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Fabry’s Disease

  • Juan Orellana
  • Alan H. Friedman

Abstract

Fabry’s disease, also called angiokeratoma corporis diffusum universale, is an X-linked recessive condition of males. It is due to an inborn error of glycolipid metabolism due to a deficiency of the enzyme α-galactosidase and where ceramide trihexose is stored in tissues. Typically, these patients have cutaneous angiokeratomas and whorl-like corneal dystrophy. Painful febrile episodes, renal failure, and cardiovascular disease develop. The accumulation of the ceramide trihexose in tissues creates the clinical picture. In addition to the corneal whorls, there are associated anterior and posterior capsular lens changes, conjunctival vascular changes, and a tortuosity of the retinal vasculature.

Keywords

Inborn Error Retinal Vasculature Corneal Dystrophy Ocular Pathology Hemizygous Male 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Selected Reading

  1. Font RL, Fine BS (1972). Ocular pathology in Fabry’s disease—histochemical and electron microscopic observations. Am J Ophthalmol 73: 419–430PubMedGoogle Scholar
  2. Riegel EM, Pokorny KS, Friedman AH, et al (1982). Ocular pathology of Fabry’s disease in a hemizygous male following renal transplantation. Surv Ophthalmol 26: 247–252PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1993

Authors and Affiliations

  • Juan Orellana
    • 1
  • Alan H. Friedman
    • 1
  1. 1.Mount Sinai School of MedicineNew YorkUSA

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