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Brief Communication


Nature Medicine 13, 685 - 687 (2007)
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


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.


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