Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.

doi:10.1016/j.ajo.2014.05.034

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Article

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.

American journal of ophthalmology - 1 Sept 2014

Barboni Piero, Savini Giacomo, Cascavilla Maria Lucia, Caporali Leonardo, Milesi Jacopo, Borrelli Enrico, La Morgia Chiara, Valentino Maria Lucia, Triolo Giacinto, Lembo Andrea, Carta Arturo, De Negri Annamaria, Sadun Federico, Rizzo Giovanni, Parisi Vincenzo, Pierro Luisa, Bianchi Marzoli Stefania, Zeviani Massimo, Sadun Alfredo A, Bandello Francesco, Carelli Valerio

Abstract excerpt

PURPOSE: To assess the peripapillary retinal nerve fiber and macular retinal ganglion cell (RGC) loss in patients with dominant optic atrophy (DOA) stratified by OPA1 mutation type. DESIGN: Cross-sectional study. METHODS: We studied 39 patients from 28 pedigrees with DOA harboring heterozygous mutations in the OPA1 gene along with 45 age-matched healthy subjects. The retinal nerve fiber layer (RNFL) and ganglion...

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PMID: 24907432
DOI: 10.1016/j.ajo.2014.05.034

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.

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