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Article

[A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers].

Journal francais d'ophtalmologie - 1 Feb 2007

Macarez R, Amati-Bonneau P, Burelle X, Vanimschoot M, Dot C, Ocamica P, Kovalski J L, May F

Abstract excerpt

Autosomal dominant optic atrophy, or Kjer disease, is the most frequent form of autosomal dominant optic neuropathy. We report a novel mutation of the OPA1 gene in two brothers with autosomal dominant optic atrophy and describe their clinical features. The two patients, aged 41 and 37, presented with a bilateral visual impairment that had been detected at the age of 4 in both of them. Their ophthalmoscopic...

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Source

Identifiers

PMID: 17318099
DOI: 10.1016/s0181-5512(07)89567-2

Genes

OPA1

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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