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Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.

Investigative ophthalmology & visual science - 9 Sept 2014

Chen Jieqiong, Xu Ke, Zhang Xiaohui, Jiang Feng, Liu Lijuan, Dong Bing, Ren Yanfan, Li Yang

Abstract excerpt

PURPOSE: Leber's hereditary optic atrophy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common forms. The objective of this study was to define the fractional prevalence of LHON and DOA in a cohort of Chinese patients with suspected hereditary optic neuropathy. METHODS: We recruited 520 unrelated patients with bilateral optic atrophy for genetic analysis: 174 patients had a positive family...

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Source

Identifiers

PMID: 25205859
DOI: 10.1167/iovs.14-14953

Genes

OPA1
OPA3

Provenance

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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