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Uncovering New Insights With Genetic Testing

Genetic testing may give you and your patients more ANSWERS:

  • Affirm the genetic cause of their vision loss or impairment
  • Navigate new insights into how their vision may change over time1
  • See if they are eligible for clinical trials and emerging treatments
  • Weigh the potential risks of other family members2
  • Educate about support groups and low-vision resources
  • Reveal potential health impacts in other areas of their body
  • Strengthen your doctor-patient relationship

The importance of retesting

To date, more than 270 inherited retinal disease–related genes have already been identified.3 This gene identification, combined with advances in genetic testing, has increased the diagnostic yield for patients with inherited retinal diseases.2,4

Science is always advancing. As genetic testing options continue to advance, patients who do not know their underlying genetic diagnosis may benefit from retesting. While a gene variant may have been classified to be “uncertain” a few years ago, that same variant may be reclassified as either benign or pathogenic today.2,5

Another reason to retest is that effective gene therapy relies on the presence of viable target cells. Early identification of inherited retinal diseases in your patients allows them to be potentially eligible for available therapies and clinical trials.6

Discover how one patient with prior inconclusive results finds new answers after retesting.

Read case study

Explore how one patient finds new answers after retesting.

Read case study

of people with inherited retinal diseases view genetic testing as a positive step toward eye health1

At a large healthcare system in the US, only 1.5% of people with a suspected inherited retinal disease in the last 10 years received genetic testing7*

*From December 2008 to December 2018.

But did you know?

Genetic testing can help identify the genetic variant in up to 80% of people with an inherited retinal disease.8

What does this mean for your practice? You could uncover the gene variant in up to 8 out of every 10 of your patients with an inherited retinal disease.

Genetic testing can reveal more than just eye health

Person in full protective gear inside a laboratory

While your patient may clinically present with only ocular symptoms, a genetic test can reveal other serious conditions. Testing may uncover vision issues, as well as systemic issues:

  • In most cases, an inherited retinal disease is limited to the eye, but over 80 forms of syndromic inherited retinal diseases have been found9
  • Knowing what other conditions your patients are at risk for can help you refer them to the right specialists

Take action to confirm your patients’ inherited retinal diseases. Engage or reengage appropriate patients with a genetic test.