National nonprofit organization Prevent Blindness provides patients, care partners and healthcare professionals, with information and materials on IRDs and genetic testing
Prevent Blindness has declared May 15-21, 2023, as the fourth annual “Inherited Retinal Disease (IRD) Genetic Testing Week.” An IRD is a genetic disorder that can cause severe vision loss or even blindness. IRDs include Retinitis Pigmentosa (RP), Choroideremia, Stargardt Disease, Cone-rod Dystrophy and Leber Congenital Amaurosis. Early detection and treatment can help to prevent significant vision loss. Genetic testing is now available to identify many gene variants that cause IRDs.
To help raise awareness and educate the public on IRDs and the importance of genetic testing, Prevent Blindness offers a dedicated web resource, PreventBlindness.org/inherited-retinal-diseases. Educational videos, shareable social media graphics, and fact sheets in English and Spanish are available.
On Tuesday, May 16, at 3 p.m. ET, the National Center for Children’s Vision and Eye Health at Prevent Blindness will be hosting the free webinar, “Inherited Retinal Diseases and Children’s Vision and Eye Health: What You Need to Know.” This webinar is designed for a wide audience, including parents and families, school nurses, Head Start and other early childhood program staff, early intervention and special education professionals, teachers of students with visual Impairments, state vision rehabilitation staff, parent and patient support organizations, primary care providers, and eye care providers.
Panelists to include:
- Donna Hunt Hodge, MBA, Director of Marketing, Retina Gene Therapies, Janssen Pharmaceutical Companies of Johnson & Johnson
- Arlene Drack, MD, Ronald Keech Professor of Pediatric Genetic Eye Disease Research, Director, Electrophysiology, Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa
- Sherry Day, OD, FAAO, Clinical Assistant Professor, Ophthalmology and Visual Sciences Section Leader, Vision Care, Contact Lens and Low Vision Rehabilitation, University of Michigan
- Kari Branham, MS, CGC, Clinical Assistant Professor, Ophthalmology and Visual Sciences and Genetic Counselor, Inherited Retinal Dystrophy Clinic, University of Michigan
- Mariagrazia Buttitta, MA, NCC, Patient with Cone Dystrophy, and national Certified Counselor, author, motivational speaker, career coach, wellness and health enthusiast, and mental health and disability advocate
- Allison Galloway, FNP-C, MS, SA, Parent of two children with LCA13, a childhood degenerative retinal disease and certified Family Nurse Practitioner, master’s prepared in Food and Science, and a certified Surgery Assistant
Additionally, as part of the Prevent Blindness Focus on Eye Health Expert Series, 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, is featured in the episode, “Inherited Retinal Disorders and Genetic Testing.”
Also, two graduates of the ASPECT (Advocacy, Support, Perspective, Empowerment, Communication and Training) Patient Engagement Program at Prevent Blindness, share their perspective and experience of living with an IRD. Brenda Niccum, who has RP, and Mariagrazia Buttitta, who has cone dystrophy, discuss their conditions as well as ways they manage their vision impairments. Founded in 2020, ASPECT aims to equip participants with knowledge, skills, and confidence to become advocates for vision and eye health at the individual, peer-to-peer, community, state and/or national levels.
The 2023 IRD Genetic Testing Week at Prevent Blindness is supported by Janssen Pharmaceutical Companies of Johnson & Johnson and Spark® Therapeutics, a fully integrated company and member of the Roche group. Janssen offers the EyesOnGenes resource, a comprehensive website for patients and health care providers with information on IRDs, genetic testing benefits, community resources and more. Spark offers educational resources on IRDs and genetic testing through the Eye Want 2 Know® website.
Prevent Blindness strongly encourages patients to talk to their eye doctors about genetic testing. Having the genetic diagnosis will help to identify potential treatment options for patients, inform them about the potential risk of disease to other family members and identify the potential risk to other organs in the patient’s body that may be affected.
For those interested in participating, the Prevent Blindness Living Well With Low Vision resource has a dedicated listing of clinical trials for diseases of the retina. The newly redesigned site also provides free resources for low vision patients, including the “Self-help Guide to Non-Visual Skills,” and care partners, such as “The ABCs of Caring for the Visually Impaired.”
“The many recent advancements in treatment for eye diseases have been truly remarkable,” said Jeff Todd, president and CEO of Prevent Blindness. “By providing IRD patients with the resources they need to learn more about their diagnosis, as well as how gene therapy may benefit them, we are working to continue to preserve vision.”
For more information on IRDs and genetic testing for vision issues, visit PreventBlindness.org/inherited-retinal-diseases. To register for the Inherited Retinal Diseases and Children’s Vision and Eye Health: What You Need to Know webinar, visit PreventBlindness.org/ird-webinar. For a listing of vision care financial assistance programs in English or Spanish, visit PreventBlindness.org/vision-care-financial-assistance-information.
