Ocular pathology of Fabry's disease in a hemizygous male following renal transplantation.

Journal Article (Journal Article)

The ocular pathology of a hemizygous male with Fabry's disease after renal transplantation is reported. The ocular pathology in this patient was essentially identical to that which has previously been reported for both hemizygotes and heterozygotes afflicted with Fabry's disease. Glycolipid deposits and/or osmophilic inclusion bodies were found universally throughout the ocular vasculature. Endothelial, perithelial and smooth muscle cells of the vessel walls were preferentially involved. Iris pigment epithelium was affected as were the corneal epithelium cells. Reduplication of the basement membrane was seen on electron microscopy. Retinal ganglion cells were unaffected. Involvement of the retinal pigment epithelium and the corneal endothelium was documented for the first time.

Full Text

Duke Authors

Cited Authors

  • Riegel, EM; Pokorny, KS; Friedman, AH; Suhan, J; Ritch, RH; Desnick, RJ

Published Date

  • March 1982

Published In

Volume / Issue

  • 26 / 5

Start / End Page

  • 247 - 252

PubMed ID

  • 6806927

International Standard Serial Number (ISSN)

  • 0039-6257

Digital Object Identifier (DOI)

  • 10.1016/0039-6257(82)90159-x


  • eng

Conference Location

  • United States