2.6e. Neurological phenotypes



Can J Ophthalmol 2005;40:609-10; SIMD-NAMA

One thing that is described a lot as being part of the lysosomal storage diseases is the cherry-red spot, but again it’s not part of every lysosomal storage disease. But, if a pediatrician sees it in a patient in whom they suspect an LSD it’s another, not pathognomonic sign, but another good clue that this might be the real diagnosis. We all have this normal red dot that is surrounded by this discolouration. When you have a cherry-red spot it just means that the ganglion cell layer is gone, and this is now paler because there’s accumulation of that lysosomal debris and substrate.The colour of the fovea will depend on the pigmentation, which can be ethnic.







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