Differential diagnosis of Marfan syndrome based on ocular biologic parameters

The present study aimed to investigate the ocular characteristics of Chinese patients with Marfan syndrome (MFS) and to evaluate the sensitivity and specificity of ocular parameters in distinguishing MFS from ectopia lentis.

A total of 103 patients (103 eyes) with ectopia lentis from 13 provinces and 47 cities were recruited from Zhongshan Ophthalmic Center, Sun Yat-sen University, from June 2017 to June 2019. Ghent-2 criteria were used, as they are the gold standard diagnostic criteria for MFS. Ocular parameters, such as flat keratometry (Kf), steep keratometry (Ks), mean keratometry (Km), corneal astigmatism (AST), axial length (AL), white-to-white corneal diameter (WTW), central corneal thickness (CCT), and axial length/curvature radius (AL/CR), were recorded. Diagnostic analyses based on various combinations of parameters to differentiate MFS from ectopia lentis were made using receiver-operating characteristic (ROC) curves.

The mean age of the 103 included patients was 10.25±9.67 (range: 3-48) years, and 66.02% were male. Km combined with CCT was found to have good sensitivity and specificity in the differential diagnosis of MFS from ectopia lentis; Km of 41.36 D and CCT of 537.32 mm were found to be the optimal cut-off points, representing a sensitivity of 89.8% and specificity of 68.7%.

Special characteristics of ocular parameters were detected in MFS. Our findings indicate that ocular biologic parameters are valuable for the differential diagnosis of MFS from ectopia lentis. Km, combined with CCT, could be used as a screening tool for MFS.