Clinical Ocular Diagnostic Model of Marfan Syndrome in Patients With Congenital Ectopia Lentis by Pentacam AXL System.

Purpose: To construct an ocular diagnostic model of Marfan syndrome (MFS) distinguishing MFS from congenital ectopia lentis by the Pentacam AXL system. Methods: Multivariable logistic regression was performed for the MFS ocular model. Furthermore, discrimination and calibration were validated externally. Data for 96 patients with ectopia lentis were assigned to the training cohort. Eighty patients with ectopia lentis were assigned to the test cohort. Diagnosis of MFS was based on the Ghent-2 criteria and diagnosis of congenital ectopia lentis in the control did not comply with the Ghent-2 criteria. Results: The clinical model was based on the axial length/total corneal refractive power ratio. In the training cohort, the area under the receiver operating characteristic curve was 0.816 (95% confidence interval, 0.754-0.878) in the final model, which showed better performance than the previous minor criteria for diagnosis MFS of myopia of more than 3 diopters. In the test cohort, the area under the receiver operating characteristic curve was 0.818 (95% confidence interval, 0.718-0.918). In decision curve analysis, the net benefit of the model was better between threshold probabilities of 40% to 80%. Conclusions: We demonstrated the value of the axial length/total corneal refractive power ratio as a potential diagnostic marker of MFS and clinical performance of diagnostic models, which may assist ophthalmologists in rapid identification of the patients at high risk of MFS. Translational Relevance: This clinical ocular diagnostic model can be easily applied using the Pentacam AXL system. This model aids in the early differential diagnosis of MFS from other forms of congenital ectopia lentis, which may decrease the risk of developing severe ocular symptoms.