{"created":"2021-03-01T06:30:43.476408+00:00","id":22917,"links":{},"metadata":{"_buckets":{"deposit":"a784ccbf-6f35-421e-ae38-bf04e56f4790"},"_deposit":{"id":"22917","owners":[],"pid":{"revision_id":0,"type":"depid","value":"22917"},"status":"published"},"_oai":{"id":"oai:nagoya.repo.nii.ac.jp:00022917","sets":["499:500:501"]},"author_link":["67468","67469","67470","67471","67472","67473","67474","67475","67476","67477","67478","67479","67480","67481","67482","67483"],"item_10_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2016-08","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"94","bibliographicPageStart":"86","bibliographicVolumeNumber":"168","bibliographic_titles":[{"bibliographic_title":"American Journal of Ophthalmology","bibliographic_titleLang":"en"}]}]},"item_10_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"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.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10_identifier_60":{"attribute_name":"URI","attribute_value_mlt":[{"subitem_identifier_type":"DOI","subitem_identifier_uri":"http://doi.org/10.1016/j.ajo.2016.04.023"},{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/2237/25097"}]},"item_10_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Elsevier","subitem_publisher_language":"en"}]},"item_10_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1016/j.ajo.2016.04.023","subitem_relation_type_select":"DOI"}}]},"item_10_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© 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/","subitem_rights_language":"en"}]},"item_10_select_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"author"}]},"item_10_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0002-9394","subitem_source_identifier_type":"PISSN"}]},"item_1615787544753":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Nakanishi, Ayami","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67468","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Ueno, Shinji","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67469","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hayashi, Takaaki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67470","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Katagiri, Satoshi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67471","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Kominami, Taro","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67472","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Ito, Yasuki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67473","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Gekka, Tamaki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67474","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Masuda, Yoichiro","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67475","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Tsuneoka, Hiroshi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67476","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Shinoda, Kei","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67477","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hirakata, Akito","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67478","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Inoue, Makoto","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67479","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Fujinami, Kaoru","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67480","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Tsunoda, Kazushige","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67481","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Iwata, Takeshi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67482","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Terasaki, Hiroko","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67483","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-08-01"}],"displaytype":"detail","filename":"AJOPHT_9731_edit_report_Redacted.pdf","filesize":[{"value":"501.2 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"AJOPHT_9731_edit_report_Redacted.pdf ファイル公開：2017/08/01","objectType":"fulltext","url":"https://nagoya.repo.nii.ac.jp/record/22917/files/AJOPHT_9731_edit_report_Redacted.pdf"},"version_id":"1c9c6e4e-3d6e-4d50-a248-5a0f5b550c23"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort","subitem_title_language":"en"}]},"item_type_id":"10","owner":"1","path":["501"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2016-11-24"},"publish_date":"2016-11-24","publish_status":"0","recid":"22917","relation_version_is_last":true,"title":["Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-01-16T04:12:33.398259+00:00"}