title: Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
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.
authors.affiliation: a Department of Ophthalmology , Massachusetts Eye and Ear Infirmary , Boston , Massachusetts , USA.
authors.forename: Brian P
authors.initials: BP
authors.lastname: Hafler
authors.affiliation: a Department of Ophthalmology , Massachusetts Eye and Ear Infirmary , Boston , Massachusetts , USA.
authors.forename: Jason
authors.initials: J
authors.lastname: Comander
authors.affiliation: a Department of Ophthalmology , Massachusetts Eye and Ear Infirmary , Boston , Massachusetts , USA.
authors.forename: Carol
authors.initials: C
authors.lastname: Weigel DiFranco
authors.affiliation: a Department of Ophthalmology , Massachusetts Eye and Ear Infirmary , Boston , Massachusetts , USA.
authors.forename: Emily M
authors.initials: EM
authors.lastname: Place
authors.affiliation: a Department of Ophthalmology , Massachusetts Eye and Ear Infirmary , Boston , Massachusetts , USA.
authors.forename: Eric A
authors.initials: EA
authors.lastname: Pierce
mesh_terms: D000229:Dependovirus / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D015316:Genetic Therapy; D005822:Genetic Vectors; D006801:Humans; D009154:Mutation; D012326:RNA Splicing / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D005136:Eye Proteins; C454222:PRPF31 protein, human
keywords: Inherited retinal degeneration; RNA splicing factor; retinitis pigmentosa