A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation
S Andréasson, B Ehinger… - Ophthalmic paediatrics …, 1992 - Taylor & Francis
S Andréasson, B Ehinger, M Abrahamson, G Fex
Ophthalmic paediatrics and genetics, 1992•Taylor & FrancisThis 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.
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.
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.
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