Corneal clouding in the genetic mucopolysaccharidoses: A cell culture study

On the basis of the mucopolysaccharide content of cultured corneal and conjunctival fibroblasts and epithelia, corneal clouding reflected an increase in total cellular mucopolysaccharides. The genetic mucopolysaccharidoses could be divided into two groups on the basis of mucopolysaccharide content of both cultured skin and ocular fibroblasts: (1) If corneal clouding was a significant early clinical finding (Hurler and Scheie syndromes), the total mucopolysaccharide content of the cultured fibroblasts was markedly increased. (2) If there was a gradual appearance of corneal clouding later in life (Sanfilippo, Morquio and Maroteaux‐Lamy syndromes), the mucopolysaccharide content of the cultured fibroblasts was only slightly above normal values. The one exception was in the Hunter syndrome, in which corneal clouding did not occur; the mucopolysaccharide content of the cultured ocular fibroblasts was only slightly elevated, whereas that of the skin fibroblasts was markedly increased.