Autophagy-lysosome pathway alteration in ocular surface manifestations in Fabry disease patients.
Marco MarencoMarco SegattoAlessandro LambiasePietro MangiantiniFrancesca GiovannettiRocco PlaterotiPublished in: Orphanet journal of rare diseases (2022)
This study shows that FD is associated with ocular surface alterations including corneal and conjunctival morphology, innervation and vascularization changes. Our data demonstrate an increased expression of LC3 protein in patients with FD, suggesting that alteration of the autophagy-lysosome pathway may play a role in the occurrence of ocular manifestations.
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