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Article

Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation.

Ophthalmic genetics - 1 Jan 2000

Russo Andrea, Delcassi Luisa, Marchina Eleonora, Semeraro Francesco

Abstract excerpt

PURPOSE: To assess the association between retinal nerve fiber layer (RNFL) thickness and visual acuity in a family from Siracusa (Sicily) with autosomal dominant optic atrophy (ADOA) due to a heterozygous c.869G>A OPA1 mutation. METHODS: Affected family members underwent complete neuro-ophthalmological evaluation, including visual acuity testing, colour vision testing, tonometry, visual field testing, colour...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22779427
DOI: 10.3109/13816810.2012.702259

Genes

OPA1

Variants

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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