May is Inherited Retinal Disease Genetic Testing Awareness Month, Prevent Blindness expands on previous weeklong campaign

Prevent Blindness is advocating testing for IRDs including choroideremia, cone-rod dystrophy, Leber Congential Amaurosis, retinitis pigmentosa and Stargardt disease. Image credit: ©natali_mis – stock.adobe.com

Retina specialists can mark their calendars for a new patient education opportunity. Prevent Blindness has named the month of May as Inherited Retinal Disease (IRD) Genetic Testing Awareness Month. The decision serves as an expansion upon the organisation’s previous, weeklong awareness initiative.¹

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 blindness, in some cases. Prevent Blindness is advocating testing for a number of inherited diseases, which include choroideremia, cone-rod dystrophy, Leber Congential Amaurosis, retinitis pigmentosa and Stargardt disease.

During the month of May, Prevent Blindness plans to establish a dedicated webpage with 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 29 May, 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 serve as an important tool for patient support organisations, 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, Prevent Blindness stated.

Reference

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. https://preventblindness.org/inherited-retinal-disease-testing-month/