Corneal and Conjunctival Manifetation in Fabry Dieae: In Vivo Confocal Microcopy tudy Original Reearch Article

Purpoe To decribe the microcopic corneal and conjunctival finding in patient with Fabry dieae (FD) related keratopathy by uing in vivo confocal microcopy. Deign Propective obervational cae erie. Method Twelve eye of ix patient affected by Fabry dieae, belonging to two different familie, underwent in vivo confocal microcopic examination. Corneal and conjunctival morphology were aeed by mean of a canning lit corneal confocal white-light microcopy and confocal laer-canning microcope. Reult Confocal microcopy examination evidenced two different type of corneal epithelial change. The three hemizygou patient preented bright hyper-reflective intracellular incluion located within the baal epithelial cell, while the three heterozygou patient howed fine diffuion of reflective ubtance at the level of uperficial, baal epithelial cell and baal membrane, in all eye. The complex baal-Bowman’ membrane appeared irregular, ditorted, and nonhomogeneou in all ubject. tromal increaed reflectivity attributable to haze and epithelial ingrowth with bright intracellular incluion wa noticed in one hemizygou patient. In all patient, conjunctival epithelial involvement repreented by bright roundih intracellular incluion wa evidenced, appearing more pronounced in taral than in bulbar conjunctiva. Concluion Although FD-related cornea verticillata attributable to glycophingolipid accumulation i conidered to be primarily a corneal dieae, in vivo confocal microcopy demontrated tructural alteration throughout the entire ocular urface epithelia. It i till unclear whether the different type of corneal epithelial leion oberved for hemizygou and heterozygou patient i related to different phyiopathological mechanim. Confocal microcopy may ait ophthalmologit in the diagnoi of FD-related ocular urface and corneal manifetation.