Article: article from journal or magazin.
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]
Klinische Monatsblätter für Augenheilkunde
Publication types: English Abstract ; Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
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.
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
Web of science
Last modification date