Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.

摘要

PURPOSE: To describe the clinical and molecular genetic findings in members of a family with features of autosomal dominant retinitis pigmentosa (RP) and pattern dystrophy. METHODS: Members of a four-generation family underwent ophthalmoscopic examination, electrophysiologic testing, and screening of blood samples for rhodopsin and peripherin/RDS mutations. RESULTS: Three members of the family had clinical evidence of both RP and pattern dystrophy, and another family member had symptoms suggestive of RP. In one case of pattern dystrophy, pigment deposition in an unusual ring-like configuration was seen. All affected family members were found to have a Pro216Ser mutation in the peripherin/RDS gene on chromosome 6p, a mutation not found in unrelated (normal) spouses or in a normal control population. CONCLUSION: In members of this family, both autosomal dominant RP and pattern dystrophy were associated with a Pro216Ser mutation in the peripherin/RDS gene.