Aim: Description of corneal findings in Fabry disease-related keratopathy using in vivo confocal microscopy.
Observation: A 65-year-old man presenting with a cerebral ischemic lesion was referred to our clinic for ophthalmologic evaluation with a suspicion of inaugural Fabry disease. Slit lamp biomicroscopy showed whorl-like lines in the inferior cornea of both eyes. In vivo confocal microscopy revealed the presence of numerous hyperreflective intracellular inclusions in the corneal epithelium and stroma.
Discussion: The whorl-like lines are related to deposition and accumulation of glycosphingolipids in the epithelial and stromal layers of the cornea. This case is also interesting for the late manifestation of Fabry disease, showing the variability in the expression of this condition.
Conclusion: In vivo confocal microscopy may be an important tool in the follow-up of Fabry disease-related keratopathy, enabling us to monitor the effect of enzyme replacement therapy.
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