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Histopathology of Sanfilippo's Syndrome
Monte A. Del Monte, MD;
Irene H. Maumenee, MD;
William R. Green, MD;
Kenneth R. Kenyon, MD
Arch Ophthalmol. 1983;101(8):1255-1262.
Abstract
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• A 19-year-old woman with Sanfilippo's syndrome had poor vision, a flat electroretinographic pattern, and fundus changes similar to those in retinitis pigmentosa. Histology of her eyes by phasecontrast and electron microscopy showed extensive intracellular accumulation of fibrillogranular and membranous lamellar vacuoles in cornea, trabecular meshwork, iris, lens, ciliary body, and sclera. Retinal ganglion cells, retinal pigment epithelium (RPE), and optic nerve glia were similarly involved. Retinal pigment epithelial hyperplasia and hypopigmentation, intraretinal RPE migration, vascular attenuation, and marked photoreceptor loss were notable and closely resembled that occurring in inherited retinitis pigmentosa. We assume that the patient's blindness was due to photoreceptor cell loss, since the ganglion cells and optic nerve seemed to be intact. Although the cause of photoreceptor loss is unclear, the massive storage of acid mucopolysaccharide and lipofuscin within the RPE might disturb its essential metabolic functions and lead to photoreceptor degeneration.
Author Affiliations
From The Wilmer Ophthalmological Institute, The Johns Hopkins University Hospital, Baltimore (Drs Del Monte, Maumenee, and Green); Department of Corneal Research, Eye Research Institute of Retina Foundation, Boston (Dr Kenyon); and Department of Ophthalmology, Harvard Medical School, Boston (Dr Kenyon). Dr Del Monte is now with the Bethesda Eye Institute, St Louis.
Footnotes
Accepted for publication June 1, 1982.
Reprint requests to Bethesda Eye Institute, 3655 Vista Ave, St Louis, MO 63110 (Dr Del Monte).
This study was supported in part by Public Health Service research grants EY 01773 (Dr Maumenee) and EY 01684-03 (Dr Green) and Academic Investigator Award EY 00156 (Dr Kenyon) from the National Eye Institute, by the James S. Adams Award from Research to Prevent Blindness, Inc, New York (Dr Kenyon), and by a grant-in-aid from Fight for Sight, New York (Dr Kenyon).
Elizabeth Neufeld, PhD, National Institutes of Health, performed the tissue cultures of skin fibroblasts.
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