Washington University School of Medicine, 660 South Euclid Avenue, Box 8096, St. Louis, MO 63110, USA.
Cell. 2018 Mar 22;173(1):5. doi: 10.1016/j.cell.2018.03.021.
Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore the visual cycle and some vision. To view this Bench to Bedside, open or download the PDF.
RPE65 基因的双等位基因突变与遗传性视网膜退行性疾病/营养不良（IRD）有关，并破坏视觉循环，导致视力丧失。一种新的腺相关病毒载体为基础的基因治疗方法通过手术递送至视网膜细胞，提供正常的人 RPE65 蛋白，可以恢复视觉循环和一些视力。要查看这个从实验室到临床的转化，请打开或下载 PDF。
