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For healthcare providers

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For people living with an IRD

EYES ON GENETIC TESTING: UNCOVERING NEW ANSWERS

Black family after successful genetic testing to identify symptoms

Nearly

90%

of people with IRDs view genetic testing as a positive step forward*

*Data derived from questionnaires from 200 patients with an IRD in 2013.

Genetic testing uncovers key answers

Detects the cause

Make sense of what’s happening to your vision now and how it may change over time

Relieves anxiety

Can help relieve the anxiety of “not knowing” what’s causing your vision loss or impairment

Supports planning

Provides valuable information you can use for proactive family planning

Identifies risk

Helps identify other family members who may also benefit from genetic testing

Connects to trials

Can help determine your eligibility for clinical trials and future treatments

Facilitates support

Provides direction for which support groups and resources are right for you

Lisa, woman with an inherited retinal disease (IRD), smiling

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

Facts about genetic testing

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Increasing affordability

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.

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Testing made simple

Genetic testing is a simple blood, cheek, or saliva sample.

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Picking the right test

Not all genetic tests can detect IRDs. Your physician or genetics experts will be able to determine which genetic test is most appropriate.

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More genes being discovered

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.

Extend genetic testing beyond immediate family

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.

Genetic testing is critical. Without it, we would have no idea what our kids have. We wouldn’t know the next steps we needed to take. We wouldn’t know how to plan for the future.”

– Lisa, living with an IRD

4 simple steps for genetic testing

Click the numbers to navigate through the steps. Use the "Go to" or "Back" buttons to skip ahead or go back.

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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.

Ask your eye specialist about genetic testing

If you or a family member suspects you have an IRD, ask your eye specialist if genetic testing or retesting is right for you.

“What do my results mean?”

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.

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Positive

We have an answer

  • The genetic cause of your vision loss or impairment has been identified
  • Your genetic counselor will discuss your diagnosis with you
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Negative

We don’t have an answer

  • No gene variants found for any of the tested genes
  • Inherited retinal disease diagnosis NOT genetically confirmed
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Inconclusive

We may or may not have an answer

  • One or more gene variants were identified, but their role in your vision loss or impairment is unclear
  • We don’t have enough information and may consider retesting in the future
  • Inherited retinal disease diagnosis NOT confirmed