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Vitreous Opacities and Retinal Vascular Abnormalities in Gaucher Disease
Arch Ophthalmol. 2004;122:1395-1398.
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Gaucher disease is an autosomal recessive lipid-storage disease. Deficiency in the enzyme glucosylceramidase, normally present in macrophage lysosomes, leads to accumulation of glucosylceramide in scavenger macrophages and subsequent deposition in the organs of the reticuloendothelial system (liver, spleen, and bone marrow). Enlarged macrophages with a foamy cytoplasm, likened to "crinkled tissue paper," with an eccentrically placed nucleus (Gaucher cells) are abundant, leading to organomegaly with resultant pancytopenia.1 In the past, many affected patients were treated with splenectomy at an early age to eliminate splenomegaly and resultant splenic sequestration of platelets. During the past decade, enzyme replacement therapy with intravenous infusions of glycosylceramidase has proven safe and effective for treating the visceral manifestations of Gaucher disease.2
Report of a Case
A 20-year-old white woman had best-corrected visual acuities of 20/160 OD and 20/60 OS. There was a small-angle esotropia in the right eye. Although she had long complained of floaters, her visual acuity had been . . . [Full Text of this Article]
Comment
Eric M. Shrier, DO;
Charles C. Barr, MD;
Gregory A. Grabowski, MD
Correspondence: Dr Barr, Department of Ophthalmology and Visual Sciences, University of Louisville School of Medicine, 301 E Muhammad Ali Blvd, Louisville, KY 40202 (ccbarr@pol.net).
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