Corneal neuro-immune crosstalk in Fabry disease: An in vivo confocal microscopic study

This study aims to assess the corneal nerve damage and corneal immune alteration by in vivo confocal microscopy (IVCM) in Fabry disease (FD) METHODS: Sixty-two eyes from 31 patients with FD were analysed and compared with fifty eyes from 25 healthy controls in this prospective, cross-sectional, controlled, single-center study. After evaluating corneal sensation by the Cochet-bonnet esthesiometer, the IVCM was performed to evaluate the sub-basal nerve plexus (CSNP) including density, number, tortuosity and reflectivity of corneal nerve, and the inflammatory cells including mature/immature Langerhans cells (LCs) and leukocytes. The differences between FD and healthy controls, different genders (heterozygous and hemizygous), phenotypes (classical, nonclassical) and Mainz severity score index (MSSI) scores were compared RESULTS: A significant reduction of corneal nerve density, number and reflectivity, as well as an increase of tortuosity occurred in the FD group compared with healthy controls (P < 0.001). The density of LCs was significantly increased in the FD group compared with the healthy controls in the central cornea (P = 0.016) and peripheral cornea (P < 0.001). The more severe corneal neuropathy and higher density of LCs were found in hemizygous males than heterozygous females (P < 0.05). As for the difference between distinct phenotypes and MSSI scores, we did not find significant difference in corneal nerve parameters and LCs density CONCLUSIONS: IVCM provides parameters that reliably indicate corneal nerve damage and inflammatory activation in patients with FD.