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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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coloboma

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.

Duane-Radial Ray Syndrome

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Congenital Disorder of Glycosylation, Type Iq

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Kahrizi Syndrome

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CHARGE Syndrome

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Coloboma of the Optic Nerve

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Coloboma, Ptosis, Hypertelorism, and Global Delay

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Coloboma, Isolated

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Typical inferonasal colobomas

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Microphthalmia, AR

Organoid Nevus Syndrome

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College of Medicine
Department of Ophthalmology and Vision Science
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