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Japanese

A case of familial amyloid polyneuropathy typeⅣ(Finnish type)with lattice corneal dystrophy typeⅡ Hisaki Sekine 1 , Hiroto Obata 2 , Shiroaki Shirato 3 , Susumu Kusunoki 4 , Tadahiko Tsuru 2 1Dept of Ophthalmol,Fac of Med,Univ of Tokyo 2Dept of Ophthalmol,Jichi Med Sch 3Dept of Ophthalmol,Hachioji Med Center,Tokyo Med Univ 4Dept of Neurol,Fac of Med,Univ of Tokyo pp.217-222
Published Date 2004/2/15
DOI https://doi.org/10.11477/mf.1410101042
  • Abstract
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 A 61-year-old woman had been under treatment for difficulty in articulation since 2 years before. She was referred to us for suspected familial amyloidosis(Finnish type,FAF). Her corrected visual acuity was 0.4 right and 0.6 left. She was receiving topical medications for open-angle glaucoma. Both eyes showed lattice corneal dystrophy and opaque spots. The corneal thickness and endothelial cell population were within normal range. Both eyelids were fluffy and ptotic manifesting lagophthalmos. Gene analysis showed G654A,or mutation of guanine to adenine at the 654th base of gelsolin. This finding was the same as in cases in Finland. This patient illustrates that lattice corneal dystrophy typeⅡhas a diagnostic value in FAF and that due attention is necessary to glaucoma which may be an associated feature. This case was not genetically related to previously reported cases of FAF in Japan.


Copyright © 2004, 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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