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).
Current Research
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.
Bringing a cure into sight: “Gene Therapy in a Spontaneous Canine Model of Primary Open-Angle Glaucoma”
Glaucoma, a disease that affects the inner retina and optic nerve, is a leading cause of incurable vision loss in humans and dogs. Primary open-angle glaucoma (POAG) is the most common form of glaucoma in humans, and it also affects certain canine breeds, such as the beagle. While it is one of the leading causes for blindness, the precise disease mechanisms are poorly understood. Intraocular pressure—increased pressure within the eye—is a major risk factor for POAG and occurs because the outflow pathway for aqueous humor is not functioning properly. The Komáromy Laboratory, supported by a Shaffer Grant from the Glaucoma Research Foundations, is conducting research to evaluate the use of gene therapy to prevent or reverse the clogging of the drainage canals and maintain normal intraocular pressure in individuals with POAG.