Ocular findings of a patient with fabry disease


Retina-Vitreus, vol.30, no.1, pp.96-98, 2021 (Refereed Journals of Other Institutions) identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.37845/ret.vit.2021.30.18
  • Title of Journal : Retina-Vitreus
  • Page Numbers: pp.96-98
  • Keywords: Cornea verticillata, Fabry disease, Globotriaosylceramide, Glycosphingolipid, Vascular tortuosity


© 2021 Gazi Eye Foundation. All rights reserved.The aim of this report is to describe the ophthalmic fi ndings of a 27-year-old patient with Fabry disease. Best corrected visual acuity was 20/20 and intraocular pressure was 19 mmHg in both eyes. There was an infi ltrate on cornea bilaterally (cornea verticillata), increased tortuosity in conjunctival vessels, a hemangioma on the lower lid of the right eye. The temporal paleness of both optic nerves was noticed with slit lamp biomicroscope and colored fundus photography. Also, there was mild venous tortuosity in retinal vessels. Visual fi eld test, tear function tests, SdOCT fi ndings were all normal in both eyes. In Fabry disease, clinical manifestations begin in childhood, and it affects multiple organ systems which can lead to an early death. Ocular fi ndings are an early onset of the disease, so clinical examination of these fi ndings are important to suspect and request consultations from other clinical disciplines to establish a defi nitive diagnosis earlier.