Ocular ultrastructural studies of two cases of the hurler syndrome (systemic mucopolysaccharidosis i-h)

Chi Chao Chan, W. Richard Green, I. H. Maumenee, George Henry Sack

Research output: Contribution to journalArticle

Abstract

The ocular histopathology of Hurler syndrome (systemic mucopolysaccharidosis, type I-H), with emphasis on ultrastructural findings is reported in two cases. Numerous fine fibrillogranular inclusions were observed in: conjunctival fibrocytes; corneal epithelium, keratocytes and endothelium; uveal melanocytes and fibrocytes; ciliary epithelium; smooth muscle cells of ciliary body; pericytes; lens epithelium; retinal pigment epithelium; ganglion cells; and sclerocytes. Some multimembranous inclusions were noted in Schwann cells, keratocytes, trabecular endothelium, uveal fibrocytes and melanocytes, retinal ganglion cells, sclerocytes, optic nerve astrocytes, and vascular pericytes. Extracellular fibrillogranular material was present in the corneal stroma, Descemet's membrane, and scleral stroma. The extensive involvement of the ocular tissues of these two cases emphasizes Hurler syndrome as the most severe form of the systemic mucopolysaccharidoses.

Original languageEnglish (US)
Pages (from-to)3-19
Number of pages17
JournalOphthalmic Genetics
Volume2
Issue number1
DOIs
StatePublished - 1983

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Mucopolysaccharidoses
Mucopolysaccharidosis I
Pericytes
Melanocytes
Corneal Keratocytes
Epithelium
Descemet Membrane
Corneal Stroma
Corneal Endothelium
Corneal Epithelium
Ciliary Body
Retinal Ganglion Cells
Retinal Pigment Epithelium
Schwann Cells
Optic Nerve
Ganglia
Astrocytes
Lenses
Smooth Muscle Myocytes
Endothelium

Keywords

  • Autophagocytosis
  • Electron microscopy
  • Fibrillogranular material
  • Histochemistry
  • Hurler syndrome
  • Inclusions
  • Membranous inclusions
  • MPS I-H
  • Systemic mucopolysaccharidosis

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Ocular ultrastructural studies of two cases of the hurler syndrome (systemic mucopolysaccharidosis i-h). / Chao Chan, Chi; Richard Green, W.; Maumenee, I. H.; Sack, George Henry.

In: Ophthalmic Genetics, Vol. 2, No. 1, 1983, p. 3-19.

Research output: Contribution to journalArticle

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