Optic Atrophy Type 1

《英文msh詞典》Optic Atrophy Type 1
[入口詞] Optic Atrophy Type 1
[主題詞] Optic Atrophy,Autosomal Dominant
[英文釋義] 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.

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