Mucolipidosis IV in an African American patient with new findings on electron microscopy

Amy S. Noffke, Robert S. Feder*, Mark J. Greenwald, Richard B. O'Grady, Sanford I. Roth

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

Purpose. We report an unusual case of mucolipidosis IV in a patient of African ancestry, with intracytoplasmic inclusions of the corneal endothelium found on electron microscopy. Method. Clinical description with light and electron microscopy. Results. We describe a case of mucolipidosis IV diagnosed in a patient of African ancestry after penetrating keratoplasty. Electron microscopic evaluation revealed intracytoplasmic inclusions in both the corneal epithelium and endothelium. Conclusion. The diagnosis of mucolipidosis in a patient of African ancestry is unusual, as this genetic disorder is found predominantly in individuals of Jewish descent. Corneal endothelial involvement in mucolipidosis IV has not previously been reported.

Original languageEnglish (US)
Pages (from-to)536-539
Number of pages4
JournalCornea
Volume20
Issue number5
DOIs
StatePublished - 2001

Keywords

  • Corneal clouding
  • Corneal endothelium
  • Developmental delay
  • Electron microscopy
  • Lysosomal storage disease
  • Mucolipidosis IV
  • Penetrating keratoplasty
  • Pigmentary retinopathy

ASJC Scopus subject areas

  • Ophthalmology

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