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

• Lee YH
• Shim KY
• Park SB
• Kim YC

• KMID: 2433745
• DOI: http://doi.org/10.12701/yujm.2018.35.2.232

Abstract

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.

Keyword

Cornea verticillata; De novo mutation; Fabry disease

MeSH Terms

Adult
Aneurysm
Angiography
Asian Continental Ancestry Group
Cornea
Dilatation
Fabry Disease*
Fluorescein Angiography
Humans
Indocyanine Green
Male
Metabolism
Photography
Slit Lamp
Tomography, Optical Coherence
Indocyanine Green

Figure

• 

  Fig. 1. The family tree of de novo Fabry disease. The patient had a mutation in hemizygosis at nucleotide c.293 C>T, this mutation was not detected from his mother and older brother.

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  Fig. 2. Photographs of a patient with de novo Fabry disease. Cornea verticillata (arrow) show whorl-like pattern of white, brown corneal opacity in the right eye (A) and left eye (B). (C) Tortuosity and dilatation of episcleral vessel (arrow) of the right eye. Tortuosity and aneurysmal dilatation of the inferior bulbar conjunctiva vessels (arrow) in the right eye (D) and left eye (E). (F) Lens evalua- tion show no signs of Fabry cataract.

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  Fig. 3. Photographs of fluorescein angiography and indocyanine green angiography (A, right eye; B, left eye) taken about 2 minutes after the injection show no vascular abnormality.

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