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]

Details

Serval ID
serval:BIB_E1F474859187
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
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]
Journal
Klinische Monatsblätter für Augenheilkunde
Author(s)
Millá E., Héon E., Piguet B., Ducrey N., Butler N., Stone E., Schorderet D.F., Munier F.
ISSN
0023-2165
Publication state
Published
Issued date
1998
Peer-reviewed
Oui
Volume
212
Number
5
Pages
305-8
Language
french
Notes
Publication types: English Abstract ; Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Abstract
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.
Keywords
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
Create date
28/01/2008 12:59
Last modification date
20/08/2019 16:06
Usage data