Advanced

A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267–Leu

Ponjavic, Vesna LU ; Abrahamson, Magnus LU ; Andréasson, Sten LU ; Ehinger, Berndt LU ; Fex, Göran and Polland, W (1997) In Ophthalmic Genetics 18(2). p.63-70
Abstract
By screening blood samples from patients with autosomal dominant retinitis pigmentosa, we found in one of the families a rhodopsin mutation (Pro-267-Leu), which segregates with the disease in two affected and five unaffected family members. Here, we present the results of the clinical evaluation of the family, including full-field electroretinography from the two affected family members. A 25-year-old family member with the mutation had an almost normal electrophysiological retinal response. The patient's father, who was also heterozygous for the mutation and had mild subjective symptoms of retinitis pigmentosa, demonstrated a substantially preserved retinal function. Our results suggest that the Pro-267-Leu rhodopsin mutation is... (More)
By screening blood samples from patients with autosomal dominant retinitis pigmentosa, we found in one of the families a rhodopsin mutation (Pro-267-Leu), which segregates with the disease in two affected and five unaffected family members. Here, we present the results of the clinical evaluation of the family, including full-field electroretinography from the two affected family members. A 25-year-old family member with the mutation had an almost normal electrophysiological retinal response. The patient's father, who was also heterozygous for the mutation and had mild subjective symptoms of retinitis pigmentosa, demonstrated a substantially preserved retinal function. Our results suggest that the Pro-267-Leu rhodopsin mutation is associated with a very mild phenotype of retinitis pigmentosa. Young patients with the disease may have minimal pathological changes in the electroretinogram and some patients with few symptoms may be affected without acquiring a diagnosis of eye disease. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Ophthalmic Genetics
volume
18
issue
2
pages
63 - 70
publisher
Taylor & Francis
external identifiers
  • scopus:0030854658
ISSN
1744-5094
language
English
LU publication?
yes
id
8481629e-c487-4930-9080-085ec8c6d632 (old id 1112418)
date added to LUP
2008-07-22 11:31:25
date last changed
2017-10-22 04:38:06
@article{8481629e-c487-4930-9080-085ec8c6d632,
  abstract     = {By screening blood samples from patients with autosomal dominant retinitis pigmentosa, we found in one of the families a rhodopsin mutation (Pro-267-Leu), which segregates with the disease in two affected and five unaffected family members. Here, we present the results of the clinical evaluation of the family, including full-field electroretinography from the two affected family members. A 25-year-old family member with the mutation had an almost normal electrophysiological retinal response. The patient's father, who was also heterozygous for the mutation and had mild subjective symptoms of retinitis pigmentosa, demonstrated a substantially preserved retinal function. Our results suggest that the Pro-267-Leu rhodopsin mutation is associated with a very mild phenotype of retinitis pigmentosa. Young patients with the disease may have minimal pathological changes in the electroretinogram and some patients with few symptoms may be affected without acquiring a diagnosis of eye disease.},
  author       = {Ponjavic, Vesna and Abrahamson, Magnus and Andréasson, Sten and Ehinger, Berndt and Fex, Göran and Polland, W},
  issn         = {1744-5094},
  language     = {eng},
  number       = {2},
  pages        = {63--70},
  publisher    = {Taylor & Francis},
  series       = {Ophthalmic Genetics},
  title        = {A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267–Leu},
  volume       = {18},
  year         = {1997},
}