A family with Fabry's disease. Ocular manifestations and transmission electron microscopic examination of a skin lesion biopsy.

A family with Fabry's disease including 2 hemizygotes and 3 heterozygotes is reported. The ocular manifestations include tortuosity of conjunctival vessels, Fabry's deposits underlying the anterior capsule of the lens and the whorl-like corneal dystrophy. Foam cells or mulberry cells in the urinary sediment and varying numbers of high electron-dense inclusions in the cytoplasm of endothelial cells in skin lesions are also important in diagnosing this disease. The concentrations of lipid peroxide in the sera of 2 hemizygotes in this report were higher than normal, possibly due to the patients weak ability of anti-oxygenation and malfunction of cells whose plasma membranes are easily attacked by free oxygen radicals. The biochemical and pathological changes, diagnosis, treatment, genetics and prevention of the disease are discussed.