Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene

To describe the clinical features of and identify the mutation responsible for an autosomal dominant pattern dystrophy occurring in a three-generation family.

Five affected family members underwent clinical examination and additional testing including intravenous fluorescein angiography where indicated. Mutation screening of the peripherin/RDS gene was performed.

Visual acuity ranged from 20/20 to counting fingers. All patients who reported vision loss noted the onset after the age of 40 years. Predominantly perifoveal, discrete, retinal pigment epithelial changes were present in all patients. Two patients had extensive peripheral yellowish flecks, and one had an atrophic macular scar. Mutation screening of the complete peripherin/RDS coding sequence and exon/intron boundaries revealed a novel splice site mutation.

A three-generation family with an autosomal dominant pattern dystrophy arising from a previously unreported splice site mutation in the RDS gene is described.