Prevent Blindness expands IRD and genetic testing awareness
initiative to educate patients on various forms of IRDs, and the
importance of genetic testing to confirm diagnosis and possible
treatments.
CHICAGO, April 24,
2024 /PRNewswire-PRWeb/ -- Prevent Blindness,
the nation's leading nonprofit eye health and safety organization,
has designated May as "Inherited Retinal Disease (IRD) Genetic
Testing Awareness Month," expanding its previous IRD and Genetic
Testing Awareness Week initiative. The group is providing a variety
of tools to promote awareness and education for IRDs and the
importance of genetic testing, including a free webinar, expert and
patient videos, shareable social media graphics, and fact sheets in
English and Spanish. IRD Genetic Testing Awareness Month is
supported by funding from Johnson & Johnson, and Spark®
Therapeutics.
"Through genetic testing, improving access
to eyecare, and committing to ongoing vision research, we can help
save sight for adults and children with IRDs now and into the
future." - Jeff Todd, president and
CEO of Prevent Blindness.
IRD's are caused by a change in one or more genes and cannot be
prevented, according to Duke Health. These mutations change the
structure and function of the retina and cause impaired vision, and
in some cases, complete vision loss. Additionally, IRDs can affect
individuals of all ages, can progress at different rates, and are
rare. Genetic testing is available to identify many gene variants
that cause IRDs.
While there are many IRDs, they include:
Choroideremia- a progressive loss of cells in the retina, the
light-sensitive layer of tissue at the back of the eye, and the
nearby network of blood vessels, called the choroid.
Cone-rod Dystrophy- a group of more than 30 IRDs that affect the
cones and rods, the light sensitive cells found in the retina.
Leber Congenital Amaurosis- a rare disorder that affects both
the peripheral rod cells, central cone cells, and is the most
common cause of inherited blindness in childhood.
Retinitis Pigmentosa (RP)- also known as hereditary retinal
dystrophy, a group of related eye disorders caused by variations in
60 genes that affect the retina. It is the most common inherited
disease of the retina.
Stargardt Disease- also called Stargardt macular dystrophy, the
disease causes damage to the macula, a small area in the center of
the retina that is responsible for sharp, straight-ahead vision.
The disease typically causes central vision loss during childhood
or adolescence.
Later in May, Prevent Blindness will establish a dedicated
webpage, new fact sheets, an expert video, and resources, to
provide education and support for those with Stargardt Disease,
made possible with support from Alkeus Pharmaceuticals.
On Wednesday, May 29, at
2 p.m. ET, the National Center for
Children's Vision and Eye Health at Prevent Blindness will be
hosting the free webinar, "Pathway to Diagnosis: Genetic Testing
for Inherited Retinal Diseases." This webinar is specifically
tailored for families of children with inherited retinal diseases
and visual impairment, patient support organizations, school
nurses, early childhood program staff including Head Start, Early
Intervention and special education professionals, teachers of
students with visual impairments, and healthcare providers. This
webinar is supported by funding from Johnson & Johnson.
Panelists to include:
- Dawn DeCarlo, OD, PhD,
(Moderator) CEO of Sight Savers America and previous Director of
University of Alabama's Center for Low
Vision Rehabilitation
- Donna Hunt Hodge, MBA, Director
of Marketing & Sales Retina Gene Therapies, 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
Patient perspectives to be provided by Joy Thomas and Adriann
Keve, graduates of the Prevent Blindness ASPECT Patient
Engagement Program.
As part of its Focus on Eye Health Expert Series, Prevent
Blindness offers the episode, "Inherited Retinal Disorders and
Genetic Testing," with 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.
IRD patient testimonials include RP patient Brenda Niccum, and cone dystrophy patient
Mariagrazia Buttitta, who share
their specific vision issues and vision impairment journeys.
Additionally, Johnson & Johnson offers the free EyesOnGenes
resource, a comprehensive website for patients and health care
providers with information on IRDs, genetic testing benefits,
community resources and more. Spark Therapeutics offers the Eye
Want 2 Know® educational resource, dedicated to helping patients
understand the genetic causes of IRDs and the potential benefits of
genetic testing.
"Although there are currently no cures for inherited retinal
diseases, vision loss can be lessened in some cases if IRDs are
detected and treated early," said Jeff
Todd, president and CEO of Prevent Blindness. "Through
genetic testing, improving access to eyecare, and committing to
ongoing vision research, we can help save sight for adults and
children with IRDs now and into the future."
For more information on IRDs and genetic testing for vision
issues, visit PreventBlindness.org/inherited-retinal-diseases. To
register for the "Pathway to Diagnosis: Genetic Testing for
Inherited Retinal Diseases" webinar, visit
PreventBlindness.org/IRD-webinar-2024. For a listing of vision care
financial assistance programs in English or Spanish, visit
PreventBlindness.org/vision-care-financial-assistance-information.
About Prevent Blindness
Founded in 1908, Prevent Blindness is the nation's leading
volunteer eye health and safety organization dedicated to fighting
blindness and saving sight. Focused on promoting a continuum of
vision care, Prevent Blindness touches the lives of millions of
people each year through public and professional education,
advocacy, certified vision screening and training, community and
patient service programs and research. These services are made
possible through the generous support of the American public.
Together with a network of affiliates, Prevent Blindness is
committed to eliminating preventable blindness in America. For more
information, visit us at PreventBlindness.org, and follow us on
Facebook, X, Instagram, Threads, LinkedIn and YouTube.
Media Contact
Sarah Hecker, Prevent Blindness,
312.363.6035, shecker@preventblindness.org,
PreventBlindness.org
Twitter
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SOURCE Prevent Blindness