Adding Genetics to the Risk Factors Model Improved Accuracy for Detecting Visual Field Progression in Newly Diagnosed Exfoliation Glaucoma Patients

TL;DR

Including genetic factors improves the accuracy of predicting vision loss in newly diagnosed exfoliation glaucoma patients.

Contribution

This study demonstrates that adding genetic markers to clinical risk factors enhances prediction accuracy for disease progression.

Findings

Genetic SNPs and clinical factors like IOP and MD significantly predict visual field deterioration.

Including SNPs in models increases area under the curve (AUC) by 10–20%.

Interaction terms with SNPs show highly significant results in logistic regression analysis.

Abstract

Background: This study aims to determine whether including genetics as a risk factor for progression will improve the accuracy of the models used in newly diagnosed exfoliation glaucoma patients. Methods: This was a prospective cohort study. This study included only patients who were newly diagnosed with exfoliation glaucoma and received treatment upon inclusion. Blood samples were taken from all patients at inclusion to test for the single nucleotide polymorphisms (SNPs) LOXL-1 rs2165241 and rs1048661. Results: This study found that the frequency of SNPs, as well as intraocular pressure (IOP), mean deviation (MD), and visual field index (VFI) values at diagnosis, were significant predictors of visual field deterioration (p ≤ 0.001). This study showed that interaction terms, including SNPs, were highly significant (p ≤ 0.001). Furthermore, logistic regression analysis also showed highly significant results for interaction terms when SNPs were included (p ≤ 0.001). Finally, the area under the curve (AUC) analysis showed an increased value of around 10–20% when SNPs were included. Conclusions: Adding genetic factors to the well-known clinical risk factors can increase the accuracy of models for predicting visual field deterioration in exfoliation glaucoma patients. However, further studies are needed to investigate the role of other genes in this process.

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