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

Purpose, We report an unusual case of mucolipidosis IV in a patient of Afri can ancestry, with intracytoplasmic inclusions of the corneal endothelium f ound on electron microscopy. Method. Clinical description with light and el ectron microscopy. Results. We describe a case of mucolipidosis IV diagnose d in a patient of African ancestry after penetrating keratoplasty. Electron microscopic evaluation revealed intracytoplasmic inclusions in both the co rneal epithelium and endothelium. Conclusion. The diagnosis of mucolipidosi s in a patient of African ancestry is unusual, as this genetic disorder is found predominantly in individuals of Jewish descent. Corneal endothelial i nvolvement in mucolipidosis IV has not previously been reported.