Restoration of cone vision in a mouse model of achromatopsia
JJ Alexander, Y Umino, D Everhart, B Chang, SH Min… - Nature medicine, 2007 - nature.com
JJ Alexander, Y Umino, D Everhart, B Chang, SH Min, Q Li, AM Timmers, NL Hawes, J Pang…
Nature medicine, 2007•nature.comLoss 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.
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.
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 Gnat2cpfl3 mouse model of achromatopsia.
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