PRPF31视网膜色素变性患者的眼功能病程
Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
作者信息
Hafler Brian P, Comander Jason, Weigel DiFranco Carol, Place Emily M, Pierce Eric A
机构信息
a Department of Ophthalmology , Massachusetts Eye and Ear Infirmary , Boston , Massachusetts , USA.
出版信息
Semin Ophthalmol. 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856.
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.
摘要
前体mRNA剪接因子突变是常染色体显性视网膜色素变性的第二大常见病因，也是视力丧失的主要原因。针对由PRPF31突变引起的疾病开发基因增强疗法，需要明确PRPF31相关视网膜色素变性患者的治疗前特征和疾病进展情况。我们发现视野面积每年下降6.9%，30赫兹闪烁视锥细胞反应每年下降9.2%，这两者都与视网膜色素变性的观察速率相似。我们推测，RNA剪接因子性视网膜色素变性将适合通过腺相关病毒介导的基因疗法进行治疗，并且了解PRPF31视网膜色素变性的临床进展速率将有助于基因疗法临床试验的设计。
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