Journal
NATURE MEDICINE
Volume 13, Issue 6, Pages 685-687Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nm1596
Keywords
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Funding
- NEI NIH HHS [P30 EY008571, R01 EY011123, EY008571, P30 EY021721, EY00667, EY007758, R01 EY000667, EY007132, F32 EY017246, R56 EY000667, EY017246, R01 EY007758, T32 EY007132, EY011123] Funding Source: Medline
- NINDS NIH HHS [NS36302, P01 NS036302] Funding Source: Medline
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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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