Ocular manifestations in angiokeratoma corporis diffusum (Fabry).

The diagnosis in males can usually be made on the skin lesions, the numerous dark red macules and papules, appearing in the second decade. Severe pain in the hands and feet, increasing in heat and cold, is the first serious complaint. At a later stage the vascular anomalies in the heart and kidneys become a prominent feature. Renal failure is the usual cause of death, which occurs in the fifth decade of life. In other cases neurological symptoms prevail. In a few cases in males symptoms may be absent. In females symptoms are usually less severe and may even be absent. All cases, regardless of the presence of skin lesions, can be diagnosed by skin biopsy. An abnormal lipid can be demonstrated by special staining techniques in the endothelium and muscular wall of the vessels of all calibre (Ruiter, 1953) (Fig. i). The storage of the substance in various organs leads to the different signs and symptoms of the disease. The nature of the lipid had long been obscure, but has now been shown by Sweeley and Klionsky (I963) to be a glycolipid. The metabolic disorder was identified as a deficiency in ceramide trihexosidase (Brady, Gal, Bradley, Mlartensson, Warshaw, and Laster, I967).