The ocular pigmentary disturbance of human Chédiak-Higashi syndrome. A comparative light- and electron-microscopic study and review of the literature.
The ultrastructure of the ocular pigment abnormality of human Chédiak-Higashi syndrome is described. The presence of giant abnormal melanosomes, probably the end result of the fusion of smaller abnormal organelles, was the most striking pathologic finding. This defect involved both optic cup and neural crest-derived melanocytes; the former were affected more severely. Giant lysosome-like organelles were also observed.
D002609:Chediak-Higashi Syndrome / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008544:Melanocytes / Q000473:pathology* / Q000648:ultrastructure; D010858:Pigmentation; D012160:Retina / Q000473:pathology* / Q000648:ultrastructure; D014602:Uvea / Q000473:pathology* / Q000648:ultrastructure