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Occurrence of cherry red spot, corneal clouding and sialidase deficiency in six adults in three families Michiko Higuchi 1 , Takashi Ohzeki 1 , Yohko Kusaba 1 , Daizo Ito 1 , Naohiko Tanaka 1 , Masao Sakai 2 , Masao Akagi 2 1Department of Ophthalmology, Yokohama City University School of Medicine 2Department of Neurology and Psychiatry Yokohama City University School of Medicine pp.937-943
Published Date 1981/6/15
DOI https://doi.org/10.11477/mf.1410208369
  • Abstract
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We observed 6 adult patients in 3 families who manifested cherry red spot in the macula, corneal clouding, myoclonus, cerebellar ataxia, angiokera-toma and gargoyle faces. The corneal clouding was located in the deep stromal layer. In all the 5 cases who were available for detailed study, we could confirm reduced activity of ,β-galactocidase and neuraminidase in the peripheral leucocytes. The pedigree studies indicated an autosomal reces-sive mode of inheritance for the condition.


Copyright © 1981, 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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