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Article

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Molecular vision - 1 Jan 2013

Chen Yabin, Jia Xiaoyun, Wang Panfeng, Xiao Xueshan, Li Shiqiang, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

PURPOSE: Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary optic neuropathy. METHODS: A cohort of 193 Chinese families with suspected hereditary optic neuropathy was collected,...

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Identifiers

PMID: 23401657
PMCID: PMC3566897

Genes

OPA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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