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 [...]
W
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
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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.
