Alexander John J, Umino Yumiko, Everhart Drew, Chang Bo, Min Seok H, Li Qiuhong, Timmers Adrian M, Hawes Norman L, Pang Ji-Jing, Barlow Robert B, Hauswirth William W
Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.
Nat Med. 2007 Jun;13(6):685-7. doi: 10.1038/nm1596. Epub 2007 May 21.
Loss of cone function in the central retina is a pivotal event in the development of severe vision impairment for many prevalent blinding diseases. Complete achromatopsia is a genetic defect resulting in cone vision loss in 1 in 30,000 individuals. Using adeno-associated virus (AAV) gene therapy, we show that it is possible to target cones and rescue both the cone-mediated electroretinogram response and visual acuity in the Gnat2 ( cpfl3 ) mouse model of achromatopsia.
在许多常见致盲疾病导致严重视力损害的发展过程中，中央视网膜视锥细胞功能丧失是一个关键事件。完全性色盲是一种基因缺陷，每30000人中就有1人因之导致视锥细胞视力丧失。利用腺相关病毒（AAV）基因疗法，我们发现在色盲的Gnat2（cpfl3）小鼠模型中，有可能靶向视锥细胞并挽救视锥细胞介导的视网膜电图反应和视敏度。
