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Article

An unusual retinal phenotype associated with a novel mutation in RHO.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2010

Audo Isabelle, Friedrich Anne, Mohand-Saïd Saddek, Lancelot Marie-Elise, Antonio Aline, Moskova-Doumanova Veselina, Poch Olivier, Bhattacharya Shomi, Sahel José-Alain, Zeitz Christina

Abstract excerpt

OBJECTIVE: To report a new genetic variant in the rhodopsin gene (RHO) associated with an unusual autosomal dominant retinal phenotype. METHODS: Detailed phenotypic characterization was performed on affected family members spanning 4 generations, including family history, best-corrected visual acuity, fundus examination, kinetic and static perimetry, full-field and multifocal electroretinography, fundus...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20697005
DOI: 10.1001/archophthalmol.2010.162

Genes

RHO

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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