Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Eur J Pediatr. 2012 May;171(5):757-65. doi: 10.1007/s00431-011-1615-2. Epub 2011 Nov 15.
Retinal dystrophies are inherited disorders of photoreceptor and retinal pigment epithelial function that may result in severe visual impairment. Advances in molecular genetics have helped identify many of the gene defects responsible, and progress in gene transfer technology has enabled therapeutic strategies to be developed and applied. The first human clinical trials of gene therapy for RPE65 associated retinal dystrophy have shown promising initial results and have helped prepare the way for further trials of gene therapy for inherited retinal disorders. The results of these trials will provide further insight into the safety and efficacy of gene therapy for a range of currently untreatable and debilitating eye disorders.
视网膜营养不良是一种遗传性的光感受器和视网膜色素上皮功能障碍，可能导致严重的视力损害。分子遗传学的进步帮助确定了许多负责的基因缺陷，基因转移技术的进步使治疗策略得以开发和应用。首例针对 RPE65 相关视网膜营养不良的基因治疗人体临床试验取得了有希望的初步结果，为进一步开展遗传性视网膜疾病的基因治疗试验铺平了道路。这些试验的结果将进一步深入了解基因治疗对一系列目前无法治疗和使人衰弱的眼部疾病的安全性和有效性。
