Early diagnosis and prompt treatment are absolutely necessary for the best outcomes in many rare disorders. Keratoconus, a rare disease that impacts the cornea, is no exception. It is best for patients if it is caught before any vision has been lost. Luckily, Avellino Lab USA has recently launched a genetic test that allows patients to determine their risk of keratoconus and other corneal dystrophies. This test is now available across the country.

About Keratoconus

Keratoconus occurs when the cornea becomes progressively thinner, typically leading to a bulge in the center of the eyes. Medical professionals are unsure as to why exactly the cornea does this, but they expect that it is a mix of genetic and environmental factors. They have identified a number of risk factors as well, such as Down syndrome, Leber congenital amaurosis, Marfan syndrome, prolonged exposure to sunlight, exposure to intense sunlight, and frequent/aggressive rubbing of the eyes. Regardless of the cause, this disease causes blurred vision, cloudy vision, sudden worsening of vision, and increased sensitivity to light. To treat this condition, doctors will utilize corrective lenses or glasses, surgery, transplants, and implants.

Genetic Testing for Keratoconus

Called AvaGen, The Genetic Eye Test, this test gives patients a genetic risk score by scanning 75 genes related to keratoconus and an additional 2,000 variants. In terms of corneal dystrophies, the test examines 70 TGFBI gene variants and provides a name for the specific sub-type one has. Medical professionals hope that this test will allow for early intervention with cross-linking treatment, which slows disease progression and vision loss.

The test is simple, asking for only a single cheek swab as evidence. The sample is then analyzed at Avellino’s high complexity CLIA-certified lab. Avellino sends the results within a few days to an eye care professional, who receives the report through a HIPAA-secured patient portal. These healthcare professionals go on to explain the results to their patients, ensuring that they know what they have been diagnosed with and the best course of action.

Looking Forward

Avellino is very excited to offer this genetic test to patients, as it allows for faster diagnosis and earlier treatment. In addition, it makes doctors more confident in their treatment decisions by providing more information. Now there can be more personalized and targeted care for keratoconus and corneal dystrophy patients.

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