Genetic Testing for Keratoconus

AvaGen™ is the genetic eye test that provides answers on your risk for keratoconus and other corneal diseases—helping you and your doctor make confident eye care decisions now.

The AvaGen™ test is unique because it’s:

Personalized: AvaGen™ uses DNA to accurately assess your individual genetic risk or likelihood of keratoconus, and determine if you have a corneal dystrophy.
Preemptive: As a genetic test, AvaGen™ relies on your DNA and not physical changes in your eye, so you may be tested before symptoms of keratoconus or corneal dystrophies occur, allowing for earlier detection and proactive management and treatment.
Painless: A DNA sample is simply taken from the inside of your cheek with a cotton swab.


Genetic eye conditions including keratoconus and corneal dystrophies are progressive, meaning they will get worse over time if left untreated. In the past, keratoconus and corneal dystrophy eye diseases could only be diagnosed by a doctor physically examining the shape and appearance of your cornea, the clear rounded front part of eye. This meant eye diseases often went undiagnosed and continued to gradually worsen and permanently affect vision over time.

Now, with AvaGen™ your doctor will have a better understanding of the health of your eye, and can take immediate actions that may help slow or stop the progression of the disease, to help protect and preserve your vision into the future. The AvaGen™ test may also help your doctor evaluate whether or not you can undergo corneal procedures, including vision-correcting procedures like LASIK.

With AvaGen™, you will have the peace of mind of knowing you’re doing the utmost to protect your vision.


The AvaGen™ test is quick, easy, and non-invasive, only requiring a cheek swab to gather a sample of your DNA. The test is performed in the office, and the sample is sent to a special lab for analysis. Once your sample has been processed by the lab, your doctor will inform you of the results, answer any questions you may have, and discuss potential next steps with you.

Comprehensive genetic counseling sessions are available for patients who have undergone testing with the AvaGen™ genetic eye test. Genetic counselors are available to help you understand your genetic eye test results and implications for your family members.


There are a number of reasons, including:

  • You have a family history of corneal spots, corneal dystrophy, vision changes, or a family member who had a corneal transplant for unknown reasons.
  • Your doctor sees irregular or suspicious signs your cornea, such as corneal thinning, or gray or white spots (protein deposits) on your corneas.
  • You have high or progressive nearsightedness or astigmatism.
  • You are considering refractive surgery such as LASIK, and want to know what to expect next.