Optic Atrophy, Autosomal Dominant D029241

Related MeSH Hierarchy (7)

Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Mitochondrial Diseases » Optic Atrophy, Autosomal Dominant

Diseases [C] » Nervous System Diseases [C10] » Cranial Nerve Diseases » Optic Nerve Diseases » Optic Atrophy » Optic Atrophies, Hereditary » Optic Atrophy, Autosomal Dominant

Diseases [C] » Eye Diseases [C11] » Eye Diseases, Hereditary » Optic Atrophies, Hereditary » Optic Atrophy, Autosomal Dominant

Diseases [C] » Eye Diseases [C11] » Optic Nerve Diseases » Optic Atrophy » Optic Atrophies, Hereditary » Optic Atrophy, Autosomal Dominant

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.   MeSH

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