The cherry-red spot in Tay-Sachs and other storage diseases.
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.
D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D009896:Optic Atrophy / Q000209:etiology; D012160:Retina / Q000473:pathology*; D013661:Tay-Sachs Disease / Q000473:pathology*; D014792:Visual Acuity