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Article

Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.

The British journal of ophthalmology - 1 May 1994

Owens S L, Fitzke F W, Inglehearn C F, Jay M, Keen T J, Arden G B, Bhattacharya S S, Bird A C

Abstract excerpt

A lysine to glutamic acid substitution at codon 296 in the rhodopsin gene has been reported in a family with autosomal dominant retinitis pigmentosa. This mutation is of particular functional interest as this lysine molecule is the binding site of 11-cis-retinal. The clinical features of a family with this mutation have not been reported previously. We examined 14 patients with autosomal dominant retinitis...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 8025068
DOI: 10.1136/bjo.78.5.353
PMCID: PMC504786

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