Electroretinography and Fundus Oculi Findings in Hurler's Disease and Allied Mucopolysaccharidoses

Introduction It has become apparent in recent years that Hurler's syndrome (gargoylism) is not a single entity but is one of a spectrum of genetically-determined biochemical disorders. A major advance in understanding and differentiating the condition occurred with the discovery by Dorfman and Lorencz 8 in 1957, and Meyer 21 in 1958, of increased mucopolysaccharides (MPS's) in the urine of patients with Hurler's disease. Meyer suggested that abnormally elevated amounts of mucopolysaccharides, chondroitin sulfate B, and heparitin sulfate, result from a genetic abnormality in the differentiation of the fibroblasts which produce these substances. There is an alternate theory of faulty binding of mucopolysaccharides to protein because of an abnormality in the latter. 9 Detailed qualitative and quantitative examination of the urinary MPS's is necessary for accurate diagnosis and classification. 18 On clinical, biochemical, and genetic grounds, McKusick 22 has grouped the mucopolysaccharide diseases as follows: MPS 1.—The autosomal-recessive Hurler's syndrome