A SWEDISH FAMILY WITH A MUTATION IN THE PERIPHERIN RDS GENE (ARG-172-TRP) ASSOCIATED WITH A PROGRESSIVE RETINAL DEGENERATION/

Purpose: To clinically characterize a Swedish family with autosomal do minant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the per ipherin/RDS gene. Methods: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and fu ll-field electroretinography in seven patients with autosomal dominant retinitis pigmentosa and three healthy family members. Denaturing gra dient gel electrophoresis (DGGE) was used for mutation screening in se ven patients and six healthy members of the family. Results: Three of four siblings from the middle generation and four of the younger gener ation were heterozygous for the peripherin/ RDS Arg-172-Trp mutation. The mutation segregated with the disease. Visual acuity decreased prog ressively with age and visual fields were moderately constricted in yo ung patients, while central scotoma and constriction of the fields wer e detected in the family members above 50 years of age. The results fr om full-field electrography were comparable with a widespread retinal degeneration. Conclusions: Earlier, the peripherin/RDS Arg-172-Trp mut ation was associated primarily with a macular degeneration phenotype, One previous study indicated that this mutation also can give rise to a degeneration of the more peripheral parts of the retina. In the pres ent study, a widespread retinal degeneration is seen in the patients a bove 50 years of age, carrying the Arg-172-Trp mutation.