Scheie Syndrome and Macular Corneal Dystrophy

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Abstract
In the first electron microscope study of tissue from a patient with mucopolysaccharidosis type V (Scheie syndrome), multiple vacuolations were seen in fibroblasts from conjunctiva and skin and in conjunctival epithelial cells. Inclusions were single membrane-limited, contained a granulofibrillar material, and were associated with Golgi areas. Skin epithelium was normal. Skin and bulbar conjunctiva from the inferior fornix in four patients with macular corneal dystrophy were normal. In one macular dystrophy patient, a second conjunctival biopsy, taken 2 mm from the limbus, showed fibroblasts with dilated rough endoplasmic reticulum.