Corneal graft specimens were obtained from two patients with Type I Hurler/Scheie systemic mucopolysaccharidosis. Light and transmission electron microscopy were performed. Numerous vacuoles containing a predominance of fibrillogranular and some multimembranous materials were noted in corneal epithelial cells, histiocytes, keratocytes, and endothelial cells. The clinical presentation and enzyme deficiency responsible for the syndrome are reviewed. Case reports and possible genetic mechanisms are presented.
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