Noninvasive Genetic Testing for Keratoconus Helps Identify Who is at Risk

A new genetic test for keratoconus as well as other types of corneal dystrophy was released late last year. The test was created by Avellino and can identify biomarkers of disease. It also looks for the mutations that cause granular corneal dystrophy and for other mutations of the TGFBI gene.

In this article, three doctors, Dr. Yeu, Dr. Trattler, and Dr. Jackson, share their thoughts on the keratoconus test and how it is used.

AvaGen Test

This test is a noninvasive cheek swab that tests for 75 different genes that are unique to kereatoconus patients.

Avellino created a scoring system to evaluate the test results. Genes more common to keratoconus were given a high score, genes less common were given a low score, and those moderately common were given a moderate score.

Patients receive their test results between 24 and 48 hours after getting the swab. Avellino is working on making this turnaround time even faster.

There are still some things we don’t know, but this test is nonetheless a good start. For instance, even if a test comes back showing an individual has a gene associated with keratoconus, that doesn’t mean that they necessarily will develop the disease. We also don’t yet know if any gene is linked to more rapid disease progression. The hope is, the more patients that are tested and evaluated, the more we will understand about the disease and its genetics.

Who Should be Tested?

Two of the doctors explained that they begin their testing process with patients who already have a keratoconus diagnosis. Why? Well, it’s not for them. It is for their family members. If the doctors can identify which markers have caused the disease in a patient, they can identify which of their family members may be at risk. These family members may receive a positive genetic test before they receive their official diagnosis. This is hugely advantageous.

Knowing an individual is at risk for the disease means that they can be monitored for any progression and they will likely receive their diagnosis much earlier than they would have otherwise.

Early diagnosis is essential, especially in this disease that progresses rapidly. Keratoconus undergoes most of its progression in patients between the ages of 13 and 30. Therefore, knowing someone is at risk as a child can be life changing.

Other individuals who may be good candidates for this test are those with progressive astigmatism, elevated mean corneal curvatures, or those who are considering corneal refractive surgery.

You can read more about this genetic test here.

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