AUTOSOMAL-DOMINANT PATTERN DYSTROPHY OF THE RETINA ASSOCIATED WITH A 4-BASE PAIR INSERTION CODON-140 IN THE PERIPHERIN RDS GENE/

Objective: To define the phenotype of a retinal dystrophy associated w ith a 4-base pair insertion at codon 140 of the peripherin/RDS gene. P atients: Six affected members spanning two generations of a single fam ily were examined. Five were studied in detail. electrophysiologically and psychophysically. Methods: Psychophysical testing included color vision testing, photopic and scotopic static threshold perimetry, and dark adaptometry. Electrophysiological testing included flash and patt ern electroretinography, as well as electrooculography. Results: Clini cal findings ranged from subtle pigmentary changes at the level of the retinal pigment epithelium to more widespread pigmentary changes asso ciated with choroidal neovascularization. Those with severe fundus cha nges exhibited greater abnormalities in psychophysical and electrophys iological testing than those with minimal fundus changes. Conclusions: This particular peripherin/RDS gene mutation is associated with domin antly inherited pattern dystrophy of the retina. The phenotypic expres sion is variable in a manner not explained by age.