Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.

doi:10.1016/j.ophtha.2010.07.029

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Article

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.

Ophthalmology - 1 Mar 2011

Yu-Wai-Man Patrick, Shankar Suma P, Biousse Valérie, Miller Neil R, Bean Lora J H, Coffee Bradford, Hegde Madhuri, Newman Nancy J

Abstract excerpt

PURPOSE: Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease. Approximately 60% of cases harbor OPA1 mutations, whereas OPA3 mutations have been reported in only 2 pedigrees with DOA and premature cataracts. The aim of this study was to determine the yield of OPA1 and OPA3...

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Identifiers

PMID: 21036400
DOI: 10.1016/j.ophtha.2010.07.029
PMCID: PMC3044822

Genes

OPA1
OPA3

Variants

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.