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AvaGen Genetic Testing versus Ocular Screening Assessments Including the Keratoconus Severity Score (KSS) and
Majid Moshirfar1,2,3, Shreya Pandya4, Stephanie Zhang5
1Hoopes Vision Research Center, Hoopes Vision, Draper, UT, USA.
Purpose:
To determine whether the AvaGen (AG) Genetic Eye Test provided additional information for screening for the presence of keratoconus (KC) and assessing KC risk in refractive surgery candidates, as compared to the Keratoconus Severity Score (KSS) and Randleman Ectasia Risk Score System (ERSS).
Methods:
This retrospective study analyzed patients seeking refractive surgery at an eye clinic in the United States between January 2022 and July 2023. The inclusion criteria encompassed those with a family history of KC, positive KC indices, or both. Corneal evaluations and demographic information were recorded and analyzed. KSS and ERSS criteria were utilized to evaluate postoperative KC and ectasia risk, respectively. Patients were categorized on how the AG genetic test compared to KSS and ERSS criteria. Clinicians assessed topographic indices, criteria scoring, and AG testing to deliver a definitive surgical recommendation.
Results:
Among the 19 patients evaluated for ectasia risk, AG testing showed lower KC risk than ocular screening in three patients (15.8%), equal risk in three patients (15.8%), and higher risk in 13 patients (68.4%). The mean AG scores were 45.7 ± 7.0, 49.0 ± 3.46, and 61 ± 13.0 for these respective categories. The most frequently identified KC risk genes were ADAMTS18, COL2A1, and COL4A1. The AG test modified the physician's recommendation for refractive surgery in nine cases (47.4%).
Conclusion:
Despite the promising application of AG testing for assessing KC risk, further research and development are needed to enhance its applicability for screening refractive surgery candidates, in addition to standard ocular screening approaches.
