Biology and therapy of inherited retinal degenerative disease: insights from mouse models.

ABSTRACT: Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to uncovering disease mechanisms and designing treatment strategies, especially inspired by the successful application of gene therapy in some forms of congenital blindness in humans. Both spontaneous and laboratory-generated mouse mutants have been valuable for providing fundamental insights into normal retinal development and for deciphering disease pathology. Here, we provide a review of mouse models of human retinal degeneration, with a primary focus on diseases affecting photoreceptor function. W

SUBMITTER: Veleri S 

PROVIDER: S-EPMC4314777 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature