Disease mechanisms of cone opsin mutants and treatment strategies

In the human retina, the central macula, responsible for our daylight, color, and fine spatial vision, is primarily composed of L- and M-cones, and mutations in the L- and M-opsin genes result in a variety of vision disorders. Our proposed study aims to understand disease mechanisms associated with different categories of cone opsin mutations, including point mutations and mutations disrupting cone opsin dimerization. This research will improve our understanding of the unique disease mechanisms associated with different cone opsin mutants, and offer the possibility of testing targeted innovative therapeutic strategies other than simple gene replacement therapy.