{"_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": []}, "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": "\u66f8\u8a8c\u60c5\u5831", "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": "\u6284\u9332", "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\u003eC (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": "\u51fa\u7248\u8005", "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": "\u6a29\u5229", "attribute_value_mlt": [{"subitem_rights": "\u00a9 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": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "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": "\u51fa\u7248\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_ab4af688f83e57aa", "subitem_version_type": "AM"}]}, "item_access_right": {"attribute_name": "\u30a2\u30af\u30bb\u30b9\u6a29", "attribute_value_mlt": [{"subitem_access_right": "open access", "subitem_access_right_uri": "http://purl.org/coar/access_right/c_abf2"}]}, "item_creator": {"attribute_name": "\u8457\u8005", "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": 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Autosomal Recessive Bestrophinopathy in Japanese Cohort", "subitem_title_language": "en"}]}, "item_type_id": "10", "owner": "1", "path": ["499/500/501"], "permalink_uri": "http://hdl.handle.net/2237/25097", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2016-11-24"}, "publish_date": "2016-11-24", "publish_status": "0", "recid": "22917", "relation": {}, "relation_version_is_last": true, "title": ["Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort"], "weko_shared_id": -1}