Genetic Test to Quantify Keratoconus Risk & Presence of Corneal Dystrophies Launches

June 9, 2021

Avellino Lab USA, Inc., announced full nationwide availability in the U.S. of AvaGen, The Genetic Eye Test, as “the first genetic test that helps determine a patient’s risk of keratoconus and the presence of other corneal dystrophies.” The company says the test allows for more confident management and treatment for patients with these conditions in order to protect and preserve patient vision.

The test is designed to provide keratoconus patients with an earlier benefit from FDA-approved cross-linking treatment, which can halt disease progression and preserve vision. The AvaGen results can also influence an eyecare professional’s choice of refractive surgery options for patients.

The AvaGen genetic test examines 75 keratoconus-related genes and more than 2,000 variants of those genes to develop an actionable keratoconus genetic risk score. As certain ethnicities have a higher prevalence of this eye condition,1 the AvaGen test also factors this information into its results. For corneal dystrophies, AvaGen determines the presence of any of the 70 TGFBI gene variants and provides a conclusive diagnosis of corneal dystrophy sub-types, such as Epithelial Basement Membrane, Granular and Lattice disease distinctions, Reis-Bucklers, Schnyder and Theil-Behnke.

“Assessing keratoconus is multi-factorial. Until now, genetic data has been missing from the equation. I order AvaGen when I have any red flag concerns in my refractive surgical evaluations, such as high astigmatism or steep corneal curvature, against-the-rule or irregular astigmatism in younger patients, a thin cornea, or in family members of a known keratoconus patient. AvaGen helps me know earlier about a patient’s genetic predisposition and allows me to make confident treatment and management decisions,” says Elizabeth Yeu, MD, of Virginia Eye Consultants, an advisor to Avellino.

Keratoconus is a progressive vision disorder affecting approximately 885,000 Americans2 (one in 375) that is often underdiagnosed or misdiagnosed in its earlier stages, when it can be better managed and treated to protect and preserve vision. Today’s corneal diagnostic imaging tools often do not diagnose the disease early or misdiagnose keratoconus as astigmatism or myopia, and most optometrists do not have access to these imaging tools. Because of this, patients are typically managed with a “wait-and-see approach,” which often results in a diagnosis only after vision has been impacted.

Corneal dystrophies are a rarer group of genetic diseases, which can cause not only vision loss, but pain and discomfort for the nearly 280,000 patients in the US3 with some type of corneal dystrophy. Other diagnostic tools are often unable to provide a definitive diagnosis of the disease.

“We are pleased to make an impact on patients’ lives by uncovering the genetic risk of sight-threatening diseases and enabling doctors to deliver a higher level of personalized, targeted eyecare,” says Avellino Chief Scientific Officer Nazneen Aziz, Ph.D. “AvaGen empowers eyecare professionals with genetic data for everyday use in their medical practice so they can detect earlier the risk of developing keratoconus versus other, more traditional methods and take actionable decisions on the best course of treatment to protect and preserve vision.”

 Avellino CEO and President Jim Mazzo notes, “It is exciting to be part of transforming eyecare with the national introduction of the first comprehensive genetic test for patients with these challenging conditions. I congratulate our Avellino team on accomplishing this important commercial milestone for the company, and for taking a giant step on our path to developing a host of genomic tests for personalized disease management.”

He continues, “While we made AvaGen available in late 2019, we quickly pivoted our resources to do our part to address the COVID-19 pandemic over the last year with the development of our widely-used SARS-CoV-2/COVID-19 test, which received Emergency Use Authorization (EUA) from the FDA. Thanks to widespread testing and adoption of the COVID-19 vaccines, we are now able to offer AvaGen nationally.”

AvaGen is designed to be easy to use, requiring only a simple cheek swab that is sent to Avellino’s high complexity CLIA-certified lab for analysis. An eyecare professional receives results in days in an intuitive and actionable report via a HIPAA-secured patient portal. Genetic counsel is provided alongside test results to ensure eyecare professionals and their patients clearly understand the results and their implications for patient management.

To learn more about Avellino, visit

1. Hassan MD, Heydarian, Samira PhD, Hooshmand, Elham MSc, Saatchi, Mohammad PhD, Yekta, Abbasali PhD, … Khabazkhoob, Mehdi PhD. (Feb. 2000). The Prevalence and Risk Factors for Keratoconus: A Systematic Review and Meta-Analysis. Cornea, The Journal of Cornea and External Disease. Retrieved from

2. Godefrooij DA, De Wit GA, Uiterwaal CS, Imhof SM, Wisse RPL. Age-specific incidence and prevalence of keratoconus: a

nationwide registration study. American Journal of Ophthalmology. 2017;175:169-172.

3. David C. Musch, Leslie M. Niziol, Joshua D. Stein, Roheena M. Kamyar, Alan Sugar. Prevalence of Corneal Dystrophies in the United States: Estimates from Claims Data. (Aug. 2011). Retrieved from

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