Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A rare case of Kufs' disease with retinal lesions is reported in which the first symptom of visual disturbances later resulted in total blindness. Various neurologic symptoms and mental deterioration also developed. The total duration of the illness was 32 years. Neuropathologic examination showed extensive ballooned nerve cells filled with lipopigments in the CNS. In the retina there was a thinning with severe loss of rods, cones, and outer nuclear and outer plexiform layers. The remaining ganglion cells of the retina were also ballooned and accumulated with lipopigments. Histochemical and electron microscopic examinations disclosed that the lipopigments in the ballooned neurons of the CNS and the retina were identical with lipofuscin pigments.
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PMID:Adult type of neuronal ceroid-lipofuscinosis with retinal involvement. 651 85