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Article

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.

Ophthalmology - 1 Aug 2010

Barboni Piero, Carbonelli Michele, Savini Giacomo, Foscarini Beatrice, Parisi Vincenzo, Valentino Maria L, Carta Arturo, De Negri Annamaria, Sadun Federico, Zeviani Massimo, Sadun Alfredo A, Schimpf Simone, Wissinger Bernd, Carelli Valerio

Abstract excerpt

PURPOSE: To analyze the influence of OPA1 gene mutations on the optic nerve head (ONH) morphology in patients with dominant optic atrophy (DOA). DESIGN: Cross-sectional study. PARTICIPANTS: Twenty-eight patients with DOA from 11 pedigrees, which were positive for the presence of OPA1 gene mutations, and 56 age-matched control subjects, were enrolled. METHODS: The ONH of DOA patients was studied by optical...

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Source

Identifiers

PMID: 20417568
DOI: 10.1016/j.ophtha.2009.12.042

Genes

OPA1

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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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