A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation

Abstract

This study documents the ophthalmological findings in a six-generation Swedish family with autosomal dominant retinitis pigmentosa with a previously unknown rhodopsin, exon 2, mutation, Arg-135-Leu (CGG to CTG). Six affected patients from the family were available for analysis and were all found to be heterozygous for the mutation, whereas eight clinically normal family members and 29 unrelated normal individuals did not have it. The disease appears to be of a type with comparatively rapid progression to blindness.

Key Words:

• full-field electroretinogram
• autosomal dominant retinitis pigmentosa
• rhodopsin
• Arg-135-Leu mutation
• polymerase chain reaction