Fast Five Quiz: Fabry Disease Presentation and Diagnosis

Helmi L. Lutsep, MD


April 06, 2021

When ocular changes are specific, the diagnosis of Fabry disease may be made on the basis of ophthalmologic examination findings. Conjunctival vascular tortuosity may be the most common eye finding associated with Fabry disease. In addition, anterior capsular deposits in the lens or granular spoke-like deposits on the posterior lens may be the first sign of ocular involvement; these features are so characteristic that they are sometimes referred to as the "Fabry cataract."

Corneal changes may vary, however. Findings may show diffuse haziness, but Fabry disease is associated with corneal opacities characterized by whorled streaks extending from a central point to the periphery of the cornea; this finding can only be seen on slit-lamp biomicroscopy. Occasionally, aneurysmal dilatation of thin-walled venules is seen on the bulbar conjunctiva. Mild to marked tortuosity and angulation of the retinal vessels can also occur.

Visual impairment is unusual, and this detail can be helpful in the differential diagnosis.

Learn more about ocular findings.


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