To define the phenotype of a retinal dystrophy associated with a 4-base pair insertion at codon 140 of the peripherin/RDS gene.
Six affected members spanning two generations of a single family were examined. Five were studied in detail electrophysiologically and psychophysically.
Psychophysical testing included color vision testing, photopic and scotopic static threshold perimetry, and dark adaptometry. Electrophysiological testing included flash and pattern electroretinography, as well as electrooculography.
Clinical findings ranged from subtle pigmentary changes at the level of the retinal pigment epithelium to more widespread pigmentary changes associated with choroidal neovascularization. Those with severe fundus changes exhibited greater abnormalities in psychophysical and electrophysiological testing than those with minimal fundus changes.
This particular peripherin/RDS gene mutation is associated with dominantly inherited pattern dystrophy of the retina. The phenotypic expression is variable in a manner not explained by age.
Kim RY, Dollfus H, Keen TJ, et al. Autosomal Dominant Pattern Dystrophy of the Retina Associated With a 4-Base Pair Insertion at Codon 140 in the Peripherin/RDS Gene. Arch Ophthalmol. 1995;113(4):451–455. doi:10.1001/archopht.1995.01100040067029
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