Farber's disease. Light and electron microscopic study of the eye.
A 35-month-old girl had Farber's disease (disseminated lipogranulomatosis) manifested clinically by macular cherry-red spots. The pathologic changes consisted of intracellular inclusions of varying morphologic features and density. The most frequently encountered inclusion was 1.2 micron wide and consisted of flattened stacks of osmophilic lamellae (2.1 to 2.3 nm thick, with 4.4-nm periodicity) oriented in parallel or oblique array ("zebra-body" configuration) and enclosed by a focally discontinuous unit membrane. Some of the inclusions contained curved tubular profiles resembling curvilinear tubular bodies. The retinal ganglion cells were grossly distended with inclusions and showed the greatest pathologic changes.
Zarbin
M A
MA
Green
W R
WR
Moser
H W
HW
Morton
S J
SJ
D000328:Adult; D003228:Conjunctiva / Q000648:ultrastructure; D003315:Cornea / Q000648:ultrastructure; D005123:Eye / Q000648:ultrastructure*; D005260:Female; D002517:Galactosylgalactosylglucosylceramidase / Q000378:metabolism; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D009900:Optic Nerve / Q000648:ultrastructure; D012160:Retina / Q000648:ultrastructure; D012590:Sclera / Q000648:ultrastructure; D013106:Sphingolipidoses / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D013577:Syndrome
D006596:Hexosaminidases; D002517:Galactosylgalactosylglucosylceramidase