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Article

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

American journal of ophthalmology - 1 Dec 2003

Amati-Bonneau Patrizia, Odent Sylvie, Derrien Christelle, Pasquier Laurent, Malthiéry Yves, Reynier Pascal, Bonneau Dominique

Abstract excerpt

PURPOSE: To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness. DESIGN: Observational case report. The entire coding sequence of the OPA1 gene was directly sequenced in the case of a patient suffering from optic atrophy associated with mo...

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Source

Identifiers

PMID: 14644237
DOI: 10.1016/s0002-9394(03)00665-2

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14644237-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.PMID 14644237Read ↗

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