Case Report

The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease

10.4274/tjo.41.57966

  • Cem Özgönül
  • Osman Melih Ceylan
  • Volkan Hürmeriç
  • Fazıl Cüneyt Erdurman
  • Üzeyir Erdem

Received Date: 24.02.2011 Accepted Date: 08.06.2011 Turk J Ophthalmol 2011;41(6):414-416

Fabry’s disease is an X-linked, inherited disorder caused by a deficiency of the enzyme alfa-galactosidase A and characterized by progressive accumulation of glycosphingolipids within several tissues and organs, including the eye. Ocular findings of Fabry’s disease are cornea verticillata, conjunctival vascular changes, retinal vessel tortuosity and cataract. We report the clinical and confocal microscopic findings of cornea verticillata observed in a patient who was diagnosed as Fabry’s disease. (Turk J Ophthalmol 2011; 41: 414-6)

Keywords: Cornea verticillata, Fabry’s disease, confocal microscopy

Full Text (Turkish)