論文

査読有り
2014年6月

Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation

DOCUMENTA OPHTHALMOLOGICA
  • Kazuki Kuniyoshi
  • ,
  • Hiroyuki Sakuramoto
  • ,
  • Kazutoshi Yoshitake
  • ,
  • Kosuke Abe
  • ,
  • Kazuho Ikeo
  • ,
  • Masaaki Furuno
  • ,
  • Kazushige Tsunoda
  • ,
  • Shunji Kusaka
  • ,
  • Yoshikazu Shimomura
  • ,
  • Takeshi Iwata

128
3
開始ページ
219
終了ページ
228
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1007/s10633-014-9436-z
出版者・発行元
SPRINGER

To report the longitudinal clinical course of three Japanese patients from two families with Leber congenital amaurosis/early-onset retinal dystrophy (LCA/EORD), and the results of next-generation DNA sequences on them.
The patients were three Japanese children: a 4-year-old girl, a 6-year-old boy, and a 3-year-old girl. Patients 1 and 2 were siblings, and patient 3 was from an unrelated family. Standard ophthalmic examinations including perimetry, electroretinography, optical coherence tomography, and ultrasonography were performed on each patient. The patients were observed for 28, 16, and 10 years. Whole exomes of the patients and their non-symptomatic parents were analyzed using a next-generation sequence technique.
The decimal visual acuity varied between 0.07 and 0.6 at the initial visit and decreased to counting finger to hand motion in their teens. Funduscopy showed diffuse retinal and macular degeneration. During the follow-up period, a posterior staphyloma developed and the macular area became atrophic. Patient 1 developed cataracts in her early twenties. Genetic analysis revealed a homozygous A126V substitution in the RDH12 gene in all patients.
The three patients with LCA/EORD had a progressive decrease of their vision with the formation of a posterior staphyloma. This is the first report of Japanese patients with LCA/EORD with a RDH12 mutation.

Web of Science ® 被引用回数 : 22

リンク情報
DOI
https://doi.org/10.1007/s10633-014-9436-z
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000335571900007&DestApp=WOS_CPL
ID情報
  • DOI : 10.1007/s10633-014-9436-z
  • ISSN : 0012-4486
  • eISSN : 1573-2622
  • Web of Science ID : WOS:000335571900007

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