Department of Genetics, UCL Institute of Ophthalmology, London, UK.
Gene Ther. 2012 Feb;19(2):154-61. doi: 10.1038/gt.2011.161. Epub 2011 Oct 27.
Over the last decade, gene supplementation therapy for inherited retinal degeneration has come of age. Early proof-of-concept studies in animal models of disease showed modest, but genuine improvements in retinal function and/or survival. Further development of the vectors used for gene transfer to the retina has led to better treatment efficacy in a wide variety of animal models, leading in 2008 to the initiation of three clinical trials for Leber congenital amaurosis caused by retinal pigment epithelium 65 deficiency. The results from these trials suggest that the treatment of inherited retinal dystrophy by gene therapy can be safe and effective. Here, we examine the progress of gene supplementation therapy in the retina, and discuss the potential for using gene therapy to treat different forms of inherited retinal degeneration.
在过去的十年中，遗传性视网膜变性的基因补充治疗已经成熟。在疾病的动物模型中的早期概念验证研究表明，视网膜功能和/或存活有适度但真实的改善。用于将基因转移到视网膜的载体的进一步开发导致了各种动物模型中更好的治疗效果，这导致 2008 年开始了三种由视网膜色素上皮 65 缺乏引起的莱伯先天性黑矇的临床试验。这些试验的结果表明，基因治疗可以安全有效地治疗遗传性视网膜营养不良。在这里，我们检查了视网膜中基因补充治疗的进展，并讨论了使用基因治疗治疗不同形式的遗传性视网膜变性的潜力。
