Restoration of cone vision in a mouse model of achromatopsia.
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.
Alexander
John J
JJ
Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.
Umino
Yumiko
Y
Everhart
Drew
D
Chang
Bo
B
Min
Seok H
SH
Li
Qiuhong
Q
Timmers
Adrian M
AM
Hawes
Norman L
NL
Pang
Ji-Jing
JJ
Barlow
Robert B
RB
Hauswirth
William W
WW
D000818:Animals; D003117:Color Vision Defects / Q000235:genetics / Q000628:therapy*; D004195:Disease Models, Animal; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism; D015316:Genetic Therapy; D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics / Q000378:metabolism; D051379:Mice; D008822:Mice, Transgenic; D017949:Retinal Cone Photoreceptor Cells / Q000502:physiology*
D005136:Eye Proteins; C515337:Gnat2 protein, mouse; D020962:Heterotrimeric GTP-Binding Proteins