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A pedigree of choroideremia Tadahiro Tokushima 1 , Masayuki Horiguchi 2 1Dept of Ophthalmol, Shinshu Univ Sch of Med 2Dept of Ophthalmol, Nagoya Univ Sch of Med pp.1665-1668
Published Date 1996/10/15
DOI https://doi.org/10.11477/mf.1410905057
  • Abstract
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A 25-year-old male presented with visual field defect in the right eye. The corrected visual acuity was 0.7 right and 1.2 left. Ring scotoma was detected by perimetry in both eyes. Flash electroretino-gram was nonrecordable in both eyes. Ophthalmoscopy showed an almost absence of the choroid excepting an area of intact choroid in the macula in both eyes, leading to the diagnosis of choroideremia. Serological and molecular biological examinations were negative. His 49-year-old mother showed depigmented spots in the posterior fundus and pigment clumps in the peripheral retina bilaterally. She was diagnosed as carrier of choroideremia.


Copyright © 1996, 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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