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May 1971

Scheie Syndrome and Macular Corneal DystrophyAn Ultrastructural Comparison of Conjunctiva and Skin

Author Affiliations

Baltimore; Chicago
From the Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore (Mr. Quigley), and the Department of Ophthalmology, University of Illinois Eye and Ear Infirmary, Chicago (Dr. Goldberg).

Arch Ophthalmol. 1971;85(5):553-564. doi:10.1001/archopht.1971.00990050555006

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.