生物谷报道：佛罗里达大学的研究者运用基因疗法，恢复了一种患有遗传性失明的小鼠的视力，这可能给许多失明患者带来复明的希望。
在这篇发表在5月21日期《Nature Medicine》杂志上的研究性文章中，科学家详细描述了如何使用无毒病毒将正确的基因传递给因遗传缺陷而失明的小鼠。
此项发现表明可以通过靶向、拯救视锥细胞（cone cell）这一视觉清晰度、色觉最为重要的细胞，来医治患者的眼疾。
“ 视锥细胞决定着一些人是否失明，” William W. Hauswirth介绍说，“如果我们能将有用的基因很有针对性地传递给视锥细胞，那就不仅仅是有望治疗遗传性失明，可以说对所有的失明患者都有疗效的。例如，年龄相关性黄斑变性（age-related macular degeneration，AMD）和糖尿视网膜病变（diabetic retinopathy），也有可能通过这种思路进行治疗。”
科学家选用的小鼠模型是患有色盲（achromatopsia）的一种遗传性失明的小鼠，这种疾病通过让视网膜的视锥细胞光受体失去作用，影响着三万分之一的美国人。这种疾病一旦发作，几乎让人彻底丧失色觉，也导致严重的中央视觉损伤。
原始出处：
Nature Medicine (21 May 2007) Brief Communications
Brief Communication
Published online: 21 May 2007; | doi:10.1038/nm1596
Restoration of cone vision in a mouse model of achromatopsia
John J Alexander1, Yumiko Umino2, Drew Everhart2, Bo Chang3, Seok H Min4, Qiuhong Li4, Adrian M Timmers4, 5, Norman L Hawes3, Ji-jing Pang4, Robert B Barlow2 & William W Hauswirth1, 4
1 Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.
2 Center for Vision Research, Department of Ophthalmology, State University of New York Upstate Medical University, Syracuse, New York 13210, USA.
3 The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
4 Department of Ophthalmology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.
5 Present address: Alcon Research Ltd., Fort Worth, Texas 76134, USA.
Correspondence should be addressed to William W Hauswirth hauswrth@eye.ufl.edu
Abstract
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.
