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.
D000328:Adult; D003318:Corneal Opacity / Q000473:pathology; D005123:Eye / Q000473:pathology*; D000795:Fabry Disease / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D008297:Male; D012867:Skin / Q000473:pathology