Yeungnam Univ J Med.  2018 Dec;35(2):232-235. 10.12701/yujm.2018.35.2.232.

Ocular manifestations in a patient with de novo Fabry disease

  • 1Department of Ophthalmology, Keimyung University School of Medicine, Daegu, Korea.
  • 2Department of Internal Medicine, Keimyung University School of Medicine, Daegu, Korea.


Fabry disease (FD) is an X-linked, recessively inherited, rare, progressive, disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. It is rare to find only one FD affected subject with a de novo mutation. Here we report a case of a 41-year-old Asian male diagnosed with de novo FD. Comprehensive ophthalmological evaluation was performed using slit lamp, color fundus photography, optical coherence tomography, fluorescein angiography, and indocyanine green angiography. On slit lamp examination, cornea verticillata and slightly tortuous, and aneurysmal dilatation of inferior bulbar conjunctival vessels were observed. Other imaging modalities showed unremarkable findings. Cornea verticillata and inferior bulbar conjunctival vascular abnormalities may be detected earlier than other ocular abnormalities in de novo FDs like hereditary FDs.


Cornea verticillata; De novo mutation; Fabry disease
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