Ceroid-lipofuscinosis (Batten's disease). First ophthalmological report of cytoplasmic inclusions in the Schwann's cell of the sural nerve in two patients with an amaurotic familial idiocy.
D000135:Acid Phosphatase / Q000378:metabolism; D001706:Biopsy; D002467:Cell Nucleus / Q000201:enzymology; D002648:Child; D003593:Cytoplasm; D005133:Eye Movements; D005260:Female; D006801:Humans; D002479:Inclusion Bodies; D008064:Lipidoses / Q000473:pathology / Q000503:physiopathology; D008247:Lysosomes; D008297:Male; D008854:Microscopy, Electron; D010859:Pigmentation Disorders; D012168:Retinal Pigments; D012583:Schwann Cells; D013127:Spinal Nerves / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology; D014792:Visual Acuity
D012168:Retinal Pigments; D000135:Acid Phosphatase