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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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sensorineural deafness

Coloboma, Microphthalmia, Albinism, and Deafness

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Mutations in the MITF gene result in a defective transcription factor protein product that reduces the number of melanocytes thereby impacting multiple organ systems.

Takenouchi-Kosaki Syndrome

Myopia and Deafness

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Peroxisome Biogenesis Disorder 1B (neonatal adrenoleukodystrophy)

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Refsum Disease, Adult

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Cataracts, Congenital, Facial Dysmorphism, and Neuropathy

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Galactose Epimerase Deficiency

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Spondyloepiphyseal Dysplasia Congenita

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Marshall Syndrome

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Kearns-Sayre Syndrome

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College of Medicine
Department of Ophthalmology and Vision Science
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