This page gives information about genetic testing and how it can help with understanding inherited retinal diseases (IRDs) and research into new treatments.

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What is a genetic test?

What is a genetic test?

Genetic testing is a type of medical test that identifies what mutation causes a person’s disease or whether someone carries a mutation that can cause a disease. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disease. 

Genetic testing is voluntary.

Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

Testing for retinal diseases

Genetic testing for inherited retinal diseases 

Tests are available for a wide range of inherited retinal diseases and helps with attaining an accurate diagnosis. A patient and family with a genetic diagnosis are in a better position to understand which emerging treatment approaches and clinical trials are most appropriate for them.

Why get a genetic test?

Why get a genetic test?

Genetic testing can reveal what specific mutations underly a genetic disease and confirm a clinical diagnosis or clarify a diagnosis that was previously unclear. A confirmed genetic diagnosis:

  • May help understand prognosis and guide medical management
  • May provide access to an existing therapy or an ongoing clinical trial
  • May help family members understand their own risks and assist with family planning
  • May provide access to appropriate support services such as patient advocacy organizations
  • Will increase our knowledge of what causes IRDs, which is key data in the understanding of the IRD and the development of therapeutics

The results of a genetic test are incredibly important and helpful for health care providers as they can accurately advise patients about how their condition is likely to progress and provide more clarity about how these rare eye diseases are inherited.

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How does it work?

How does genetic testing work?

A genetic test takes the form of a saliva, mouth swab or blood sample that is analyzed in a laboratory by scientists that can identify which gene mutation is causing a particular condition in an individual or family. Once the test is done, the results will be made available to your doctor.

How does it help research?

How does knowing my genetic information help research?

Genetic testing also plays a big role in assisting the researchers to better understand disease pathways in the hope that it will help progress clinical research and develop appropriate treatment for inherited retinal diseases. 

But most importantly, genetic testing allows patients and their families to better understand their condition, empowering them with the knowledge to make informed decisions regarding their healthcare and life choices.

What should I do?

What should I do to get genetic testing?

A genetic test can only be ordered by a doctor or other healthcare provider so talk to your (eye) doctor about it. He or she can then order a test for you. You collect the sample at home or at the hospital. The sample will be sent to a laboratory and the results are made available to your doctor. A genetic counselor can help explain what the outcome of the test means and what the next steps may be.

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Free genetic testing in the US

My Retina Tracker® - Free genetic testing program in the US

Because we know many barriers to genetic testing exist for people with inherited retinal diseases in the United States, we are supporting the Foundation Fighting Blindness’s My Retina Tracker program. This program offers open access, no-cost genetic testing for individuals living in the United States, with a clinical diagnosis of an inherited retinal disease.

Learn about My Retina Tracker

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Information for the UK

Unlock Genetics - information for the UK

The charity Retina UK has launched a website with information about genetic testing for people living with inherited sight loss in the UK.

Visit Unlock Genetics

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