Format

Send to

Choose Destination
See comment in PubMed Commons below
Ophthalmic Genet. 1995 Jun;16(2):39-44.

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.

Author information

1
Secció de Genética Hospital de Sant Joan de Dèu, Barcelona, Spain.

Erratum in

  • Ophthalmic Genet 1995 Dec;16(4):179.

Abstract

The RDS-peripherin gene encodes a photoreceptor-specific protein that is localized in the outer segment disc membranes of both rods and cones. We screened a Spanish family with central areolar choroidal dystrophy for mutations in candidate genes. A base substitution was identified in the RDS-peripherin gene of one patient and DNA sequencing revealed a C-to-T transition in codon 172, arginine being substituted by tryptophan. The mutation was also detected in two asymptomatic family members who showed irregular pigmentation in the retinal pigment epithelium (RPE). The phenotype is similar to other macular dystrophies caused by mutation in the RDS-peripherin gene.

PMID:
7493155
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center