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Macular Cherry-Red Spot, Corneal Clouding, and β-Galactosidase DeficiencyClinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease
Morton F. Goldberg, MD;
Edward Cotlier, MD;
Larry G. Fichenscher, MD;
Kenneth Kenyon, MD;
Rafael Enat, MD;
Stephen A. Borowsky, MD
Arch Intern Med. 1971;128(3):387-398.
Abstract
A new syndrome which combines clinical features of several storage diseases (mucopolysaccharidoses, sphingolipidoses, and mucolipidoses), but which is nonetheless unique, is characterized by autosomal recessive inheritance and the presence of dwarfism, gargoyle facies, mental retardation, seizures, corneal clouding, macular cherry-red spot, β-galactosidase deficiency, dysostosis multiplex, and hearing deficit. It is also characterized by the absence of clinically enlarged organs, vacuolated blood cells, and mucopolysacchariduria.
Author Affiliations
Chicago
From the Department of Ophthalmology, University of Illinois Eye and Ear Infirmary, Chicago. Dr. Fichenscher is now with Presbyterian St. Luke's Medical Center, Chicago. Dr. Kenyon is now with the Wilmer Institute, Johns Hopkins Hospital, Baltimore. Drs. Enat and Borowsky are now with the West Side Veterans Administration Hospital, Chicago.
Footnotes
Received for publication April 16, 1971; accepted May 14.
Read in part before the meeting of the Association for Research in Vision and Ophthalmology, Sarasota, Fla, April 27, 1971.
Reprint requests to 1855 W Taylor, Chicago 60612 (Dr. Goldberg).
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