Objective: Mutations of the peripherin/RDS gene have been reported in several kinds of retinal dystrophy, and they show variation of manifestation. In some pedigrees, the same mutation can produce different phenotypic features, a factor that makes it difficult to deduce certain rules for genotype-phenotype correlations in the peripherin/RDS gene. The authors report the phenotypic features of a Japanese family with a mutation in codon 172 of the peripherin/RDS gene and compare them to previously reported ocular findings in British pedigrees with the same mutation.
Patients and methods: A 45-year-old man and his 15-year-old son were screened for mutations in the peripherin/RDS gene and the ROM1 gene. Clinical features were characterized by visual acuity and visual field testing, fundus examination, fluorescein angiography, and electroretinography.
Results: Both patients had the same mutation in codon 172 of the peripherin/RDS gene designated as Arg172Trp. No mutation was found in the ROM1 gene in either patient. Clinical features were summarized as autosomal dominant macular dystrophy. The father had sharply demarcated chorioretinal atrophy in the macula. The son showed mild granularity in the macular area in ophthalmoscopic appearances.
Conclusions: The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy. This particular phenotype was caused by the monogenic mutation in the peripherin/RDS gene.