High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
Fiche publication
Date publication
février 2015
Journal
American journal of ophthalmology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP
Lien Pubmed
Résumé
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.
Mots clés
Adolescent, Adult, Aged, Blotting, Western, DNA Mutational Analysis, Electroretinography, Female, Fluorescein Angiography, France, epidemiology, Gene Expression, Genetic Linkage, Genotype, Humans, Male, Microsatellite Repeats, Middle Aged, Molecular Biology, Mutation, Pedigree, Peripherins, genetics, Prevalence, Retinitis Pigmentosa, diagnosis, Retrospective Studies, Tomography, Optical Coherence, Visual Field Tests
Référence
Am. J. Ophthalmol.. 2015 Feb;159(2):302-14