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Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa
Journal article   Peer reviewed

Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa

Gerald A Fishman, Kimberlie Vandenburgh, Edwin M Stone, Leonardo D Gilbert, Kenneth R Alexander and Val C Sheffield
Archives of ophthalmology (1960), Vol.110(11), pp.1582-1588
11/1992
DOI: 10.1001/archopht.1992.01080230082026
PMID: 1444916

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Abstract

Two members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-thymine mutation in the second nucleotide of codon 267 in the rhodopsin gene that resulted in a proline-to-leucine change. Two members of another family with autosomal dominant retinitis pigmentosa showed a guanine-to-thymine mutation in the first nucleotide of codon 190 in the rhodopsin gene that resulted in an aspartate-to-tyrosine change. Three members from a third family with autosomal dominant retinitis pigmentosa were also found to have a mutation in codon 190; however, this guanine-to-adenine mutation in the first nucleotide of codon 190 resulted in an aspartate-to-asparagine change. The relatively less severe functional retinal impairment in our patients with a transmembrane codon 267 rhodopsin gene mutation is generally comparable with that observed in a previously described codon 58 transmembrane mutation. The two families with different intradiscal codon 190 mutations showed a considerable difference in severity of their disease.
 Mutation Electroretinography Electrophoresis, Polyacrylamide Gel Humans Middle Aged Molecular Sequence Data Retinitis Pigmentosa - genetics Male Visual Acuity Dark Adaptation Rhodopsin - genetics Pedigree Base Sequence Aged, 80 and over Adult Female Aged Codon - genetics Photic Stimulation Retinitis Pigmentosa - physiopathology

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