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Article

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

American journal of medical genetics. Part A - 15 Oct 2005

Li Chunmei, Kosmorsky Gregory, Zhang Kang, Katz Bradley J, Ge Jian, Traboulsi Elias I

Abstract excerpt

Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic atrophy. Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, OPA1. We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in two unrelated families associated with an R445H mutation in...

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Source

Identifiers

PMID: 16158427
DOI: 10.1002/ajmg.a.30794

Genes

OPA1
OPA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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