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Electroretinography and Fundus Oculi Findings in Hurler's Disease and Allied Mucopolysaccharidoses
JAMES P. GILLS, MD;
ROBERT HOBSON, MD;
W. BRIAN HANLEY, MD;
VICTOR A. McKUSICK, MD
Arch Ophthalmol. 1965;74(5):596-603.
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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 Lorencz8 in 1957, and Meyer21 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, McKusick22 has grouped the mucopolysaccharide diseases as follows:
MPS 1.—The autosomal-recessive Hurler's syndrome
. . . [Full Text PDF of this Article]
Author Affiliations
Baltimore
From the departments of ophthalmology and medicine, the Johns Hopkins Hospital and the Johns Hopkins University School of Medicine.
Footnotes
Submitted for publication March 24, 1965.
Read before the Association for Research in Ophthalmology Eastern Section Meeting, March 18, 1965 and the Wilmer Meeting, April 30, 1965.
Reprint requests to Box 3802, Department of Ophthalmology, Duke University Hospital, Durham, NC 27706.
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