Ocular abnormalities in mucolipidosis IV

K. G. Riedel, J. Zwaan, K. R. Kenyon, E. H. Kolodny, L. Hanninen, Daniel Albert

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)125-136
Number of pages12
JournalAmerican journal of ophthalmology
Volume99
Issue number2
DOIs
StatePublished - Feb 15 1985
Externally publishedYes

Fingerprint

Eye Abnormalities
Mucolipidoses
Optic Atrophy
Microscopy
Epithelial Cells
Light
Retinal Degeneration
Retinitis Pigmentosa
Retinal Ganglion Cells
Chondroitin Sulfates
Conjunctiva
Schwann Cells
Plasma Cells
Glycosaminoglycans
Transmission Electron Microscopy
Intellectual Disability
Cornea
Cataract
Phospholipids
Endothelial Cells

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Riedel, K. G., Zwaan, J., Kenyon, K. R., Kolodny, E. H., Hanninen, L., & Albert, D. (1985). Ocular abnormalities in mucolipidosis IV. American journal of ophthalmology, 99(2), 125-136. https://doi.org/10.1016/0002-9394(85)90220-X

Ocular abnormalities in mucolipidosis IV. / Riedel, K. G.; Zwaan, J.; Kenyon, K. R.; Kolodny, E. H.; Hanninen, L.; Albert, Daniel.

In: American journal of ophthalmology, Vol. 99, No. 2, 15.02.1985, p. 125-136.

Research output: Contribution to journalArticle

Riedel, KG, Zwaan, J, Kenyon, KR, Kolodny, EH, Hanninen, L & Albert, D 1985, 'Ocular abnormalities in mucolipidosis IV', American journal of ophthalmology, vol. 99, no. 2, pp. 125-136. https://doi.org/10.1016/0002-9394(85)90220-X
Riedel KG, Zwaan J, Kenyon KR, Kolodny EH, Hanninen L, Albert D. Ocular abnormalities in mucolipidosis IV. American journal of ophthalmology. 1985 Feb 15;99(2):125-136. https://doi.org/10.1016/0002-9394(85)90220-X
Riedel, K. G. ; Zwaan, J. ; Kenyon, K. R. ; Kolodny, E. H. ; Hanninen, L. ; Albert, Daniel. / Ocular abnormalities in mucolipidosis IV. In: American journal of ophthalmology. 1985 ; Vol. 99, No. 2. pp. 125-136.
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