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lüll Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis Goebel HH; Schochet SS; Jaynes M; Gutmann LActa Anat (Basel) 1998[]; 162 (2-3): 127-32A 33-year-old woman died of biopsy-proven adult neuronal ceroid lipofuscinosis (NCL) or Kufs' disease marked by fingerprint and curvilinear lipopigments in neural and nonneural cell types. She had never experienced visual impairment or shown electroretinographic abnormalities. At autopsy, her retina appeared intact without degeneration at the light-microscopic level, but nerve cells in different layers were loaded with lipopigments of the granular type. This appears to be the third ultrastructural study of the retina in a patient with adult NCL, a former one showing preservation of the retina, another retinal degeneration. Thus, only further molecular genetic data will clarify the nosology of adult NCL with and without retinal degeneration.|*Lipids[MESH]|Adult[MESH]|Fatal Outcome[MESH]|Female[MESH]|Humans[MESH]|Microscopy, Electron[MESH]|Neuronal Ceroid-Lipofuscinoses/*pathology[MESH]|Pigments, Biological[MESH]|Retina/*ultrastructure[MESH]|Retinal Ganglion Cells/ultrastructure[MESH] |