神戸大学附属図書館デジタルアーカイブ
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https://hdl.handle.net/20.500.14094/90004415
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2024-03-29
16:28 集計
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90004415 (fulltext)
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メタデータID
90004415
アクセス権
open access
出版タイプ
Version of Record
タイトル
Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan
著者
Ueda, Kaori ; Morizane, Yuki ; Shiraga, Fumio ; Shikishima, Keigo ; Ishikawa, Hitoshi ; Wakakura, Masato ; Nakamura, Makoto
著者名
Ueda, Kaori
著者名
Morizane, Yuki
著者名
Shiraga, Fumio
著者名
Shikishima, Keigo
著者名
Ishikawa, Hitoshi
著者名
Wakakura, Masato
著者ID
A0882
研究者ID
1000080273788
KUID
https://kuid-rm-web.ofc.kobe-u.ac.jp/profile/ja.82142348522a81ad520e17560c007669.html
著者名
Nakamura, Makoto
中村, 誠
ナカムラ, マコト
所属機関名
医学研究科
収録物名
Journal of Epidemiology
巻(号)
27(9)
ページ
447-450
出版者
Elsevier Science
刊行日
2017-09
公開日
2017-12-21
抄録
Background: Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy that leads to central loss of vision, predominantly in young males. Most LHON cases have one of three primary point mutations in mitochondrial DNA (mtDNA). The annual incidence and prevalence of LHON in Japan are not known. Thus, we estimated the annual incidence of molecularly confirmed LHON in Japan during 2014. Methods: Sequential questionnaires were sent to 1397 facilities, which included all of the university hospitals in Japan, and they were certified by either the Japanese Ophthalmological Society or the Japanese Neuro-Ophthalmological Society. We calculated the incidence number (Ir) as the number of patients who developed LHON in 2014 and its 95% confidence interval. Results: We received 861 responses to the first questionnaire, where 49 facilities reported 72 cases (67 were male and 5 were female) of newly developed LHON during 2014. Ir was calculated as 117, and the 95% confidence interval ranged from 81 to 153. For the second questionnaire, responses were received from 30 facilities, where the median age at onset was 38 years for males and 30 years for females, and 86.5% of cases possessed the mtDNA ND4/G11778A mutation. Conclusion: Approximately 120 cases of newly developed LHON were reported during 2014 in Japan, and 93.2% were males.
キーワード
Annual incidence
Gender proportion
Leber hereditary optic neuropathy
Mitochondrial DNA
Penetrance
カテゴリ
医学研究科
学術雑誌論文
権利
© 2017 The Authors. Publishing services by Elsevier B.V. on behalf of The Japan Epidemiological Association.
This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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資源タイプ
journal article
言語
English (英語)
ISSN
0917-5040
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eISSN
1349-9092
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関連情報
DOI
https://doi.org/10.1016/j.je.2017.02.001
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