Gaucher disease is an autosomal recessive lipid-storage disease. Deficiencyin the enzyme glucosylceramidase, normally present in macrophage lysosomes,leads to accumulation of glucosylceramide in scavenger macrophages and subsequentdeposition 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 treatedwith splenectomy at an early age to eliminate splenomegaly and resultant splenicsequestration of platelets. During the past decade, enzyme replacement therapywith intravenous infusions of glycosylceramidase has proven safe and effectivefor treating the visceral manifestations of Gaucher disease.2
A 20-year-old white woman had best-corrected visual acuities of 20/160OD and 20/60 OS. There was a small-angle esotropia in the right eye. Althoughshe had long complained of floaters, her visual acuity had been correctableto 20/25 OU until 2 years earlier. Results of anterior segment examinationwere normal. The posterior segment examination showed moderate to dense vitreousopacities in both eyes, overlying the optic nerve head, vessels, and vitreous(Figure 1). There was a conspicuousabsence of inflammatory cells in the vitreous bilaterally. Fluorescein angiographyshowed normal dye transit, blockage of fluorescence due to the vitreal opacities,and marked vascular tortuosity (Figure 2).
Fundus photographs of both eyesshowing prominent vitreous opacities.
Fluorescein angiograms of botheyes in transit phase showing blockage of fluorescence caused by vitreal opacities,and vascular tortuosity.
The patient underwent standard 20-gauge pars plana vitrectomy in theright eye. A vitreous aspirate specimen obtained before infusion instillationwas stained with hematoxylin-eosin (Figure3). The material was paucicellular, with some degenerated and afew typical Gaucher cells. The entire vitrectomy specimen was sent for centrifugationand analyzed via thin-layer chromatography, which showed a large amount ofglucosylceramide (Figure 4).
Vitreous aspirate showing a Gauchercell (hematoxylin-eosin, original magnification ×250).
Thin-layer chromatography of lipidsfrom vitreous and control lipids. Phospholipids were removed by alkaline methanolysis,dried under nitrogen gas, and resolved on borate-impregnated silica gel plates.Note intense staining of the glucosylceramide band in the patient.
Postoperative photographs of the operated-on eye showed a few remainingpreretinal white dots studding the retina and around the optic nerve head.A macular pucker was evident (Figure 5).Visual acuity was 20/40 at 6 months of follow-up.
Color fundus photograph obtained6 months postoperatively. A few preretinal white dots stud the retina andoptic nerve. A macular pucker is evident.
Gaucher disease often occurs in Ashkenazi Jews but is panethnic.2 Type 1 Gaucher disease is characterized by an absenceof central nervous system involvement, in contrast to types 2 and 3, whichhave primary central nervous system disease. Classic descriptions of thisdisease mention multiple ocular and neurologic associations, such as conjunctivalpterygia, strabismus, and trismus with retroflexion of the neck. Vitreousopacities in this disorder were first noted by Cogan et al3 andGass.4 The incidence of vitreous opacitieswas found to be approximately 3% in a series of 80 consecutive patients withtype 1 Gaucher disease.5 Only those whohave undergone splenectomy have a tendency to form vitreous aggregates. Perhapsthis is due to the occurrence of more circulating glucosylceramide in thesepatients, resulting in manifestations in unusual systemic locations, suchas the eye. Our case is, to our knowledge, both the most severe that has beenreported and the first noting retinal vascular tortuosity. The corkscrew vascularpattern is reminiscent of that in Fabry disease, a related disorder of sphingolipidmetabolism. In our case, there were Gaucher cells in the vitreous cavity,while the vitreous gel contained large amounts of glucosylceramide.
The pathophysiologic mechanism of glucosylceramide deposition in thevitreous cavity is unclear. The material is a by-product of breakdown of myelin,leukocytes, red blood cells, and endothelial cells; myelin may be depositedwithin the eye when oligodendroglial cells migrate through the lamina cribrosa.Alternatively, deposition may occur by leakage from the vasculature. The latteris less likely, as glucosylceramide is not deposited within neurons in type1 Gaucher disease, although Gaucher cells do accumulate in the periadventitialmacrophages of the brain.1
We have shown that vision may be improved with vitrectomy in patientswith Gaucher disease. It is unknown whether vitreal opacities will recur inour patient, as has been reported in patients who have undergone vitrectomyfor vitreous opacities in familial amyloidotic polyneuropathy syndrome.6 The relationship of long-term enzyme replacementtherapy to the vitreous opacities in our patient is speculative.
The authors have no relevant financial interest in this article.
This study was supported by the Kentucky Lions Eye Foundation, Louisville,and in part by a grant from Research to Prevent Blindness Inc, New York, NY.
Correspondence: Dr Barr, Department of Ophthalmology and Visual Sciences,University of Louisville School of Medicine, 301 E Muhammad Ali Blvd, Louisville,KY 40202 (firstname.lastname@example.org).
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