title: Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function.
abstract: One eye of rd12 mice received a sub-retinal injection of a vector carrying normal human RPE65 cDNA at post-natal day 18, and at 6- and 13-months of age. Electroretinograms (ERGs) and visual-evoked potentials (VEPs) were recorded to luminance, and to spatially and temporally modulated stimuli to assess the consequences of delayed treatment on visual pathway function. Early treatment resulted in better overall retinal rescue and better rescue of cone-mediated function. VEPs to low temporal frequency luminance modulation were well preserved at all but the oldest treatment age and corresponded to predictions based on the amount of retinal rescue. In contrast, VEPs to high frequency spatially and temporally modulated stimuli were impaired even at the earliest age. These results provide further support that early treatment in human LCA will have the most hope for optimal visual performance.
authors.affiliation: Department of Ophthalmology, Jules Stein Eye Institute, Los Angeles, CA, USA. nusinowitz@jsei.ucla.edu
authors.forename: S
authors.initials: S
authors.lastname: Nusinowitz
authors.forename: W H
authors.initials: WH
authors.lastname: Ridder
authors.forename: J J
authors.initials: JJ
authors.lastname: Pang
authors.forename: B
authors.initials: B
authors.lastname: Chang
authors.forename: S M
authors.initials: SM
authors.lastname: Noorwez
authors.forename: S
authors.initials: S
authors.lastname: Kaushal
authors.forename: W W
authors.initials: WW
authors.lastname: Hauswirth
authors.forename: J R
authors.initials: JR
authors.lastname: Heckenlively
mesh_terms: D000818:Animals; D001766:Blindness / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D003623:Dark Adaptation; D004195:Disease Models, Animal; D004596:Electroretinography / Q000379:methods; D005074:Evoked Potentials, Visual / Q000502:physiology; D015316:Genetic Therapy / Q000379:methods*; D051379:Mice; D008817:Mice, Mutant Strains; D012160:Retina / Q000503:physiopathology*; D012243:Rhodopsin / Q000378:metabolism; D013997:Time Factors; D014787:Vision Tests / Q000379:methods; D014792:Visual Acuity / Q000502:physiology; D014793:Visual Cortex / Q000503:physiopathology*
chemical_list: D012243:Rhodopsin