Identification and risk-factor analysis for individuals at high risk for keratoconus via machine learning and...

To evaluate keratoconus (KC) risk factors and to develop a machine-learning (ML) model for KC and myopia classification.

In this retrospective single-center cross-sectional study, demographic and lifestyle data from patients with KC and individuals from a preoperative refractive surgery clinic were collected from January 20, 2024, to December 1, 2024. Univariable and multivariable regression analyses were used to identify key risk factors. Additionally, random forest (RF)-recursive feature elimination (RFE), extreme gradient boosting (XGBoost)-RFE, and univariable logistic regression were applied to select factors for ML models. Seven ML models were developed for a lifestyle-based classification system, with the performance being validated through discrimination and calibration, and interpretability being improved using SHapley Additive exPlanations (SHAP).

Analysis of 711 patients (mean [standard deviation] age, 26.6 [7.1] years; 439 males [61.7%]) revealed 275 with KC. Multivariable regression analysis identified seven risk factors for KC, including male sex, higher body-mass index (BMI), lower education level, more distant childhood residence, allergic conjunctivitis, and increased eye-rubbing intensity and frequency. After feature selection of 24 variables, the neural-network model demonstrated the highest performance (area under the receiver operating characteristic curve [AUROC] = 0.79), followed by RF (AUROC = 0.77) and XGBoost (AUROC = 0.76). SHAP analysis consistently highlighted eye-rubbing intensity, sex, BMI, and childhood residence among the top 10 factors across the top three models, which were also confirmed by univariable logistic regression.

ML models can distinguish high-risk KC groups based on clinical risk factors, facilitating risk stratification and early lifestyle interventions.