title: Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.
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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612.
authors.forename: G A
authors.initials: GA
authors.lastname: Fishman
authors.forename: K
authors.initials: K
authors.lastname: Vandenburgh
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
authors.forename: L D
authors.initials: LD
authors.lastname: Gilbert
authors.forename: K R
authors.initials: KR
authors.lastname: Alexander
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D003623:Dark Adaptation; D004591:Electrophoresis, Polyacrylamide Gel; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010775:Photic Stimulation; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics*; D014792:Visual Acuity
chemical_list: D003062:Codon; D012243:Rhodopsin