Journal article
Mutational screening of peripherine/RDS, rhodopsine and ROM-1 genes in 69 index patients with retinitis pigmentosa and allied retinal dystrophies
Klinische Monatsblätter für Augenheilkunde, Vol.212(5), pp.305-308
05/01/1998
DOI: 10.1055/s-2008-1034890
PMID: 9677563
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 PHO mutation; RDS R172W mutation was present in 25% of the dominant macular dystrophies.
Details
- Title: Subtitle
- Mutational screening of peripherine/RDS, rhodopsine and ROM-1 genes in 69 index patients with retinitis pigmentosa and allied retinal dystrophies
- Creators
- E Milla - Hôpital Ophtalmique Jules-GoninE HeonB PiguetN DucreyN ButlerE StoneD F SchorderetF Munier
- Resource Type
- Journal article
- Publication Details
- Klinische Monatsblätter für Augenheilkunde, Vol.212(5), pp.305-308
- Publisher
- Ferdinand Enke Verlag
- DOI
- 10.1055/s-2008-1034890
- PMID
- 9677563
- ISSN
- 0023-2165
- Number of pages
- 4
- Alternative title
- Depistage mutationnel des genes de la peripherine/RDS, rhodopsine et ROM-1 dans 69 cas index de retinite pigmentaire et autres dystrophies retiniennes
- Language
- French
- Date published
- 05/01/1998
- Academic Unit
- Molecular Physiology and Biophysics; Microbiology and Immunology; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; John and Marcia Carver Nonprofit Genetic Testing Laboratory; Ophthalmology and Visual Sciences
- Record Identifier
- 9984297514102771
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