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Article

Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.

Eye (London, England) - 1 May 2011

Yu-Wai-Man P, Bailie M, Atawan A, Chinnery P F, Griffiths P G

Abstract excerpt

PURPOSE: The majority of patients with autosomal dominant optic atrophy (DOA) harbour pathogenic OPA1 mutations. Although DOA is characterised by the preferential loss of retinal ganglion cells (RGCs), about 20% of patients with OPA1 mutations will develop a more severe disease variant (DOA+), with additional neuromuscular features. In this prospective, observational case series, optical coherence tomography...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21378995
DOI: 10.1038/eye.2011.2
PMCID: PMC3094220

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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