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.
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