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Ocular manifestations of Scheie syndrome Tatsuhiko Kaminagayoshi 1,3 , Fumiyuki Uehara 1 , Manabu Kawazu 2 , Masaru Kuriyama 2 , Mitsuhiro Naya 2 1Div of Ophthalmol, Kagoshima-kenritsu Ohshima Hosp 2Dept of 3 rd Intenal Med, Fac of Med, Kagoshima Univ 3Dept of Ophthalmol, Fac of Med, Kagoshima Univ pp.1059-1062
Published Date 1992/7/15
DOI https://doi.org/10.11477/mf.1410901246
  • Abstract
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A 46-year-old male showed systemic clinical features compatible with Scheie syndrome. Charac-teristic findings of the syndrome were present in lysosomal enzymes in peripheral lymphocytes and in fibroblasts cultured from the skin, and in labora-tory data including urinary mucopolysaccharides.Ophthalmic features included clouding in the peripheral corneas with diffuse ground-glass opac-ity in the stromal layer, retinal pigmentary degener-ation with midperipheral visual field defects and subnormal response on electroretinogram. Both parents and grandparents were cousins. His elder brother manifested similar systemic, ocular and laboratory features. This is the first report of detailed ocular findings in Scheie syndrome in Japan.


Copyright © 1992, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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