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JYMS : Journal of Yeungnam Medical Science

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Kyu Young Shim 1 Article
Ocular manifestations in a patient with de novo Fabry disease
You Hyun Lee, Kyu Young Shim, Sung Bae Park, Yu Cheol Kim
Yeungnam Univ J Med. 2018;35(2):232-235.   Published online December 31, 2018
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AbstractAbstract PDF
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.


Citations to this article as recorded by  
  • Implications of Corneal Refractive Surgery in Patients with Fabry Disease
    Majid Moshirfar, Nour Bundogji, Alyson N. Tukan, Yasmyne C. Ronquillo
    Ophthalmology and Therapy.2022; 11(3): 925.     CrossRef

JYMS : Journal of Yeungnam Medical Science