Scheie's syndrome. An ultrastructural analysis of the cornea.

The histopathology of a corneal graft specimen obtained from a patient with Scheie's syndrome (systemic mucopolysaccharidosis, type IS) is described with particular emphasis on the ultrastructural findings. Numerous vacuoles containing fibrillogranular material were found in the corneal epithelial cells, the keratocytes, and the endothelial cells. The basement membrane of the epithelium contained frequent breaks and peg-like undulations, and Bowman's layer was markedly attenuated. Fibrous long-spacing (FLS) collagen featured prominently in the stroma. Descemet's membrane was normal. The findings of a markedly attenuated Bowman's layer and FLS collagen may be abnormalities specific to Scheie's syndrome resulting from the altered glycosaminoglycan composition of the extracellular matrix.