Course of Ocular Function in PRPF31 Retinitis Pigmentosa. (3rd March 2016)

• Record Type: Journal Article
• Authors: Hafler, Brian P.; Comander, Jason; Weigel DiFranco, Carol; Place, Emily M.; Pierce, Eric A.
• Is Part Of: Seminars in ophthalmology. Volume 31:Number 1/2(2016)
• Page Start: 49
• Page End: 52
• Publication Date: 2016-03-03
• Subjects: Inherited retinal degeneration -- retinitis pigmentosa -- RNA splicing factor; Ophthalmology -- Periodicals; Eye -- Diseases -- Periodicals; Eye -- Surgery -- Periodicals; 617.7005
• DOI: 10.3109/08820538.2015.1114856
• Languages: English
• ISSNs: 0882-0538

Abstract

ABSTRACT: Mutations in pre-mRNA splicing factors are the second most common cause of autosomal dominant retinitis pigmentosa, and a major cause of vision loss. The development of gene augmentation therapy for disease caused by mutations in PRPF31 necessitates defining pretreatment characteristics and disease progression of patients with PRPF31 -related retinitis pigmentosa. We show rates of decline of visual field area −6.9% per year and 30-Hz flicker cone response of −9.2% per year, which are both similar to observed rates for retinitis pigmentosa. We hypothesize that RNA splicing factor retinitis pigmentosa will be amenable to treatment by AAV-mediated gene therapy, and that understanding the clinical progression rates of PRPF31 retinitis pigmentosa will help with the design of gene therapy clinical trials.