Objective: Mutations of the peripherin/RDS gene have been reported in several kinds of retinal dystrophy, and they show a variety of manifestations. The authors identified a novel Val200Glu mutation of the peripherin/RDS gene in a Japanese family with autosomal dominant cone-rod dystrophy (CRD). This report describes a genotype-phenotype correlation of the Val200Glu mutation.
Patients and methods: Fifteen members of one Japanese family with autosomal dominant CRD were screened for mutations in the peripherin/RDS and ROM 1 genes. Clinical features were identified by visual acuity, visual field testing, fundus examination, and electroretinography.
Results: A Val200Glu mutation was found in all of the affected family members examined and was segregated with the disease. No patient had a mutation in the ROM 1 gene. Phenotypic characteristics of each affected member in this family showed intrafamilial similarity. Characteristic features included cone function more severely impaired than rod function and degenerative change in the macular region associated with peripheral retinal degeneration.
Conclusion: The mutation at codon 200 of the peripherin/RDS gene causes both cone and rod degeneration. The Val200Glu mutation results in a type of autosomal dominant CRD.