Gene Therapy Restores Mfrp and Corrects Axial Eye Length.

ABSTRACT: Hyperopia (farsightedness) is a common and significant cause of visual impairment, and extreme hyperopia (nanophthalmos) is a consequence of loss-of-function MFRP mutations. MFRP deficiency causes abnormal eye growth along the visual axis and significant visual comorbidities, such as angle closure glaucoma, cystic macular edema, and exudative retinal detachment. The Mfrp ^rd6 /Mfrp ^rd6 mouse is used as a pre-clinical animal model of retinal degeneration, and we found it was also hyperopic. To test the effect of restoring Mfrp expression, we delivered a wild-type Mfrp to the retinal pigmented epithelium (RPE) of Mfrp ^rd6 /Mfrp ^rd6 mice via adeno-associated viral (AAV) gene therapy. Phenotypic rescue was evaluated using non-invasive, human clinical

SUBMITTER: Velez G 

PROVIDER: S-EPMC5701072 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature