Nearly
90%
*Data derived from questionnaires from 200 patients with an IRD in 2013.
Make sense of what’s happening to your vision now and how it may change over time
Can help relieve the anxiety of “not knowing” what’s causing your vision loss or impairment
Provides valuable information you can use for proactive family planning
Helps identify other family members who may also benefit from genetic testing
Can help determine your eligibility for clinical trials and future treatments
Provides direction for which support groups and resources are right for you
Genetic testing put us on the map. It validated what we were experiencing and gave it a name. It was like we’d been discovered.
– Lisa, living with an IRD
In recent years, genetic testing has become increasingly affordable and may be available at low cost or no cost through programs like this one from Foundation Fighting Blindness.
Genetic testing is a simple blood, cheek, or saliva sample.
Not all genetic tests can detect IRDs. Your physician or genetics experts will be able to determine which genetic test is most appropriate.
Science is advancing, and new genetic variants are continually being discovered. If you have been tested before, it may be worth retesting. Your eye specialist should work with labs to find the right genetic test that can identify the correct gene variant.
Genetic testing is important for diagnosing potential IRDs and identifying inheritance patterns. It helps guide care, assists in future family and life planning, and uncovers possibilities for ongoing clinical trials and potential emerging treatments. It can also help provide insight into future diagnosis.
There is a growing need to extend genetic testing beyond immediate family members, as extended family members may also be impacted. This reinforces the need for more comprehensive genetic testing strategies.
– Lisa, living with an IRD
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Schedule an exam with an ophthalmologist, retina specialist, or inherited retinal disease specialist. An eye exam and family history may reveal signs of your disease.
If you suspect you may have an inherited retinal disease, or if you have a family member with one, ask your eye specialist about access to genetic testing and a referral to a genetic counselor.
Use this tool to find an eye specialist near you.
If you or a family member suspects you have an IRD, ask your eye specialist if genetic testing or retesting is right for you.
Making sure you have access to timely genetic counseling before and after the test is important.
Experts in genetic testing and counseling can help provide valuable guidance and support throughout your testing journey. Watch this video to learn from a genetic counselor.