Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65^-/- knockout mouse eye results in limited rescue.

ABSTRACT:

Background

Leber's congenital amaurosis (LCA) is a severe form of retinal dystrophy. Mutations in the RPE65 gene, which is abundantly expressed in retinal pigment epithelial (RPE) cells, account for approximately 10-15% of LCA cases. In this study we used the high turnover, and rapid breeding and maturation time of the Rpe65^-/- knockout mice to assess the efficacy of using rAAV-mediated gene therapy to replace the disrupted RPE65 gene. The potential for rAAV-mediated gene treatment of LCA was then analyzed by determining the pattern of RPE65 expression, the physiological and histological effects that it produced, and any improvement in visual function.

Methods

rAAV.RPE65 was injected into the subretinal space of Rpe65^-/- knockout mice and

SUBMITTER: Lai CM 

PROVIDER: S-EPMC416492 | biostudies-literature | 2004

REPOSITORIES: biostudies-literature