Now that collagen crosslinking has proved its mettle in slowing keratoconus progression, doctors need to identify candidates right away so that the option can be considered early. Those looking for help may wish to offer keratoconus suspects a genetic test that will assess their risk. AvaGen, by Avellino, examines 75 keratoconus-related genes, more than 2,000 gene variants and data on ethnic predispositions to the disease to come up with a keratoconus genetic risk score, a company press release explains. These results will allow you to offer more customized care to your patients based on their individual odds of developing keratoconus, the company suggests.

The test can also measure susceptibility to a variety of corneal dystrophies (e.g., epithelial basement membrane, granular, lattice, Reis-Bucklers, Schnyder, Theill-Behnke), allowing for more conclusive diagnoses and more effective treatment plans, Avellino says. The test results may also influence your decisions about a patient’s viability for refractive surgery given that some options are contraindicated in patients with certain corneal dystrophies, the company notes.

An in-office cheek swab yields a sample that the practice sends to Avellino’s lab for analysis; the company says results should arrive in a few days. To ensure that the doctor and patient both understand the results, the company also provides genetic counseling, the press release explains.

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