To report the case of a patient with Fabry disease (FD) whose ocular presentation with chronic chemosis we feel is related to FD and to describe the conjunctival fluorescein angiographic findings.
A 51-year-old male patient with FD on enzyme replacement therapy presented with 1-month chemosis and mild irritation in the left eye. Ocular examination revealed pronounced noninflammatory chemosis inferotemporally in the left eye with conjunctival tortuosity and microaneurysms bilaterally. There was mild corneal verticillata, spoke-like lens opacities, and retinal vascular tortuosity bilaterally, with no evidence of disc or macular edema. Evaluation revealed no systemic cause for his chemosis, including an orbital computerized tomography scan, which showed clear sinuses and no evidence of an intraorbital mass.
Conjunctival fluorescein angiography revealed rapid subconjunctival accumulation of dye in the involved eye but failed to demonstrate leakage from tortuous conjunctival vessels or microaneurysms.
Although the pathology of chronic chemosis in patients with FD is as yet unknown, we believe that FD should be considered in the differential diagnosis of patients presenting with chronic chemosis of unknown etiology.
From the *Ophthalmology Service, Walter Reed Army Medical Center, Washington, DC; † Ophthalmology Service, Bayne-Jones Army Community Hospital, Ft. Polk, LA; and ‡ Genzyme Corporation, Cambridge, MA.
Received for publication March 17, 2008; revision received June 12, 2008; accepted June 14, 2008.
Angela Walter is currently employed by Genzyme Corporation. She was not employed by Genzyme when the clinical data submitted for this study were collected.
Financial support: There was no financial support, public or private, used to fund this study.
Meeting presentation: This material has not been previously presented, nor is it submitted or under consideration for publication elsewhere.
Proprietary interest: The authors have no financial interest in any product, drug, instrument, or equipment discussed in this article.
Disclaimer: The opinions expressed in this manuscript are those solely of the authors and do not represent the views or official policies of the US Army, US Navy, or Department of Defense.
Reprints: Jayson D. Edwards, Ophthalmology Service, Center for Refractive Surgery, Room 2F-200, Walter Reed Army Medical Center, 6900 Georgia Avenue NW, Washington, DC 20307-5001 (e-mail: firstname.lastname@example.org).