Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder.

Abstract

Fabry disease is a rare, life-threatening, and under-diagnosed disease, with distinctive ocular manifestations identifiable during a routine eye examination. The disease is caused by an inherited deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive accumulation of glycosphingolipids throughout the body. Long-term clinical manifestations include renal failure, early stroke, and cardiomyopathy. Recently, enzyme-replacement treatment has become available, heightening the importance of early diagnosis so that treatment can be initiated before irreversible organ damage. Ocular manifestations of Fabry disease include cornea verticillata (whorl-like radial lines emanating from a single vortex, visible on slit-lamp examination), distinctive lenticular opacities, and vascular tortuosity of the conjunctiva and retina. A heightened awareness of Fabry disease among ocular professionals could greatly reduce diagnostic delays and thus reduce the morbidity and mortality of the disease.

• Authors: Nasi Samiy
• Journal: Survey of ophthalmology (Surv Ophthalmol) 2008 Jul-Aug Vol. 53 Issue 4 Pg. 416-23 ISSN: 0039-6257 [Print] United States
• PMID: 18572058 (Publication Type: Journal Article, Review)

Topics

• Eye Diseases (diagnosis)
• Fabry Disease (diagnosis)
• Humans