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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) 121h76b 121h76b 121h76b

General: Autosomal recessive; both sexes affected; corneal edema present at birth; slow and progressive; both dominant and recessive forms of this disorder have been described.

Ocular: Bluish-white opacities of cornea with normal sensitivity and no vascularization; nystagmus; keratoconus.

Clinical: Sensorineural hearing loss with childhood onset.

Harboyan A, et al. Congenital corneal dystrophy, progressive sensorineural deafness in a family. Arch Ophthalmol 1971; 85:27-32.

Kirkness CM, et al. Congenital hereditary corneal edema of Maumenee: Its Clinical features, management and pathology. Br J Ophthalmol 1987; 71:130-l44.

Maumenee AE. Congenital hereditary corneal dystrophy. Am J Ophthalmol 1960; 50:1114-l124.

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/.

Regenbogen LS, Coscas GJ. Oculo-auditory syndromes. New York: Masson, 1985.




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