Fabry's disease is associated with high incidence of thrombosis in hemizygous males and heterozygous females. We describe a woman with Fabry's disease who developed hemi-central retinal vein occlusion during the follow-up. The vein occlusion showed a fulminant course ending with a painful blind eye within a short period. Fabry's disease should be considered in the differential diagnosis of the vascular occlusive disorders especially in young patients.
FarraggianaT., ChurgJ., GrishmanE.Light and electron microscopic histochemistry of Fabry's disease.Am J Pathol1981; 103: 247–62.
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KirkilionisA.J., RiddellD.C., SpenceM.W., FenwickE.G.Fabry's disease in a large Nova Scotia kindred: carrier detection using leucocyte α-galactosidase activity and an Ncol polymorphism detected by an α-galactosidase cD-NA clone.J Med Genet1991; 28: 232–40.
HayrehS.S., KlugmanM.R., BeriM., KimuraA.E., PodhajskyP.Differentiation of ischemic from non-ischemic central retinal vein occlusion during the early acute phase.Graefe's Arch Clin Exp Ophthalmol1990; 228: 201–17.
