Author(s): Riedel KG, Zwaan J, Kenyon KR, Kolodny EH, Hanninen L, Albert DM. Ocular abnormalities in mucolipidosis IV. Am J Ophthalmol. 1985 Feb 15;99(2):125-36. PMID 3918453
Journal: American Journal Of Ophthalmology, Volume 99, Issue 2, Feb 1985
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.