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Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort
http://hdl.handle.net/2237/25097
http://hdl.handle.net/2237/25097bee22200-f66a-4fb5-b1aa-533d69956fa1
名前 / ファイル | ライセンス | アクション |
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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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× Ueno, Shinji× Hayashi, Takaaki× Katagiri, Satoshi× Kominami, Taro× Ito, Yasuki× Gekka, Tamaki× Masuda, Yoichiro× Tsuneoka, Hiroshi× Shinoda, Kei× Hirakata, Akito× Inoue, Makoto× Fujinami, Kaoru× Tsunoda, Kazushige× Iwata, Takeshi× Terasaki, Hiroko |
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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 |
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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 |