Fabry's Disease: Ocular Findings in a Female Carrier

Abstract

FABRY'S DISEASE (angiokeratoma corporis diffusum) is a specific type of sphingolipid thesaurosis in which a neutral trihexoside accumulates in many cells. A ceramide trihexosidase deficiency has been found to be the major cause for this inborn metabolic error.¹ More specifically, alpha galactosidase is absent in the leukocytes of affected male subjects and only 15% to 40% of its normal activity is found in the leukocytes of female carriers.² The disease is characterized by specific change in the skin and the eyes. Fabry's disease differs from other sphingolipidoses affecting the eye in that it is transmitted as a sex-linked genotype, and it involves other parts of the globe as well as the retina.³ The affected male subjects (hemizygotes) manifest the full disease. The female subjects (heterozygotes or carriers) may be involved to a greater or lesser extent.⁴ Although their skin is usually normal, the carriers nearly always