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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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Mitochondrial DNA Depletion Syndrome 3

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Cerebral Palsy, Spastic Quadriplegic, 3

Foveal Hypoplasia 2

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Spinocerebellar Ataxia 42

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The abnormal gene product of mutated CACNA1G impacts firing patterns in neurons and other cells resulting in widespread CNS malfunction.

Leukodystrophy, Hypomyelinating, 13

Spastic Paraplegia 11

Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 1

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Eye Movement Disorders with CACNA1A Mutations

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The mutated CACNA1A gene produt blocks normal Ca influx in darkness which interferes with visual fixation and results in a variety of abnormal eye movements.

Spondylometaphyseal Dysplasia, Axial

Spastic Paraplegia 75

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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