College of Optometrists

OiP Volume 11 Issue 3 - Vortex Keratopathy and Fabry Disease: A Case Series Highlighting the Role of the Optometrist

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Published: 26 Aug 2010

Summary

Fabry is an inherited, life-threatening disease characterised by episodes of severe pain and irreversible organ failure. It is rare, with incidence ranging from 1:40 000 to 1:60 000 males. Several ocular signs have been described in Fabry disease: the most consistent is vortex keratopathy, which appears in up to 95% of male patients and 88% of females. These corneal changes present during childhood and have been reported in a 2-year-old boy. Eye care professionals are in the unique position of being able to detect ocular signs of the disease more than a decade before systemic symptoms are likely to lead to a diagnosis. End-organ damage may be limited with early ERT in appropriate patients diagnosed at this early stage.