Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The eye of a 47 year old man with tyrosinase-positive oculocutaneous albinism, photophobia, nystagmus and visual acuity 0, 4-0, 5 was histologically examined after orbital exenteration for neoplasia. Histologic serial sections of the centre of the retina showed a continuous 6-8 cell-layer of ganglion cells, without any suggestion of a foveolar pit. The outer layers of the macular retina were altered secondarily by tumor-impression-folds; they were unremarkable at the periphery as were the acid mucopolysaccharides in the receptor region. Electron microscopy of the uvea and the retinal pigment epithelium showed a normal number of pigment granules but a deficiency of melanin, as well as structural anomalies. The absence of the foveolar pit and the decrease of visual acuity in tyrosinase-positive albinism is caused by definite morphologic alteration in the arrangement of ganglion cells in the macular region in the sense of a foveolar aplasia. The etiology is discussed. An identic anomaly has been described in aniridia, similar ones in other congenital ocular diseases.
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PMID:[Foveolar aplasia in tyrosinase-positive oculocutaneous albinisim (author's transl)]. 82 41

Harada's disease is an uncommon autoimmune disease affecting melanocytes located in the uvea, inner ear, skin, hair, and meninges. A classification of Harada's disease presenting with aural symptoms, especially vertigo, was devised on the basis of otoneurological findings. Peripheral vestibular dysfunction, such as staggering in the stepping test, rotato-horizontal or horizontal nystagmus, and diminished labyrinthine function in the caloric nystagmus test, was observed in the vast majority of these patients. Harada's disease with such features was designated as the peripheral type, and was further divided into vestibular, cochleo-vestibular, and cochlear subtypes. Patients only rarely presented with symptoms or signs of central nervous system involvement, and Harada's disease with such features was designated as the central type.
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PMID:Otoneurological observation and classification of Harada's disease presenting with aural symptoms, especially vertigo. 761 Aug 44