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Article

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy.

Experimental neurology - 1 Dec 2009

Alavi Marcel V, Fuhrmann Nico, Nguyen Huu Phuc, Yu-Wai-Man Patrick, Heiduschka Peter, Chinnery Patrick F, Wissinger Bernd

Abstract excerpt

The ubiquitously expressed gene OPA1 is the main disease causing gene for autosomal dominant optic atrophy (ADOA). These patients present with bilateral reduction in visual acuity, central visual field defects and impaired color vision, secondary to the progressive loss of retinal ganglion cells (RGCs) and subsequent degeneration of the optic nerve. Up to now, it is not clear why a mutation in a ubiquitously...

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Source

Identifiers

PMID: 19815013
DOI: 10.1016/j.expneurol.2009.09.026

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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