Fabry's disease (angiokeratoma corporis diffusum universale): ocular and associated findings

Fabry's disease is one of the sphingolipidoses which results from the enzyme deficiency, alpha-galactosidase-A. It is a rare, hereditary, multiorgan disorder affecting the eye, skin, kidney, gastrointestinal system, heart, reticuloendothelial system, and central nervous system. Because all affected males and 90% of affected females exhibit ocular abnormalities, optometrists may be the first health care practitioners to identify these individuals.