In vivo confocal microscopic study of cornea verticillata and limbus deposits in Fabry disease

Xuecong Zhou ¹ Yawen Zhao ² Yingsi Li ¹ Yujing Yuan ² Xiaoming Yan ¹ Wei Zhang ² Yuan Wu ^1*

• ¹ Department of Ophthalmology, First Hospital, Peking University, Beijing, Beijing Municipality, China
• ² Department of Neurology, First Hospital, Peking University, Beijing, Beijing Municipality, China

To investigate the characteristics of microstructure of cornea verticillata and limbus deposits with in vivo confocal microscopy (IVCM) in Fabry disease (FD).Methods: Sixty eyes of 30 patients with FD were studied and compared with thirty-six eyes of 18 normal controls in this prospective, cross-sectional, controlled, single-center study. Cornea verticillata (CV) was assessed using the slit-lamp microscopy firstly. And then IVCM was performed to evaluate deposits in corneal and limbal epithelium. The differences between genders (heterozygous and hemizygous) and phenotypes (classical, nonclassical) were compared.The detection rate of epithelial deposits through IVCM (52/60, 86.67%) was statistically higher than the biomicroscopic evaluation of CV through silt lamp (46/60, 76.67%) (P = 0.031). A higher prevalence of corneal epithelial deposits was observed in classical than nonclassical phenotype (P = 0.023). Surprisingly, the cardiac variants previously known to have no cornea verticillata, were found to have a high prevalence (85.71%) of corneal epithelial deposits under IVCM. The prevalence and severity of deposits in limbus especially epithelial rete pegs were higher in FD than controls (P < 0.001).Compared with slit-lamp microscopy, IVCM provides a more powerful tool for examining the epithelial deposits in FD. Patients with FD demonstrated a profound bilateral increase in the corneal epithelial deposits and limbal hyper-reflective cells as compared with controls, with a more prominent pathological changes observed in classical phenotype individuals. The high prevalence of epithelial deposits under IVCM in cardiac variant highlights the indispensable ability of IVCM as a powerful diagnostic tool.