1. [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].
- Author
-
Millá E, Héon E, Piguet B, Ducrey N, Butler N, Stone E, Schorderet DF, and Munier F
- Subjects
- Adult, Aged, Aged, 80 and over, Female, Fluorescein Angiography, Humans, Male, Middle Aged, Pedigree, Peripherins, Phenotype, Retinal Degeneration diagnosis, Retinitis Pigmentosa diagnosis, Tetraspanins, DNA Mutational Analysis, Eye Proteins genetics, Intermediate Filament Proteins genetics, Membrane Glycoproteins, Membrane Proteins genetics, Nerve Tissue Proteins genetics, Retinal Degeneration genetics, Retinitis Pigmentosa genetics, Rhodopsin genetics
- 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.
- Published
- 1998