The ocular pigmentary disturbance of human Chediak-Higashi syndrome. A comparative light- and electron-microscopic study and review of the literature

The ultrastructure of the ocular pigment abnormally of human Chediak-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.