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A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration

Ekström, Ulf LU ; Andréasson, Sten LU ; Ponjavic, Vesna LU ; Abrahamson, Magnus LU ; Sandgren, Ola; Nilsson-Ehle, Peter LU and Ehinger, Berndt LU (1998) In Ophthalmic Genetics 19(3). p.149-156
Abstract
PURPOSE: To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven patients with autosomal dominant retinitis pigmentosa and three healthy family members. Denaturing gradient gel electrophoresis (DGGE) was used for mutation screening in seven patients and six healthy members of the family. RESULTS: Three of four siblings from the middle generation and four of the younger generation were heterozygous for the peripherin /RDS Arg-172-Trp mutation. The mutation segregated with the disease. Visual... (More)
PURPOSE: To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven patients with autosomal dominant retinitis pigmentosa and three healthy family members. Denaturing gradient gel electrophoresis (DGGE) was used for mutation screening in seven patients and six healthy members of the family. RESULTS: Three of four siblings from the middle generation and four of the younger generation were heterozygous for the peripherin /RDS Arg-172-Trp mutation. The mutation segregated with the disease. Visual acuity decreased progressively with age and visual fields were moderately constricted in young patients, while central scotoma and constriction of the fields were detected in the family members above 50 years of age. The results from full-field electrography were comparable with a widespread retinal degeneration. CONCLUSIONS: Earlier, the peripherin/RDS Arg-172-Trp mutation was associated primarily with a macular degeneration phenotype. One previous study indicated that this mutation also can give rise to a degeneration of the more peripheral parts of the retina. In the present study, a widespread retinal degeneration is seen in the patients above 50 years of age, carrying the Arg-172-Trp mutation. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Ophthalmic Genetics
volume
19
issue
3
pages
149 - 156
publisher
Taylor & Francis
external identifiers
  • pmid:9810570
  • scopus:0031736241
ISSN
1744-5094
DOI
10.1076/opge.19.3.149.2186
language
English
LU publication?
yes
id
9ab34eeb-c625-4a58-a422-d9f3466aa533 (old id 1112976)
date added to LUP
2008-07-14 09:41:05
date last changed
2017-01-01 07:00:56
@article{9ab34eeb-c625-4a58-a422-d9f3466aa533,
  abstract     = {PURPOSE: To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven patients with autosomal dominant retinitis pigmentosa and three healthy family members. Denaturing gradient gel electrophoresis (DGGE) was used for mutation screening in seven patients and six healthy members of the family. RESULTS: Three of four siblings from the middle generation and four of the younger generation were heterozygous for the peripherin /RDS Arg-172-Trp mutation. The mutation segregated with the disease. Visual acuity decreased progressively with age and visual fields were moderately constricted in young patients, while central scotoma and constriction of the fields were detected in the family members above 50 years of age. The results from full-field electrography were comparable with a widespread retinal degeneration. CONCLUSIONS: Earlier, the peripherin/RDS Arg-172-Trp mutation was associated primarily with a macular degeneration phenotype. One previous study indicated that this mutation also can give rise to a degeneration of the more peripheral parts of the retina. In the present study, a widespread retinal degeneration is seen in the patients above 50 years of age, carrying the Arg-172-Trp mutation.},
  author       = {Ekström, Ulf and Andréasson, Sten and Ponjavic, Vesna and Abrahamson, Magnus and Sandgren, Ola and Nilsson-Ehle, Peter and Ehinger, Berndt},
  issn         = {1744-5094},
  language     = {eng},
  number       = {3},
  pages        = {149--156},
  publisher    = {Taylor & Francis},
  series       = {Ophthalmic Genetics},
  title        = {A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration},
  url          = {http://dx.doi.org/10.1076/opge.19.3.149.2186},
  volume       = {19},
  year         = {1998},
}