The cherry-red spot in Tay-Sachs and other storage diseases.

Abstract

The disappearance of the cherry-red spot in an otherwise typical patient with Tay-Sachs disease is described and illustrated. This clinical observation has rarely been made, but it is consistent with the pathological finding of loss of retinal ganglion cells. Disappearance of the cherry-red spot has also been observed in GM1 generalized gangliosidosis, the sialidoses known as the cherry-red spot-myoclonus syndrome and the Goldberg syndrome, and Niemann-Pick, type C disease. Thus the absence of a cherry-red spot in the neurologically impaired child or adult does not exclude these diagnoses.

Statistics

050010001500'00'02'04'06'08'10'12'14'16
Citations per Year

3,818 Citations

Semantic Scholar estimates that this publication has 3,818 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Kivlin1985TheCS, title={The cherry-red spot in Tay-Sachs and other storage diseases.}, author={Jane D . Kivlin and George E. Sanborn and Grant G. Myers}, journal={Annals of neurology}, year={1985}, volume={17 4}, pages={356-60} }