DESCRIPTION:
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria. Generated by gene2mesh v. 1.1.1
LABEL:
Optic Atrophy, Autosomal Dominant
SCORE TYPE:
Binary
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SPECIES:
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