Intended for a U.S. audience.

Understand genetic testing

Inherited retinal diseases (also called inherited retinal dystrophies, or IRDs) are a group of rare eye disorders caused by an inherited gene mutation and can result in vision loss or blindness. Common IRDs include retinitis pigmentosa (RP), choroideremia (CHM), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD) and juvenile macular degeneration (JMD). Stargardt disease is the most common form of inherited juvenile macular degeneration.

There are more than 260 genes known to cause these inherited retinal conditions, and the availability of genetic testing has opened doors and brought information and clarity to those living with one of these rare eye diseases.

With research efforts intensifying, it is more critical than ever to speak with your doctor about genetic testing. Today there are more than 100 recruiting, enrolling or active clinical studies for inherited retinal diseases on clinicaltrials.gov, the national resource housing information on all clinical studies across the country.

If you were previously tested more than five years ago and you didn’t receive a conclusive result – or any result at all – think about getting tested again. Genetic tests have improved, research is advancing, and a person may learn more from a newer test, especially with the identification of new genes.

Knowledge is power, and the more patients and the medical community know about specific gene mutations, the faster clinical trials may progress.

Because of this, everyone with an IRD should declare “Eye Want 2 Know” and pursue genetic testing. Identifying and understanding the changes in your genes (mutations) that are responsible for vision loss is the first step in opening up new possibilities for yourself and your family. These benefits include:

  • Providing you and your family with more information to help you better manage your IRD

  • Determining with your doctor the best management plan for your IRD

  • Connecting with others in the community or joining IRD-specific advocacy groups

  • Focusing your search for gene therapy clinical trials or natural history studies – now, or in the future

Declare “Eye Want 2 Know” today and get started by connecting with your health care professional or an organization that can help facilitate genetic testing.

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Complex science. straightforward process.

The science behind genetic testing may be deeply complicated, but the testing procedure itself can be relatively simple.

Get an
exam.

An exam with a retinal or IRD specialist provides you with important baseline information about your disease. It could also generate a clinical diagnosis, if you don’t have one already, which may help narrow the search for your mutated gene.

Meet with a
genetic counselor.

Even if you’ve met with a genetic counselor before, you may want to do so again because science is always changing. A genetic counselor can help you understand the importance of identifying the genetic cause of your disease.

Provide
a sample.

Once your doctor orders the test, he or she will collect a saliva or blood sample and send it off to the genetic testing lab. To provide a blood sample, expect the same kind of simple blood draw that is done for any other kind of common blood test.

Discuss
the results.

It can take several months to receive the results from your genetic test. Discussing the results with a genetic counselor or a health care professional will provide you the insight needed to determine your next steps.

Genetic Testing for Retinal Diseases is a helpful reference guide developed in partnership with retinal disease advocates with more detailed information about genetic testing and to answer frequently asked questions about genetic testing.

From the Experts: A Professional’s Perspective
Photo of Dr. Dawn DeCarlo

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.

Learn more about IRDs, the IRD community and advances in science for IRDs at www.aSharedVision.com.

This is only general information about genetic testing. Each person’s situation and experience will vary. Always consult your health care professional when making decisions about eye health or genetic testing.