Autosomal Dominant Retinitis Pigmentosa Associated with 1142delG, 1155–1159delGGACG/insAGGGATT and IVS6 –3 to –45del Mutations in PRPF31 Gene.

Abstract

Abstract: : Purpose: To determine the clinical and genetic characteristics of three Japanese families with autosomal dominant retinitis pigmentosa (ADRP) associated with mutations in the PRPF31 gene. Methods: Case reports with clinical findings, and results of fluorescein angiography, electroretinography (ERG), kinetic visual field testing, and DNA analysis. Results: Three mutations in the PRPF31 gene, designated as 1142delG, 1155–1159delGGACG/insAGGGATT, and IVS6 –3 to –45 del, were identified in 3 unrelated Japanese families with ADRP. The clinical features produced by mutations in the PRPF31 gene were extremely variable. There were two asymptomatic obligate carriers in these families. Conclusions: ADRP can be caused by mutations in the PRPF31 gene in about 2% of Japanese patients with ADRP. However, it is important to note that there are obligate carriers who are asymptomatic.

Keywords: gene screening • mutations • retinal degenerations: hereditary