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December 1965

Fabry's Disease: Its Ocular Manifestations

Author Affiliations

Bethesda, Md
From the Ophthalmology Branch, National Institute of Neurological Diseases and Blindness (Dr. Spaeth) and the Dermatology Branch, National Cancer Institute (Dr. Frost), Public Health Service, US Department of Health, Education, and Welfare, Bethesda, Md.

Arch Ophthalmol. 1965;74(6):760-769. doi:10.1001/archopht.1965.00970040762005

Introduction  Our knowledge of Fabry's disease, long made up of smatterings, has recently blossomed. Just prior to the onset of the 20th century Fabry described a 13-year-old German boy with a peculiar skin eruption characterized by small, dark purple lesions, which, though heavily concentrated in the area of the thighs and genitalia, were lightly scattered over most of the body.1,2 Proteinuria and puffy eyelids were present. Fabry proposed the name angiokeratoma corporis diffusum universale, and demonstrated vascular lesions, which appeared to be intraepidermal. He noted their wide distribution, in contrast to the localized angiokeratoma of Fordyce and Mibelli.3,4 Around the same time Anderson reported a similar case from England.5During succeeding years occasional reports enriched the dermatologic literature, making manifest the fact apparent even in the first cases, that the disease involved more than just the skin, and Pompen and his colleagues, largely since the Second World