Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.

PURPOSE Because several macular dystrophies are caused by mutations in the peripherin/RDS gene, we examined autosomal dominant and sporadic cases of central areolar choroidal dystrophy for mutations in the peripherin/RDS gene. METHODS DNA sequence analysis of the peripherin/RDS gene was performed in four sporadic cases and in ten affected and nine unaffected individuals from seven families with autosomal dominant central areolar choroidal dystrophy. RESULTS An Arg-142-Trp mutation in the peripherin/RDS gene was found in ten affected family members in seven families. Among these, a 69-year-old man with the Arg-142-Trp mutation, who was unaffected six years before blood sample analysis, showed a parafoveal area of chorioretinal atrophy. The 65-year-old sister of this family had the Arg-142-Trp mutation with no macular abnormalities, but she might still develop central areolar choroidal dystrophy at an older age. No mutation was found in the four sporadic cases. CONCLUSION Autosomal dominant central areolar choroidal dystrophy, studied in seven families, is caused by an Arg-142-Trp mutation in the peripherin/RDS gene.