An eye exam leads to the diagnosis of a rare lysosomal storage disorder: Fabry disease

Published:December 22, 2021DOI:
      A healthy 33-year-old female was referred for an ophthalmic examination for bilateral intermittent blurring of vision. She had a photorefractive keratectomy 8 years prior. Uncorrected vision was 20/20 OU. Slit-lamp examination of the anterior segment revealed bilateral whorl-like golden-brown streaks stemming from the central cornea called cornea verticillata (Fig. 1), classically seen in Fabry disease. This is a lysosomal storage disorder characterized by deficient activity of α‐galactosidase, leading to sphingolipid accumulation in various cells and subsequent organ system dysfunction. Our patient had mild chronic constipation associated with Fabry disease. Active monitoring for end-organ damage and enzyme replacement therapy suitability was initiated.
      Fig 1
      Fig. 1Slit-lamp examination of the right (A) and left (B) cornea in a patient with Fabry disease. White arrows indicate vortex-like golden-brown opacities caused by centripetal movement of sphingolipid-rich corneal stem cells as the epithelium undergoes normal growth and repair.
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