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Fabry keratopathy: manifestations and changes over time


Aims The goal was to find if changes in Fabry keratopathy were clinically observable over time. Also observed were variations of Fabry keratopathy, supplemental features, unique presentations and differences between keratopathies of right and left corneas and the same family and genotype.

Methods Biomicroscopic images of Fabry keratopathy in 10 persons with classic Fabry disease, 5 men and 5 women, were captured over an 18-month period. The keratopathies were categorised and scrutinised for changes over time, and differences between corneas of the same individual, family and genotype.

Results Fabry keratopathy ranged from mild change to marked change over 18 months. There was a great variety of whorl patterns. A few keratopathies were amorphous without vortices and many vortices were supplemented with amorphous features. All keratopathies were accompanied by diffuse epithelial haze. There was a range from negligible difference to marked difference between right and left eyes of the same individuals with similarities appearing as imprecise mirror images of each other. In some corneas, prominent vertical streams from the superior limbus integrated into the primary keratopathy. Comparisons between persons with the same family and genotype were obscured by gender and differences between right and left eyes.

Conclusions Practitioners should be better able to detect Fabry disease having a fuller understanding of the variety of presentations of the dynamic, pathognomonic Fabry keratopathy. Routes of continuous centripetal renewal of corneal epithelium are spatially unique to each eye, in some cases subsidised by direct contribution of basal cells streamed from the superior limbus.

  • fabry disease
  • keratopathy
  • cornea verticillata
  • globotriaosylceramide
  • enzyme replacement therapy
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