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Article

Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.

Ophthalmology - 1 Feb 2010

Yen May-Yung, Wang An-Guor, Lin Yen-Ching, Fann Ming-Ji, Hsiao Kwang-Jen

Abstract excerpt

PURPOSE: To investigate OPA1 gene mutations in Chinese patients with autosomal dominant optic atrophy and sporadic optic atrophy. DESIGN: Molecular genetic studies and observational case series. PARTICIPANTS: Twenty-four patients from 10 unrelated Chinese pedigrees of autosomal-dominant optic atrophy, 35 isolated cases with bilateral optic atrophy of unknown cause, and 50 unrelated normal controls. METHODS:...

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Source

Identifiers

PMID: 19969356
DOI: 10.1016/j.ophtha.2009.07.019

Genes

OPA1

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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