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
Weingeist TA, Blodi FC. Fabry's Disease: Ocular Findings in a Female CarrierA Light and Electron Microscopic Study. Arch Ophthalmol. 1971;85(2):169-176. doi:10.1001/archopht.1971.00990050171010