TY - JOUR
T1 - Ocular abnormalities in mucolipidosis IV
AU - Riedel, K. G.
AU - Zwaan, J.
AU - Kenyon, K. R.
AU - Kolodny, E. H.
AU - Hanninen, L.
AU - Albert, D. M.
N1 - Funding Information:
From the David G. Cogan Eye Pathology Laboratory (Drs. Riedel and Albert), the Pediatric Service (Dr. Zwaan), and the Cornea Service (Dr. Kenyon), Massachusetts Eye and Ear Infirmary, Harvard Medical School and the Eye Research Institute (Dr. Kenyon and L. Hanninen), Boston, Massachusetts; and the Eunice Kennedy Shriver Center for Mental Retardation (Dr. Kolodny), Waltham, Massachusetts. This study was supported in part by grant Ri-4191l-1 from Deutsche Forschungsgemeinschaft, Bonn, West Germany, and by grant EY-03158from the National Institutes of Health.
PY - 1985/2/15
Y1 - 1985/2/15
N2 - Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. Light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, Schwann cells, retinal ganglion cells, and vascular endothelial cells. Light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy.
AB - Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. Light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, Schwann cells, retinal ganglion cells, and vascular endothelial cells. Light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy.
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U2 - 10.1016/0002-9394(85)90220-X
DO - 10.1016/0002-9394(85)90220-X
M3 - Article
C2 - 3918453
AN - SCOPUS:0021950575
SN - 0002-9394
VL - 99
SP - 125
EP - 136
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
IS - 2
ER -