Prevent Blindness declares May Inherited Retinal Disease Genetic Testing Awareness Month to expand knowledge on IRD testing


This initiative will provide a variety of tools to promote awareness and education, including some resources in both English and Spanish.

Image credit: AdobeStock/natali_mis

(Image credit: AdobeStock/natali_mis)

Prevent Blindness has named the month of May as “Inherited Retinal Disease (IRD) Genetic Testing Awareness Month.” This is an expansion from the organization’s previous one week initiative.

An IRD is caused by mutations in one or more genes, changing the structure and function of the retina. This can cause impaired vision, vision loss, or in some cases blindness. Diseases that Prevent Blindness is advocating testing for include choroideremia, cone-rod dystrophy, Leber Congential Amaurosis, retinitis pigmentosa, and Stargardt disease.

During the month of May, Prevent Blindness plants to establish dedicated webpage, new fact sheets, an expert video, and resources, to provide education and support for those with Stargardt Disease. The company notes that these resources are made possible by support from Alkeus Pharmaceuticals.

On May 29, 2024 at 2:00 pm ET, there will be a free webinar titled, “Pathway to diagnosis: Genetic testing for inherited retinal diseases.” This event will be hosted by the National Center for Children’s Vision and Eye Health at Prevent Blindness. The content will focus on families of children with IRDs and vision impairment. The presentation may also be an important tool for patient support organizations, teachers with visually impaired students, and healthcare providers.

The webinar panelists will include:

  • Dawn DeCarlo, OD, PhD, (Moderator) CEO of Sight Savers America and previous Director of University of Alabama’s Center for Low Vision Rehabilitation
  • Sheila Hickson-Curran, MCOptom, FAAO, Medical Affairs Leader, Retina, Johnson & Johnson
  • Natario Couser, MD, board-certified in Ophthalmology and Medical Genetics and Genomics
  • Rachelle Lin, OD, MS, FAAO, Assistant Professor at Southern California College of Optometry at Marshall B Ketchum University
  • Ben Shaberman, MA, MS, Vice President, Science Communications, Foundation Fighting Blindness

Prevent Blindness notes that this webinar is supported by funding from Johnson & Johnson.

For those who want to hear directly from patients with an IRD diagnosis, Prevent Blindness also has an episode of their Focus on Eye Health Expert Series, called “Inherited Retinal Disorders and genetic Testing.” This episode features 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. The episode also includes IRD patient testimonials. Brenda Niccum, a patient with retinitis pigmentosa and Mariagrazia Buttitta, who has cone dystrophy, share their specific vision issues and vision impairment journeys.

IRD Genetic Testing Awareness Month is supported by funding from Johnson & Johnson and Spark Therapeutics.

1. Prevent Blindness Declares May as First-ever Inherited Retinal Disease (IRD) Genetic Testing Awareness Month. Prevent Blindness. Published April 24, 2024. Accessed April 25, 2024.
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