COMPARING THE ABILITY OF GENETIC TESTING TO PROVIDE A DEFINITIVE DIAGNOSIS IN PATIENTS WITH PERIPHERAL AND MACULAR...

We performed a retrospective cross-sectional study to determine whether there is a significant difference in the percentage of patients with diagnosed inherited macular or peripheral disease who receive more definitive genetic testing results.

Three hundred and thirty-eight patients who presented to the Vanderbilt Eye Institute between 2020 and 2024 and received genetic testing were sorted based on clinically diagnosed macular or peripheral disease. An ordered logistic regression model was used to evaluate for a significant difference in genetic testing outcomes.

Two hundred and twelve patients had clinically diagnosed inherited peripheral disease and 126 had clinically diagnosed inherited macular disease. Patients with macular disease were less likely to receive an overall more definitive genetic testing result (odds ratio = 0.42, 95% confidence interval, 0.25-0.68, P = 5.1 × 10 -4 ) or to receive a Positive, Likely Positive, or Potentially Positive genetic testing result (odds ratio = 0.42, 95% confidence interval, 0.26-0.66, P = 2.2 × 10 -4 ). Macular patients were more likely to receive inconclusive results (odds ratio = 2.47, 95% confidence interval, 1.51-4.08, P = 1.2 × 10 -3 ).

Our data indicate that patients with diagnosed macular inherited retinal disease are significantly less likely to receive a definitive genetic testing result, suggesting the need for improvement in identifying genetic variants that contribute to inherited macular disease.