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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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seizures

Mitochondrial DNA Depletion Syndrome 3

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Cerebral Palsy, Spastic Quadriplegic, 3

Heart and Brain Malformation Syndrome

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.

Encephalocraniocutaneous Lipomatosis

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A defective FGFR1 gene product is unable to recognize the appropriate receptor in the cell surface and results in defective cell signaling.

Hyperphosphatasia with Mental Retardation Syndrome 6

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

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.

Spastic Paraplegia with Psychomotor Retardation and Seizures

Optic Atrophy 10

Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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