Jacobson Samuel G, Cideciyan Artur V, Roman Alejandro J, Sumaroka Alexander, Schwartz Sharon B, Heon Elise, Hauswirth William W
From the Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.G.J., A.V.C., A.J.R., A.S., S.B.S.); the Departments of Ophthalmology and Vision Sciences, the Hospital for Sick Children, University of Toronto, Toronto (E.H.); and the Department of Ophthalmology, University of Florida, Gainesville (W.W.H.).
N Engl J Med. 2015 May 14;372(20):1920-6. doi: 10.1056/NEJMoa1412965. Epub 2015 May 3.
Retinal gene therapy for Leber's congenital amaurosis, an autosomal recessive childhood blindness, has been widely considered to be safe and efficacious. Three years after therapy, improvement in vision was maintained, but the rate of loss of photoreceptors in the treated retina was the same as that in the untreated retina. Here we describe long-term follow-up data from three treated patients. Topographic maps of visual sensitivity in treated regions, nearly 6 years after therapy for two of the patients and 4.5 years after therapy for the third patient, indicate progressive diminution of the areas of improved vision. (Funded by the National Eye Institute; ClinicalTrials.gov number, NCT00481546.).
视网膜基因疗法用于治疗莱伯先天性黑蒙（一种常染色体隐性遗传性儿童失明症），已被广泛认为是安全有效的。治疗三年后，视力改善得以维持，但治疗视网膜中光感受器的丧失率与未治疗视网膜相同。在此，我们描述了三名接受治疗患者的长期随访数据。两名患者治疗近6年后以及第三名患者治疗4.5年后，治疗区域的视觉敏感度地形图显示视力改善区域逐渐缩小。（由美国国立眼科研究所资助；临床试验.gov编号，NCT00481546。）
