151. Ocular abnormalities in mucolipidosis IV.
- Author
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Riedel KG, Zwaan J, Kenyon KR, Kolodny EH, Hanninen L, and Albert DM
- Subjects
- Adult, Chondroitin Sulfates urine, Conjunctiva ultrastructure, Corneal Opacity pathology, Face abnormalities, Humans, Intellectual Disability complications, Male, Microscopy, Electron, Optic Atrophy complications, Psychomotor Disorders complications, Retinal Degeneration pathology, Retinal Ganglion Cells ultrastructure, Corneal Opacity complications, Mucolipidoses complications, Retinal Degeneration complications
- Abstract
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.
- Published
- 1985
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