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Article

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.

Investigative ophthalmology & visual science - 1 Jul 2010

Audo Isabelle, Manes Gaël, Mohand-Saïd Saddek, Friedrich Anne, Lancelot Marie-Elise, Antonio Aline, Moskova-Doumanova Veselina, Poch Oliver, Zanlonghi Xavier, Hamel Christian P, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christina

Abstract excerpt

UNLABELLED: PURPOSE. To identify the prevalence of rhodopsin (RHO) mutations in French patients with autosomal dominant rod-cone dystrophies (adRPs). Methods. Detailed phenotypic characterization was performed, including precise family history, best corrected visual acuity with the ETDRS chart, slit lamp examination, kinetic and static perimetry, full-field and multifocal electroretinography (ERG), fundus...

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Source

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Identifiers

PMID: 20164459
DOI: 10.1167/iovs.09-4766
PMCID: PMC3102265

Genes

RHO
ERG

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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