Daughter hugging mom while looking away

Why should I get genetic testing?

More answers, more control of your future

Genetic testing may give you valuable ANSWERS that empower you
to make informed decisions about your future.

  • A ffirm the genetic cause of your vision loss or impairment
  • N avigate new insights into how your vision may change over time
  • S ee if you are eligible for clinical trials and potential treatments
  • W eigh the potential risks of other family members
  • E xplore support groups and low-vision resources
  • R eveal potential health impacts in other areas of your body
  • S tay engaged and informed about the future

Over 270 genes

related to inherited retinal diseases have been identified. The genetic cause of your inherited retinal disease could be within one of them.

of people with an inherited retinal disease, genetic testing may help identify its genetic cause

Early genetic testing matters. Here’s why:

  • The earlier you test, the earlier you may receive an accurate diagnosis that can put you in more control of your health
  • Your eye specialist can help you determine if you are eligible for clinical trials, or if there are any appropriate treatments, depending on your test results
  • With a better picture of your genetic cause, at-risk family members may now also be tested
  • If your result reveals impact to other areas of your body, your eye specialist may refer you to another specialist for proper care
  • Some therapies may require living cells to be eligible for treatment. For example, inherited retinal diseases may be progressive, so earlier diagnosis may provide better chances for living cells to be available

Prepare to speak with your eye specialist about testing or retesting

“Inconclusive” or “Negative” may not be the final answer

Person using equipment in a laboratory with other lab technicians
  • Your result can inform your eye specialist about a possible different diagnosis
  • Your eye specialist may recommend retesting in a few years. Remember, science is constantly advancing and there are more genes yet to be discovered. Just in the past 10 years, more than 100 new genes related to inherited retinal diseases have been identified
  • With the evolution of genetic testing technology, creation of more labs, and improved interpretation of results, the genetic cause of vision loss or impairment can now be determined in even more people