April 30, 2024 — For the first time, Prevent Blindness has designated May as Inherited Retinal Disease (IRD) Genetic Testing Awareness Month—an expansion to its previous IRD and Genetic Testing Awareness Week initiative. The nonprofit offers a variety of resources for raising awareness of the importance of genetic testing including a free webinar, expert and patient videos, shareable social media graphics, and fact sheets in English and Spanish.
Caused by a change in one or more genes that cannot be prevented, IRDs change the structure and function of the retina and cause impaired vision, and in some cases, complete vision loss. IRDs are rare, but they progress at different rates and can affect individuals of all ages. Genetic testing can identify many gene variants that cause IRDs like choroideremia, cone-rod dystrophy, Leber congenital amaurosis, retinitis pigmentosa, and Stargardt disease. (Prevent Blindness also launched a webpage of resources dedicated to Stargardt disease, found here.)
“Although there are currently no cures for IRDs, vision loss can be lessened in some cases if IRDs are detected and treated early,” says Jeff Todd, president and CEO of Prevent Blindness. “Through genetic testing, improving access to eye care, and committing to ongoing vision research, we can help save sight for adults and children with IRDs now and into the future.”
The “Inherited Retinal Disorders and Genetic Testing” episode of the Prevent Blindness Focus on Eye Health Expert Series features Alina V. Dumitrescu, M.D., clinical associate professor of ophthalmology and visual sciences, pediatric ophthalmology and strabismus, inherited eye disease at the University of Iowa Hospitals and Clinics, in addition to IRD patient testimonials.
On Wednesday, May 29, at 2 p.m. ET, the National Center for Children’s Vision and Eye Health at Prevent Blindness will be hosting a free webinar, “Pathway to Diagnosis: Genetic Testing for Inherited Retinal Diseases.” Moderated by Dawn DeCarlo, O.D., Ph.D., CEO of Sight Savers America and former director of the University of Alabama’s Center for Low Vision Rehabilitation, the panel comprises Donna Hunt Hodge, MBA, director of marketing and sales, retina gene therapies, Johnson & Johnson; Natario Couser, M.D., board-certified in ophthalmology, medical genetics, and genomics; Rachelle Lin, O.D., MS, FAAO, assistant professor at Southern California College of Optometry at Marshall B. Ketchum University; and Ben Shaberman, MA, MS, vice president, science communications, Foundation Fighting Blindness. Graduates of the Prevent Blindness ASPECT Patient Engagement Program, Joy Thomas and Adriann Keve, will provide patient perspectives.