{
  "abstract": "Introduction Fabry disease (FD), a rare X-linked lysosomal storage disorder characterized by α-galactosidase A deficiency, leads to the accumulation of toxic metabolites. Cornea verticillata, vessel tortuosity, and cataract are well-known ocular manifestations in this subset of patients. However, ocular manifestations on the FD ocular surface remain less explored.Material and Methods This study assesses 130 eyes (65 FD patients and 65 unaffected patients) to understand whether ocular surface and lacrimal tear film features may exhibit differences and eventually affect the ocular surface. Tear film features (Schirmer test I, NIBUT, tear meniscus), ocular surface damage indexes (NEI score, OSIE), and meibography were measured for each patient. Statistical analysis was performed to evaluate the differences between the Fabry group and the unaffected controls group. The correlation between the different Fabry phenotypes, galactosidase activity (GA), and ocular symptoms were also examined.Results Preliminary findings suggest an increased potential for ocular surface damage in FD, with an elevated rate of dry eye, meibomian dysfunction, and tear film alterations, independently of the various types of GA activities.Conclusion Due to the altered lipid metabolism in Fabry disease, lacrimal film lipid layer stability can be affected, thus causing ocular surface damage. However, these results warrant confirmation in larger, longitudinal studies. Understanding the impact of FD on the ocular surface is crucial for comprehensive patient care and may contribute to early intervention strategies.",
  "authors": [
    {
      "affiliations": [
        "Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples ‘Federico II’, Naples, Italy"
      ],
      "name": "Luca D’Andrea"
    },
    {
      "affiliations": [
        "Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples ‘Federico II’, Naples, Italy"
      ],
      "name": "Mario Troisi"
    },
    {
      "affiliations": [
        "Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples ‘Federico II’, Naples, Italy"
      ],
      "name": "Raffaele Piscopo"
    },
    {
      "affiliations": [
        "Department of Public Health, Nephrology Unit, University of Naples Federico II, Naples, Italy"
      ],
      "name": "Antonio Pisani"
    },
    {
      "affiliations": [
        "Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples ‘Federico II’, Naples, Italy"
      ],
      "name": "Ciro Costagliola"
    }
  ],
  "title": "P.1. Alterations of the ocular surface in fabry disease",
  "uid": "0782ba1c-a569-5eca-bdee-68744b10cb47"
}