期刊
SEMINARS IN OPHTHALMOLOGY
卷 31, 期 1-2, 页码 49-52出版社
TAYLOR & FRANCIS INC
DOI: 10.3109/08820538.2015.1114856
关键词
Inherited retinal degeneration; retinitis pigmentosa; RNA splicing factor
资金
- NEI NIH HHS [R01 EY020902] Funding Source: Medline
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.
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