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Article

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

Ophthalmology - 1 Mar 2006

Nakamura Makoto, Lin Jian, Ueno Shinji, Asaoka Ryo, Hirai Toshie, Hotta Yoshihiro, Miyake Yozo, Terasaki Hiroko

Abstract excerpt

PURPOSE: Autosomal dominant optic atrophy (ADOA) is characterized by symmetrical bilateral optic atrophy associated with reduced corrected visual acuity (VA), central or centrocecal scotoma, and color vision disturbances. The disease is genetically heterogeneous, and the OPA1 gene has been identified as the only causative gene. The aims of this study were to identify and report mutations in the OPA1 gene in...

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Source

Identifiers

PMID: 16513463
DOI: 10.1016/j.ophtha.2005.10.054

Genes

OPA1

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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