Avagen genetic eye test

Avagen Letter To Patients

August 11, 2021

As a fellowship-trained cornea specialist, my focus over the last 21 years has been on keratoconus.  I have always believed in providing state-of-the-art care for all cornea patients.  I was the first ophthalmologist in Tampa to offer corneal cross-linking for keratoconus when it was first FDA approved in the spring of 2016.  Since then, I have successfully performed over 400 cases and been able to halt the progression in the majority of patients. Based on long term studies, those patients will likely never need a cornea transplant. 

I am now very excited to be the first ophthalmologist in the Tampa Bay Area to offer the AvaGen genetic eye test for keratoconus.  AvaGen will provide a new level of targeted and personalized care for patients at risk for keratoconus.  Keratoconus is an inherited condition with an autosomal dominant inheritance pattern, but with incomplete penetrance.  Autosomal dominant inheritance means that approximately half of the children of a person with keratoconus will inherit the gene. Of those who carry the gene, a certain percent will develop the disorder.  About 20% of patients in one study reported a close family member with keratoconus.  Other studies claimed a positive family history for keratoconus ranging from 3% to as high as 28%.  Of the 20% in the study who said they had a close family member with keratoconus, 53% had one other family member and 46% reported two or more family members with keratoconus.  

This new genetic testing is recommended for all family members of affected keratoconus patients.  It is a simple in-office mouth swab which provides results in one to two weeks.  It gives a keratoconus risk assessment and score with categories of no risk, low, medium or high risk for keratoconus.  Genetic counseling is available for those at risk or with positive test results. Early diagnosis will allow for earlier intervention and prevention of visual loss from this disease.   I encourage all family members of a person diagnosed with keratoconus to call your local cornea specialist and arrange for a screening exam with genetic testing.


Craig E. Berger, M.D.

Craig Berger, MD