Header Gradient
News
New Educational Resources on Inherited Retinal Diseases, Importance of Genetic Testing and Services

New Educational Resources on Inherited Retinal Diseases, Importance of Genetic Testing and Services

Inherited Retinal Disease

Prevent Blindness declares Inherited Retinal Disease (IRD) Genetic Testing Week, May 17-23, in effort to provide new educational resources to public

In order to help patients with Inherited Retinal Diseases (IRDs) receive an accurate diagnosis through genetic testing, Prevent Blindness is embarking on a new awareness initiative to educate the public on IRDs, a group of genetic disorders that can cause severe vision loss or total blindness. A recent editorial noted that IRDs are the leading cause of vision loss in persons between 15 and 45 years of age- impacting 1 in every 2,000 people.

To continue the Prevent Blindness mission of preventing blindness and saving sight, the group has declared May 17-23, 2020 as “Inherited Retinal Disease Genetic Testing Week.”  As part of this initiative, Prevent Blindness has created a dedicated webpage (to go live on May 15, 2020) with no-cost educational resources on IRDs, providing detailed information on risk factors, therapy and research options, financial assistance services, the importance of genetic testing, and more. Shareable social media graphics on IRDs are also available. Development of these new resources was supported by a donation from Spark Therapeutics, a gene therapy company striving to challenge the inevitability of genetic disease.

The most common types of IRDs include:

  • Retinitis Pigmentosa
  • Choroideremia
  • Stargardt Disease
  • Cone-rod Dystrophy
  • Leber Congenital Amaurosis

All those diagnosed with IRDs should work with their healthcare professional to develop a disease management plan tailored to the patient’s needs.

Patients with suspected IRDs are encouraged to participate in genetic testing, even those who were tested more than five years ago and did not receive a definitive result. According to the National Institutes of Health, genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test may provide a detailed diagnosis which confirms or rules out most suspected genetic conditions and the test can help determine a person’s chance of developing or passing on a genetic disorder to their children. Free genetic testing is now available from select organizations and commercial businesses, including through the “ID YOUR IRD” program.

“Inherited retinal diseases can have a significant impact on the quality of life for patients, including affecting the ability to work and live independently,” said Jeff Todd, president and CEO of Prevent Blindness. “Fortunately, today there are more therapies being researched than ever before. We encourage patients and their caregivers to educate themselves on steps that can be taken today to save sight for tomorrow.”

“As a leading gene therapy company with a strong commitment to genetic testing for the IRD community, Spark Therapeutics is pleased to support the Prevent Blindness inaugural IRD Genetic Testing Week,” said Dan Chung, DO, MA, ophthalmology therapeutic area leader, Spark Therapeutics. “We encourage patients living with IRDs and caregivers to pursue genetic testing in order to receive a true, genetic diagnosis.”

For more information on IRDs and genetic testing for vision issues, please call Prevent Blindness at (800) 331-2020 or visit https://www.preventblindness.org/inherited-retinal-diseases. For a listing of vision care financial assistance programs in English or Spanish, visit https://www.preventblindness.org/vision-care-financial-assistance-information.

Download a copy of the inherited retinal diseases fact sheet