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


METHODS
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.


CONCLUSIONS
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.
Noffke
A S
AS
Department of Ophthalmology, Northwestern University Medical School, Chicago, Illinois 60611, USA.
Feder
R S
RS
Greenwald
M J
MJ
O'Grady
R B
RB
Roth
S I
SI
D000293:Adolescent; D044383:Black People; D003316:Corneal Diseases / Q000175:diagnosis* / Q000208:ethnology / Q000601:surgery; D004728:Endothelium, Corneal / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D015948:Keratoplasty, Penetrating; D009081:Mucolipidoses / Q000175:diagnosis* / Q000208:ethnology / Q000601:surgery; D014617:Vacuoles / Q000473:pathology; D001741:Black or African American