OCULAR FINDINGS IN PATIENTS WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND CYS110PHE, ARG135GLY, AND GLN344STOP MUTATIONS OF RHODOPSIN

This report describes ocular findings obtained in four patients from t hree families with autosomal dominant retinitis pigmentosa (adRP) due to missense mutations in the rhodopsin gene. Phenotypes were character ized by standard ophthalmologic examinations, visual fields, electrore tinography (ERG), dark adaptation, and two-color dark-adapted threshol d perimetry. Two patients aged 38 and 45 years, respectively, from a f amily with the Cys110Phe mutation showed mild fundus changes without b one spicules as well as small arcuate scotomas in the inferior quadran ts of their visual fields but displayed severe functional loss of rods and cones in the ERG. Two-color dark-adapted threshold perimetry reve aled a regional type of degeneration, A 48-year-old patient with an Ar g135Gly mutation had typical RP with concentrically narrowed visual fi elds and nondetectable ERG responses. Central visual functions were we ll preserved for a long time, Two-color dark-adapted threshold perimet ry indicated a diffuse type of retinal degeneration. An 18-year-old pa tient with a Gln344stop mutation has been followed for 13 years. His E RG was clearly reduced at the age of 5 years; since that time, disease progression has been very slow. Currently, there are relatively mild alterations in visual acuity, rod sensitivity, and visual fields. Our findings confirm that there is a large phenotypic variety among patien ts with adRP and different rhodopsin mutations.