Grant: Operating Grant

The goal of this application is to find ways to cure and prevent three forms of genetic blindness (Congenital hereditary endothelial dystrophy, Fuchs endothelial corneal dystrophy and Harboyan syndrome). The cornea is the outmost layer of the eye. In corneal dystrophy diseases, the cornea fills with fluid that makes vision hazy and significantly impairs vision. At present the only treatment for this condition is corneal transplant. The three conditions have in common that they are caused by mutations of a poorly understood gene called SLC4a11. The goal of our studies is to develop treatments for these corneal dystrophies, by testing the way to "fix" the diseased SLC4a11 protein in appropriate mice and cell culture models.