Depistage mutationnel des genes de la peripherine/RDS, rhodopsine et ROM-1 dans 69 cas index de retinite pigmentaire et autres dystrophies retiniennes [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies]

Détails

ID Serval
serval:BIB_E1F474859187
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Depistage mutationnel des genes de la peripherine/RDS, rhodopsine et ROM-1 dans 69 cas index de retinite pigmentaire et autres dystrophies retiniennes [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies]
Périodique
Klinische Monatsblätter für Augenheilkunde
Auteur(s)
Millá E., Héon E., Piguet B., Ducrey N., Butler N., Stone E., Schorderet D.F., Munier F.
ISSN
0023-2165
Statut éditorial
Publié
Date de publication
1998
Peer-reviewed
Oui
Volume
212
Numéro
5
Pages
305-8
Langue
français
Notes
Publication types: English Abstract ; Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
PURPOSE: Phenotypic, genetic and molecular characterization of 69 index patients with retinitis pigmentosa (RP) and various inherited retinal diseases. PATIENTS AND METHOD: patients went through complete ocular examination and blood samples were drawn for mutational screening of three candidate genes: rhodopsin (RHO), peripherin/RDS, and ROM-1. RESULTS: the most frequent type of RP among our population was the autosomal dominant (43.6%). Three RHO mutations were found among the RP patients. A RDS mutation was detected in three unrelated families segregating dominant macular dystrophy. DISCUSSION AND CONCLUSIONS: 18% of the autosomal dominant RP patients presented a RHO mutation; RDS R172W mutation was present in 25% of the dominant macular dystrophies.
Mots-clé
Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Eye Proteins, Female, Fluorescein Angiography, Humans, Intermediate Filament Proteins, Male, Membrane Glycoproteins, Membrane Proteins, Middle Aged, Nerve Tissue Proteins, Pedigree, Phenotype, Retinal Degeneration, Retinitis Pigmentosa, Rhodopsin
Pubmed
Web of science
Création de la notice
28/01/2008 12:59
Dernière modification de la notice
20/08/2019 16:06
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