Prevent Blindness has designated May as its second annual Inherited Retinal Disease (IRD) and Genetic Testing Month, aiming to raise awareness of genetic eye conditions and the importance of early diagnosis. The initiative includes a range of free educational resources for the public and health care professionals, including videos, fact sheets, and online materials available in both English and Spanish.
IRDs are a group of genetic conditions that can cause significant vision loss or blindness and may affect individuals at any age. Genetic testing is available to identify many of the gene variants associated with IRDs, which can assist in diagnosis and connect patients to potential clinical trials.
The group of IRDs includes conditions such as choroideremia, cone-rod dystrophy, Leber congenital amaurosis, retinitis pigmentosa, and Stargardt disease. New educational materials specifically about retinitis pigmentosa are scheduled for release this May.
As part of the observance, Prevent Blindness has set aside the third week of May to focus on Stargardt disease, providing resources for patients and caregivers, including a dedicated webpage with videos and fact sheets.
This year’s activities also feature a new episode of Prevent Blindness’s Focus on Eye Health Series, highlighting a conversation with Bryan and Bradford Manning, cofounders of the nonprofit Two Blind Brothers, who discuss their experience with Stargardt disease.
Other Focus on Eye Health Series episodes related to IRDs include:
- “Stargardt Disease,” with Elias Traboulsi, MD, MEd, pediatric ophthalmologist and geneticist, department of ophthalmology, Cleveland Clinic.
- “Inherited Retinal Disorders and Genetic Testing,” with Alina V. Dumitrescu, MD, clinical associate professor of ophthalmology and visual sciences, pediatric ophthalmology and strabismus, inherited eye disease at the University of Iowa Hospitals and Clinics.
Patient testimonials from individuals living with retinitis pigmentosa and cone dystrophy are also available as part of Prevent Blindness’s ASPECT (Advocacy, Support, Perspective, Empowerment, Communication, and Training) patient engagement program.
The organization’s National Center for Children’s Vision and Eye Health offers the free webinar recordings “Inherited Retinal Diseases and Children's Vision and Eye Health: What You Need to Know” and “Pathway to Diagnosis: Genetic Testing for Inherited Retinal Diseases.”
“Early detection and access to treatment is the key to preventing significant vision loss, including for inherited retinal diseases. And genetic testing may also save sight for patients and their family members,” said Todd. “We encourage the public and health professionals to utilize our various free resources to learn more about IRDs, genetic testing, and steps to take today to save vision in the future.”