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Article

OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.

Investigative ophthalmology & visual science - 1 Jun 2009

White Kathryn E, Davies Vanessa J, Hogan Vanessa E, Piechota Malgorzata J, Nichols Philip P, Turnbull Douglas M, Votruba Marcela

Abstract excerpt

PURPOSE: To examine retinal ganglion cell (RGC) and axonal abnormalities in an ENU-induced mutant mouse carrying a protein-truncating nonsense mutation in OPA1. Mutations in the OPA1 gene cause autosomal dominant optic atrophy (ADOA) in which loss of RGCs followed by myelin degeneration in the optic nerve leads to progressive decrease in visual acuity. METHODS: Ultrastructure of the optic nerve was examined in...

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Source

Identifiers

PMID: 19234344
DOI: 10.1167/iovs.08-2913

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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