Amyloidosis of gingiva and conjunctiva, with mental retardation

General: Autosomal recessive; primary amyloidosis differs from secondary by the mesodermal tissues 737e44h being affected and nodular form of deposits; no preexisting medical condition; preferential involvement of mesenchymal tissues; variable staining of deposits.

Ocular: Conjunctivitis with deposits; corneal leukoma; waxy eyelid papules with purpura; proptosis; diplopia; decreased vision; ptosis; keratitis sicca; upper lid mass; tonic pupil; accommodative paresis; diffuse yellow conjunctival mass.

Clinical: Hyperplastic gingivitis, tongue, skin, and muscles; lungs with icing-like coating; mental retardation; peripheral neuropathy; congestive heart failure; polyarthropathy; spontaneous, incidental purpura; macroglossia; bleeding diathesis; idiopathic carpal tunnel syndrome.

Hornova J, Dlurosova O. Primary amyloidosis of gingiva and conjunctiva and mental disorder in a brother and sister. Oral Surg 1968; 25:457-464.

Lamkin JC. Amyloidosis and the eye. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. V. Philadelphia: WB Saunders, 1994:2956-2975.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.