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Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135–Trp): Disease phenotype in a Swedish family

Ponjavic, Vesna LU ; Abrahamson, Magnus LU ; Andréasson, Sten LU ; Ehinger, Berndt LU and Fex, G (1997) In Acta Ophthalmologica Scandinavica1998-01-01+01:002008-01-01+01:00 75(2). p.218-223
Abstract
We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype.... (More)
We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype. Further, point mutations in this specific region seem to cause an agressive form of retinitis pigmentosa. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Acta Ophthalmologica Scandinavica1998-01-01+01:002008-01-01+01:00
volume
75
issue
2
pages
218 - 223
publisher
Wiley-Blackwell
external identifiers
  • scopus:0030950010
ISSN
1395-3907
language
English
LU publication?
yes
id
cd95bd22-090c-4c97-9a5e-988b530058ce (old id 1112408)
date added to LUP
2008-07-22 11:17:18
date last changed
2017-01-01 07:25:13
@article{cd95bd22-090c-4c97-9a5e-988b530058ce,
  abstract     = {We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype. Further, point mutations in this specific region seem to cause an agressive form of retinitis pigmentosa.},
  author       = {Ponjavic, Vesna and Abrahamson, Magnus and Andréasson, Sten and Ehinger, Berndt and Fex, G},
  issn         = {1395-3907},
  language     = {eng},
  number       = {2},
  pages        = {218--223},
  publisher    = {Wiley-Blackwell},
  series       = {Acta Ophthalmologica Scandinavica1998-01-01+01:002008-01-01+01:00},
  title        = {Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135–Trp): Disease phenotype in a Swedish family},
  volume       = {75},
  year         = {1997},
}