In the words of Dr. Dawn DeCarlo…
“Inherited Retinal Diseases can be difficult to diagnose – especially in early stage – but genetic testing can help solidify a diagnosis. You might be wondering, ‘Why is this important, and do patients really need genetic testing if there’s no treatment currently available?’
Many of these conditions are rare and present similarly, so it’s not uncommon for patients with IRDs to have a generic (for example, rod dysfunction) or a wrong diagnosis at some point in their lives. Just knowing what specific, accurate diagnosis a patient has can make a huge difference for them in how they think of their disease. Genetic testing provides answers, not only for patients but for their family members too. Many of my patients want to be tested so that they can be more sure of the inheritance pattern.
Genetic testing puts an end to the guessing. Being able to give your patients the resources to get genetically tested gives them disease education and peace of mind, and it also puts them on a path to being their own best advocate as new clinical trials become available.
In my work in low vision rehabilitation, I’ve seen the challenges faced by patients from a health care provider’s perspective, and I urge others to encourage their patients to seek genetic testing. Saying ‘There’s nothing to be done’ can no longer be an option. Offering patients information about genetic testing or referral to a resource for testing is one more way low vision rehabilitation practitioners can empower their patients.”
Dr. Dawn DeCarlo, University of Alabama Birmingham (UAB) Department of Ophthalmology and Visual Sciences. In addition to serving as a professor and director of the Center for Low Vision Rehabilitation (CLVR) at UAB, a center for low vision rehabilitation and genetic testing, Dr. DeCarlo is a strong advocate for genetic testing for people living with IRDs. She is a Fellow of the American Academy of Optometry and a Diplomate of the Low Vision Section.
