Bringing new questions from the clinic to the laboratory—and returning with answers about disease mechanisms and new treatments for inherited retinal disease.
Inherited retinal and optic nerve diseases are among the leading causes of incurable vision loss in humans and dogs. The Komáromy Lab studies the cellular and molecular disease mechanisms in an attempt to develop new treatment strategies—including gene therapy—to restore visual function.
The eyes of dogs are anatomically similar to human eyes, and genotype/phenotype correlate closely for many inherited eye diseases. New therapies that restore retinal function and sight in dogs can hopefully be translated into treatments for human patients with common retinal disorders, such as retinitis pigmentosa (RP) and age-related macular degeneration (AMD).
The Komáromy Lab primarily studies achromatopsia (also called rod monochromacy or total congenital color blindness), an inherited retinal disease that primarily affects cone photoreceptors. We have recently developed viral-mediated gene replacement therapy to restore day blindness in dogs with achromatopsia, and clinical trials for human patients are being planned by our collaborators.
Another interest of ours is primary open-angle glaucoma (POAG), a disease that affects the inner retina and optic nerve. It is one of the leading causes for blindness, but the precise disease mechanisms are poorly understood. We have developed a valuable model to further investigate the disease mechanisms in POAG, and are developing new therapeutic strategies.