title: Restoration of cone vision in a 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 Gnat2 ( cpfl3 ) mouse model of achromatopsia.
authors.affiliation: Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.
authors.forename: John J
authors.initials: JJ
authors.lastname: Alexander
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Umino
authors.forename: Drew
authors.initials: D
authors.lastname: Everhart
authors.forename: Bo
authors.initials: B
authors.lastname: Chang
authors.forename: Seok H
authors.initials: SH
authors.lastname: Min
authors.forename: Qiuhong
authors.initials: Q
authors.lastname: Li
authors.forename: Adrian M
authors.initials: AM
authors.lastname: Timmers
authors.forename: Norman L
authors.initials: NL
authors.lastname: Hawes
authors.forename: Ji-Jing
authors.initials: JJ
authors.lastname: Pang
authors.forename: Robert B
authors.initials: RB
authors.lastname: Barlow
authors.forename: William W
authors.initials: WW
authors.lastname: Hauswirth
mesh_terms: 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*
chemical_list: D005136:Eye Proteins; C515337:Gnat2 protein, mouse; D020962:Heterotrimeric GTP-Binding Proteins