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Is there a genetic test for keratoconus?

Many patients ask us about some of the risk factors for keratoconus.

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Recently, a new genetic test for keratoconus launched, and we are incredibly excited to offer this service to patients! AvaGen is available to patients wanting to understand their genetic risk factor for keratoconus and other corneal dystrophies.

The process is very simple, easy, and pain free.

First, you will arrive to the office and answer a few questions about your medical history and family history. Then, you will rinse your mouth with warm water. This will remove any food or other particles from your mouth that may contaminate the test.

Next, the doctor or technician will gently swab the inside of your cheek with a cotton swab. Then this sample is sent to the laboratory for testing.

The laboratory will analyze your genetic sample and generate a report that allows us to view your genetic risk for keratoconus. This information can be very helpful to your doctor so they can manage your specific care at a customized level.

For instance, you maybe have been flagged as a keratoconus suspect in the past, but want to find out what your genetic risk for keratoconus is. If your results come back as “very high genetic risk,” your eye doctor may want to see you more frequently or perform additional tests during your visits.

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Think of it like this: If you have a family history of breast cancer, and your genetic risk factor is also deemed very high, your doctor may want to see you more often to ensure that you do not develop breast cancer. Or if you do develop breast cancer, you can be treated quickly, which is usually the key in stopping or slowing the disease in an early state.

Another example would be if you have keratoconus and you want to find out if your child is at risk. If your child ends up with a very low genetic risk for keratoconus, your eye doctor may feel comfortable seeing them on a less frequent schedule.

This information is incredibly helpful and useful for your eye doctor! If you have keratoconus and want to find out if your family members are at risk, please contact us today to find out more about this test!

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