Sir,

In the recent article by Shen et al1 entitled ‘Fabry disease manifesting as chronic uveitis-treated with enzyme replacement therapy’ the provocative presumption is that uveitis in a patient with Fabry disease was improved by enzyme replacement therapy. We have had experience with chronic uveitis in two patients (0.4% of 527 patients in our clinic) with another lysosomal storage disease, Gaucher disease,2 but we did not see any improvement with specific replacement therapy, despite concern to the contrary.3 Both patients have otherwise mild Gaucher disease, but one patient has uveitis well-controlled for 12 years solely by local steroids whereas the other patient has suffered progression of uveitis despite 8 years of steroid drops followed by nearly 5 years of enzyme replacement therapy. The patient described by Shen et al arrived with best-corrected visual acuity (BCVA) at 20/400 (OD), and 20/200 (OS) which improved to 20/70 (OD), and 20/100 (OS) with steroid injection but then deteriorated. Enzyme replacement therapy for 24 weeks resulted in some apparent improvement, but required pars plana vitrectomy with resulting corneal opacity that left the patient with BCVA at 20/400 (OD) and 20/800 (OS) despite continued enzyme therapy.

Whereas the authors' hypothesis that specific ‘lipid-clearing’ therapy should improve the condition if it is Fabry-related, we question whether uveitis in Fabry disease, as in Gaucher disease, is indeed related. In that this is a first report of concordance of uveitis and Fabry disease, heightened awareness of unusual ocular manifestations in Fabry disease is warranted. Nonetheless, despite our lack of optimism vis a vis uveitis, we hope that the patient will continue to benefit from enzyme therapy for all the classic disease parameters of Fabry disease, particularly cardiac manifestations4 which were not mentioned in the report.