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  1. C100 医学部/医学系研究科
  2. C100a 雑誌掲載論文
  3. 学術雑誌

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort

http://hdl.handle.net/2237/25097
http://hdl.handle.net/2237/25097
bee22200-f66a-4fb5-b1aa-533d69956fa1
名前 / ファイル ライセンス アクション
AJOPHT_9731_edit_report_Redacted.pdf AJOPHT_9731_edit_report_Redacted.pdf ファイル公開:2017/08/01 (501.2 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2016-11-24
タイトル
タイトル Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort
言語 en
著者 Nakanishi, Ayami

× Nakanishi, Ayami

WEKO 67468

en Nakanishi, Ayami

Search repository
Ueno, Shinji

× Ueno, Shinji

WEKO 67469

en Ueno, Shinji

Search repository
Hayashi, Takaaki

× Hayashi, Takaaki

WEKO 67470

en Hayashi, Takaaki

Search repository
Katagiri, Satoshi

× Katagiri, Satoshi

WEKO 67471

en Katagiri, Satoshi

Search repository
Kominami, Taro

× Kominami, Taro

WEKO 67472

en Kominami, Taro

Search repository
Ito, Yasuki

× Ito, Yasuki

WEKO 67473

en Ito, Yasuki

Search repository
Gekka, Tamaki

× Gekka, Tamaki

WEKO 67474

en Gekka, Tamaki

Search repository
Masuda, Yoichiro

× Masuda, Yoichiro

WEKO 67475

en Masuda, Yoichiro

Search repository
Tsuneoka, Hiroshi

× Tsuneoka, Hiroshi

WEKO 67476

en Tsuneoka, Hiroshi

Search repository
Shinoda, Kei

× Shinoda, Kei

WEKO 67477

en Shinoda, Kei

Search repository
Hirakata, Akito

× Hirakata, Akito

WEKO 67478

en Hirakata, Akito

Search repository
Inoue, Makoto

× Inoue, Makoto

WEKO 67479

en Inoue, Makoto

Search repository
Fujinami, Kaoru

× Fujinami, Kaoru

WEKO 67480

en Fujinami, Kaoru

Search repository
Tsunoda, Kazushige

× Tsunoda, Kazushige

WEKO 67481

en Tsunoda, Kazushige

Search repository
Iwata, Takeshi

× Iwata, Takeshi

WEKO 67482

en Iwata, Takeshi

Search repository
Terasaki, Hiroko

× Terasaki, Hiroko

WEKO 67483

en Terasaki, Hiroko

Search repository
アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利
言語 en
権利情報 © 2016. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
抄録
内容記述 Purpose: To report the clinical and genetic findings of 9 Japanese patients with autosomal recessive bestrophinopathy (ARB). Design: Retrospective, multicenter observational case series. Methods: Nine ARB patients from 7 unrelated Japanese families that were examined in 3 institutions in Japan were studied. A series of ophthalmic examinations including fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, electrooculography (EOG), electroretinography, and the results of genetic analysis were reviewed. Results: Genetic analyses identified 7 pathogenic variants in BEST1 including 2 novel variants, c.478G>C (p.A160P) and c.948+1delG. Homozygous variants were found in 4 families and compound heterozygous variants were found in 3 families. Two patients were diagnosed as ARB only after the whole exome sequencing analyses. The Arden ratio of the EOG was less than 1.5 in all 7 patients tested. Vitelliform lesions typical for Best vitelliform macular dystrophy were not seen in any of the patients. Seven patients shared some of the previously described features of ARB: subretinal deposits, extensive subretinal fluid, and cystoid macular edema (CME). However, the other 2 patients with severe retinal degeneration lacked these features. Focal choroidal excavations were present bilaterally in 2 patients. One case had a marked reduction of the CME and expansion of subretinal deposits over an 8-year of follow-up period. Conclusions: Japanese ARB patients had some but not all of the previously described features. Genetic analyses are essential to diagnose ARB correctly in consequence of considerable phenotypic variations.
言語 en
内容記述タイプ Abstract
出版者
言語 en
出版者 Elsevier
言語
言語 eng
資源タイプ
資源タイプresource http://purl.org/coar/resource_type/c_6501
タイプ journal article
出版タイプ
出版タイプ AM
出版タイプResource http://purl.org/coar/version/c_ab4af688f83e57aa
DOI
関連タイプ isVersionOf
識別子タイプ DOI
関連識別子 https://doi.org/10.1016/j.ajo.2016.04.023
ISSN
収録物識別子タイプ PISSN
収録物識別子 0002-9394
書誌情報 en : American Journal of Ophthalmology

巻 168, p. 86-94, 発行日 2016-08
著者版フラグ
値 author
URI
識別子 http://doi.org/10.1016/j.ajo.2016.04.023
識別子タイプ DOI
URI
識別子 http://hdl.handle.net/2237/25097
識別子タイプ HDL
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