Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies
M. Palmer, W. R. Green, I. H. Maumenee, D. L. Valle, H. S. Singer, S. J. Morton and H. W. Moser
The presence of lipid storage was demonstrated in type C Niemann-Pick
disease by histopathologic and ultrastructural studies. Pleomorphic
membranous inclusions, with variable proportions of light and dark granular
material, were observed within the conjunctival fibrocytes, endothelial
cells and pericytes, keratocytes, lens epithelium, retinal ganglion cells,
retinal pigment epithelium, fibrocytes in the uveal tract, and optic nerve
fibrous astrocytes. Only optic nerve and retinal ganglion cell involvement
had clinical counterparts represented by optic nerve pallor and perimacular
gray discoloration.
