Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135–Trp): Disease phenotype in a Swedish family
Author
Summary, in English
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.
Publishing year
1997
Language
English
Pages
218-223
Publication/Series
Acta Ophthalmologica Scandinavica
Volume
75
Issue
2
Document type
Journal article
Publisher
Wiley
Topic
- Ophthalmology
Status
Published
ISBN/ISSN/Other
- ISSN: 1395-3907