Fabry is an inherited, life-threatening disease characterised by episodes of severe pain and irreversible organ failure. It is rare: incidence ranges from 1:40 000 to 1:60 000 males (Desnick et al. 2001; Meikle et al. 1999). Early symptoms start from the age of 10 years (Eng et al. 2007; Mehta et al. 2004) but they are often misinterpreted and consequently the average age of diagnosis is 29 years (Meikle et al. 1999; Morgan & Crawfurd 1988). Symptoms include debilitating pain, referred to as acroparaesthesia, that can last from minutes to days, as well as hypohydrosis (decreased sweating) and heat intolerance. Fabry disease is caused by an enzyme deficiency. This leads to an accumulation of intermediate products of metabolism in the cells. Progressive accumulation in vascular endothelium results in end-organ damage and patients are at increased risk of stroke, cardiac disease and renal failure. Life expectancy for male patients, with renal dialysis, is 50 years (MacDermot et al. 2001). 

A significant breakthrough in the treatment of Fabry disease occurred in 2001 with the introduction of enzyme replacement therapy (ERT). Unfortunately many patients continue to be diagnosed late, by which time they have developed irreversible end-organ damage. Several ocular signs have been described in Fabry disease, the most consistent of these being vortex keratopathy, which appears in up to 95% of male patients and 88% of females (Sher et al. 1979). These corneal changes present during childhood and have been reported in a 2-year-old boy (Sher et al. 1979). 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 by early ERT in appropriate patients diagnosed at this early stage.