Restoration of cone vision in a mouse model of achromatopsia

被引：185

作者：

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. ^{[1
]}

机构：

[1] Univ Florida, Coll Med, Dept Mol Genet & Microbiol, Gainesville, FL 32610 USA

[2] SUNY Upstate Med Univ, Ctr Vis Res, Dept Ophthalmol, Syracuse, NY 13210 USA

[3] Jackson Lab, Bar Harbor, ME 04609 USA

[4] Univ Florida, Coll Med, Dept Ophthalmol, Gainesville, FL 32610 USA

来源：

NATURE MEDICINE | 2007年 / 13卷 / 06期

关键词：

D O I：

10.1038/nm1596

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 [生物化学与分子生物学]; 081704 [应用化学];

摘要：

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.

引用

收藏

页码：685 / 687

页数：3

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