Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa
G. A. Fishman, E. M. Stone, L. D. Gilbert and V. C. Sheffield
Department of Ophthalmology, University of Illinois, Chicago 60612.
Three members of one family and one person from another family were found
to have a guanine-to-adenine transition mutation in the first nucleotide of
codon 106 in the rhodopsin gene that results in a glycine-to-arginine
change. All affected members presented with a similar phenotype that
included a regional predilection for pigmentary changes to occur in the
inferior retina as well as visual field impairment predominantly in the
superior hemisphere. The distribution of pigmentary changes, pattern of
visual field loss, and substantial remaining electroretinographic
amplitudes with normal implicit times were consistent with a form of
"sector" retinitis pigmentosa. We documented the association of a distinct
phenotype of autosomal dominant retinitis pigmentosa with a better visual
prognosis and a specific rhodopsin gene mutation.
