Fabry disease and chemosis.
OBJECTIVE
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.


METHODS
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.


RESULTS
Conjunctival fluorescein angiography revealed rapid subconjunctival accumulation of dye in the involved eye but failed to demonstrate leakage from tortuous conjunctival vessels or microaneurysms.


CONCLUSIONS
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.
Edwards
Jayson D
JD
Ophthalmology Service, Walter Reed Army Medical Center, Washington, DC 20307-5001, USA. jayson.edwards@amedd.army.mil
Bower
Kraig S
KS
Brooks
Dain B
DB
Walter
Angela
A
D000783:Aneurysm / Q000209:etiology / Q000473:pathology; D001808:Blood Vessels / Q000473:pathology; D002386:Cataract / Q000209:etiology / Q000473:pathology; D002908:Chronic Disease; D003228:Conjunctiva / Q000098:blood supply; D003229:Conjunctival Diseases / Q000175:diagnosis / Q000209:etiology*; D004487:Edema / Q000175:diagnosis / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012171:Retinal Vessels / Q000473:pathology; D000519:alpha-Galactosidase / Q000627:therapeutic use
D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta