Gangliosidoses and the fetal retina.
Abnormal membranous cytoplasmic inclusions were found in the retinal ganglion cells of two fetuses with gangliosidosis. One was a documented case of incipient Tay-Sachs disease (Gm2) and the other a case of generalized gangliosidosis (Gm1). Both specimens were obtained iatrogenically in the 20th to 21st week of gestation after amniocentesis had indicated the enzyme deficiency.
D000649:Amniocentesis; D005260:Female; D005677:G(M1) Ganglioside / Q000378:metabolism*; D005732:Gangliosides / Q000378:metabolism*; D005733:Gangliosidoses / Q000473:pathology*; D005865:Gestational Age; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008854:Microscopy, Electron; D011247:Pregnancy; D012160:Retina / Q000473:pathology*; D012165:Retinal Ganglion Cells / Q000648:ultrastructure; D013661:Tay-Sachs Disease / Q000473:pathology*
D005732:Gangliosides; D005677:G(M1) Ganglioside