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Article

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Human mutation - 1 Jan 2012

Audo Isabelle, Mohand-Saïd Saddek, Dhaenens Claire-Marie, Germain Aurore, Orhan Elise, Antonio Aline, Hamel Christian, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christina

Abstract excerpt

Rod-cone dystrophies (retinitis pigmentosa [RP]) are a clinically and genetically heterogeneous group of inherited retinal disorders characterized by photoreceptor degeneration. RP1 is a major gene underlying autosomal dominant (ad) RP, though prevalence figures vary depending on the origin of the cases from 0-10% of all adRP. Some mutations in RP1 also lead to autosomal recessive (ar) RP. Herein, we review all...

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PMID: 22052604
DOI: 10.1002/humu.21640

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