc syndrome (bilateral choroidal folds and optic neuropathy)                                         328

        Crowded Disc Syndrome (Bilateral choroidal folds and optic neuropathy)                             & [...]

        Pfeiffer syndrome                                                                                                                                    

        Pfeiffer Syndrome                                                                                                                                     General: Congenital craniosynostotic syndrome with a high rate of mortality shortly after b [...]

        Terson syndrome (subarachnoid hemorrhage syndrome)                                                                1

        Terson Syndrome (Subarachnoid Hemorrhage Syndrome)                                                                1 General: Spontaneous rupture of aneurysm or traumatic intracerebral hemorrhage; onset at all ages. Ocular: Weakness of extr [...]

        Endocarditis                                                                                                                                              

        Endocarditis                                                                                                                                               General: Common in people with arteriosclerosis; subacute form leads to pyemia; bacter [...]

        Psoriatic arthritis                                                                                                                                    

        Psoriatic Arthritis                                                                                                                                     General: Chronic skin disease of unknown etiology; both sexes affected; onset at any age; [...]

        Arndt-gottron syndrome (scleromyxedema)

        Arndt-Gottron Syndrome (Scleromyxedema)                                                                                               General: Etiology unknown; rare cutaneous disease of hyaluronic acid deposits in dermis; riant of lichen [...]

        Hypertension                                                                                                                                             

        Hypertension                                                                                                                                              General: Eleted blood pressure. Ocular: Retinal arterial narrowing; arteriosclerosi [...]

        Basal cell nevus syndrome (nevoid basal cell carcinoma syndrome; nevoid basalioma syndrome; gorlin syndrome; gorlin-goltz syndrome; multiple basal cell nevi syndrome)          124

        Basal Cell Nevus Syndrome (Nevoid Basal Cell Carcinoma Syndrome; Nevoid Basalioma Syndrome; Gorlin Syndrome; Gorlin-Goltz Syndrome; Multiple Basal Cell Ne Syndrome)          124 [...]

        Chlamydia (inclusion conjunctivitis; paratrachoma)                                                                            237

        Chlamydia (Inclusion Conjunctitis; Paratrachoma)                                 &n [...]

        Autoimmunologically mediated syndrome

        Autoimmunologically Mediated Syndrome (Lymphocytic Hypophysitis Associated with Dacryoadenitis Syndrome) General: Lymphocytes infiltrate the hypophysis. Ocular: Dacryoadenitis. Clinical: Lymphocytic infiltration of the hypophysis by CD3 [...]

        Eaton-lambert syndrome (myasthenic syndrome; ocular myoclonus syndrome; myoclonic syndrome)                                                                                                                                                  396

        Eaton-Lambert Syndrome (Myasthenic Syndrome; Ocular Myoclonus Syndrome; Myoclonic Syndrome)                        &nbs [...]

        Duck-bill lips and ptosis                                                                                                                          391

        Duck-Bill Lips and Ptosis                                     &nb [...]

        Exfoliation syndrome (capsular exfoliation syndrome)                                                                     

        Exfoliation Syndrome (Capsular Exfoliation Syndrome)                                                                      General: Only in men older than 60 years. Ocular: Iridodonesis; rubeosis iridis; cataract; phacodonesis; dislocated l [...]

        Optic atrophy, juvenile (optic atrophy, congenital; kjer-type optic atrophy; optic atrophy, kjer-type; oak syndrome [optic atrophy, kjer type])                                                                   

        Optic Atrophy, Junile (Optic Atrophy, Congenital; Kjer-Type Optic Atrophy; Optic Atrophy, Kjer-Type; OAK Syndrome [Optic Atrophy, Kjer Type])                                                                    General: Autosomal dominant; [...]

        Myopia, infantile severe                                                                                                                          

        Myopia, Infantile Sere                                                                                                                           General: Autosomal recessi; consanguineous parents. Ocular: High myopia; optic disk cuppin [...]

        Congenital retinal nonattachment                                                                                                          284

        Congenital Retinal Nonattachment                                    &n [...]

        Cronkhite-canada syndrome                                                                                                                  326

        Cronkhite-Canada Syndrome                                     &nb [...]

        Ml iv (mucolipidosis iv; berman syndrome)                                                                                     

        ML IV (Mucolipidosis IV; Berman Syndrome)                                                                                      General: Storage disease in which corneal clouding is an early sign with no evidence of systemic involment until [...]

        Leishmaniasis                                                                                                                                            

        Leishmaniasis                                                                                                                                             General: Caused by protozoa Leishmania. Ocular: Conjunctivitis; ulcerati keratitis; [...]

        Enterobiasis (oxyuriasis; pinworm; seatworm)                                                                                    

        Enterobiasis (Oxyuriasis; Pinworm; Seatworm)                                                                                     General: Intestinal infection caused by Enterobius rmicularis; worm's head attached to cecal mucosa, appendix, [...]

        Familial mediterranean fever                                                                                                                 

        Familial Mediterranean Fer                                                                                                                  General: Recessi inherited polyserositis; progressi, fatal complications are renal failure and [...]

        Hermansky-pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis)                   5

        Hermansky-Pudlak Syndrome (Oculocutaneous Albinism and Hemorrhagic Diathesis)                   5 General: Autosomal recessi; mostly affects children or young adults; tyrosinase-positi oculocutaneous albinism; abnormal platelets; increas [...]

        Crome syndrome                                                                                                                                       325

        Crome Syndrome                                       &n [...]

        Cataract, crystalline coralliform                                                                                                            208

        Cataract, Crystalline Coralliform                                    & [...]

        Ophthalmoplegia, progressive external, with ragged red fibers                                                      

        Ophthalmoplegia, Progressi External, with Ragged Red Fibers                                                       General: Autosomal dominant. Ocular: Progressi ophthalmoplegia. Clinical: Ragged red fibers in skeletal muscle from t [...]

        Giant papillary conjunctivitis syndrome                                                                                               

        Giant Papillary Conjunctitis Syndrome                                                                                                General: Commonly associated with contact lenses (hard and soft), foreign bodies, and ocular prosthesis; i [...]

        Hallervorden-spatz syndrome (pigmentary degeneration of globus pallidus; progressive pallidal degeneration syndrome                                                                                                                           

        Hallervorden-Spatz Syndrome (pigmentary Degeneration of Globus Pallidus; Progressi Pallidal Degeneration Syndrome