title: Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.
abstract: We studied the ocular findings in eight unrelated patients with a form of autosomal dominant retinitis pigmentosa and the same cytosine-to-thymine transition in the second nucleotide of codon 347 of the rhodopsin gene. This mutation, detected in leukocyte DNA, corresponds to a substitution of leucine for proline in amino acid 347 of the rhodopsin protein, and, therefore, we designated this form of retinitis pigmentosa as rhodopsin, proline-347-leucine. On average, these patients had significantly smaller visual field areas and smaller electroretinogram amplitudes than 140 unrelated patients of comparable age with dominant retinitis pigmentosa without this mutation. The findings in eight relatives with this mutation from three of these families are presented to provide examples of the variability that exists in the clinical severity of this disease.
authors.affiliation: Berman-Gund Laboratory for the Study of Retinal Degeneration, Massachusetts Eye and Ear Infirmary, Boston 02114.
authors.forename: E L
authors.initials: EL
authors.lastname: Berson
authors.forename: B
authors.initials: B
authors.lastname: Rosner
authors.forename: M A
authors.initials: MA
authors.lastname: Sandberg
authors.forename: C
authors.initials: C
authors.lastname: Weigel-DiFranco
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009755:Night Blindness; D010375:Pedigree; D011392:Proline / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D014794:Visual Fields
chemical_list: D012243:Rhodopsin; D011392:Proline; D007930:Leucine