Variable Phenotypic Expressivity in a Swiss Family With Autosomal Dominant Retinitis Pigmentosa Due to Mutation T494m in the Prpf3 Gene

Abstract

Purpose: : to describe the clinical features in a five generations family segregating autosomal dominant retinitis pigmentosa and to identify the causative gene

Results: : Age of onset of nightblindness and severity of progression of the disease was variable between members of the family. Some patients had early onset of nightblindess aged 3, others at mid-twenties. Most patients had visual acuity above 0.6 for the first 4 decades. Two older patients still had good vision (0.4) in their seventies. Myopia (range: -2 to -5) was noticed in most affected subjects. Fundus findings showed areas of atrophy along the arcades. The AF imaging showed a large high density ring bilaterally. A T494M change was found in exon 11 of PRPF3 gene. The change segregates with the disease in the family.

Keywords: genetics • degenerations/dystrophies • retina