High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

doi:10.1016/j.ajo.2014.10.033

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Article

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

American journal of ophthalmology - 1 Feb 2015

Manes Gaël, Guillaumie Tremeur, Vos Werner L, Devos Aurore, Audo Isabelle, Zeitz Christina, Marquette Virginie, Zanlonghi Xavier, Defoort-Dhellemmes Sabine, Puech Bernard, Said Saddek Mohand, Sahel José Alain, Odent Sylvie, Dollfus Hélène, Kaplan Josseline, Dufier Jean-Louis, Le Meur Guylène, Weber Michel, Faivre Laurence, Cohen Francine Behar, Béroud Christophe, Picot Marie-Christine, Verdier Coralie, Sénéchal Audrey, Baudoin Corinne, Bocquet Béatrice, Findlay John B, Meunier Isabelle, Dhaenens Claire-Marie, Hamel Christian P

Abstract excerpt

PURPOSE: To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients. DESIGN: Retrospective clinical and molecular gene...

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Identifiers

PMID: 25447119
DOI: 10.1016/j.ajo.2014.10.033

Genes

PRPH2
ERG
RHO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25447119-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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