Course of Ocular Function in PRPF31 Retinitis Pigmentosa
BP Hafler, J Comander, C Weigel DiFranco… - Seminars in …, 2016 - Taylor & Francis
BP Hafler, J Comander, C Weigel DiFranco, EM Place, EA Pierce
Seminars in ophthalmology, 2016•Taylor & FrancisMutations 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 …
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 …
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.
