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Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina


Weigell-Weber, Maike; Kryenbühl, Christoph; Büchi, Ernst R; Spiegel, Roland (1996). Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina. Molecular Vision, 2:6.

Abstract

PURPOSE: Mutations in the retinal degeneration slow (RDS)/peripherin gene have been shown to be associated with pattern dystrophy of the retina (PDR) and other retinal dystrophies. The aim of our study was to confirm or exclude the RDS locus and the rhodopsin (RHO) locus as the disease causing locus in a large Swiss family affected with pattern dystrophy of the retina.

MATERIALS AND METHODS: A Swiss family with 14 members across 3 generations affected with PDR was examined. Eleven living family members were investigated using 6 markers surrounding the RDS and RHO loci.

RESULTS: Linkage to two possible candidate genes, the RDS gene on chromosome 6p and the rhodopsin gene on chromosome 3q, could be excluded.

CONCLUSIONS: The family provides evidence for genetic heterogeneity of PDR and is in agreement with heterogeneity in other retinal dystrophies. Further investigations are in progress to map the gene causing PDR in this family.

Abstract

PURPOSE: Mutations in the retinal degeneration slow (RDS)/peripherin gene have been shown to be associated with pattern dystrophy of the retina (PDR) and other retinal dystrophies. The aim of our study was to confirm or exclude the RDS locus and the rhodopsin (RHO) locus as the disease causing locus in a large Swiss family affected with pattern dystrophy of the retina.

MATERIALS AND METHODS: A Swiss family with 14 members across 3 generations affected with PDR was examined. Eleven living family members were investigated using 6 markers surrounding the RDS and RHO loci.

RESULTS: Linkage to two possible candidate genes, the RDS gene on chromosome 6p and the rhodopsin gene on chromosome 3q, could be excluded.

CONCLUSIONS: The family provides evidence for genetic heterogeneity of PDR and is in agreement with heterogeneity in other retinal dystrophies. Further investigations are in progress to map the gene causing PDR in this family.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Ophthalmology
Uncontrolled Keywords:Genetics
Language:English
Date:20 June 1996
Deposited On:18 Apr 2023 14:50
Last Modified:29 Mar 2024 04:33
Publisher:Molecular Vision
ISSN:1090-0535
OA Status:Gold
Free access at:Official URL. An embargo period may apply.
Official URL:http://www.molvis.org/molvis/v2/a6/
Related URLs:http://www.emory.edu/molvis/v2/weigell (Organisation)
PubMed ID:9238083
  • Content: Published Version
  • Language: English