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Article

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

Brain : a journal of neurology - 1 Apr 2007

Alavi Marcel V, Bette Stefanie, Schimpf Simone, Schuettauf Frank, Schraermeyer Ulrich, Wehrl Hans F, Ruttiger Lukas, Beck Susanne C, Tonagel Felix, Pichler Bernd J, Knipper Marlies, Peters Thomas, Laufs Juergen, Wissinger Bernd

Abstract excerpt

Autosomal dominant optic atrophy (adOA) is a juvenile onset, progressive ocular disorder characterized by bilateral loss of vision, central visual field defects, colour vision disturbances, and optic disc pallor. adOA is most frequently associated with mutations in OPA1 encoding a dynamin-related large GTPase that localizes to mitochondria. Histopathological studies in adOA patients have shown a degeneration of...

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Source

Identifiers

PMID: 17314202
DOI: 10.1093/brain/awm005

Genes

OPA1

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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