{"created":"2021-03-01T06:31:43.704439+00:00","id":23843,"links":{},"metadata":{"_buckets":{"deposit":"ed38074e-1f0f-409a-8ef9-1c6ed713438c"},"_deposit":{"id":"23843","owners":[],"pid":{"revision_id":0,"type":"depid","value":"23843"},"status":"published"},"_oai":{"id":"oai:nagoya.repo.nii.ac.jp:00023843","sets":["499:500:501"]},"author_link":["70729","70730","70731","70732","70733","70734","70735","70736","70737","70738"],"item_10_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"98","bibliographicPageStart":"92","bibliographicVolumeNumber":"61","bibliographic_titles":[{"bibliographic_title":"Japanese Journal of Ophthalmology","bibliographic_titleLang":"en"}]}]},"item_10_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Purpose: The 2 most common causative genes for achromatopsia (ACHM) are CNGA3 and CNGB3; other genes including GNAT2 account for only a small portion of ACHM cases. The cone mosaics in eyes with CNGA3 and CNGB3 variants are severely disrupted; the cone mosaics in patients with GNAT2-associated ACHM; however, have been reported to show a contiguous pattern in adaptive optics (AO) retinal images. The purpose of this study was to analyze the cone mosaic of another case of GNAT2-associated ACHM. Patient and methods: The patient was a 17-year-old Japanese boy. Comprehensive ocular examinations including fundus photography, electroretinography (ERGs), optical coherence tomography (OCT), and whole-exome analysis were performed. The cone mosaic was recorded with a flood-illuminated AO fundus camera, and the cone density was compared with those of 10 normal control eyes. Results: The patient had the typical phenotype of ACHM, and a novel homozygous variant, c.730_743del, in GNAT2 was identified. The fundus did not show any specific abnormalities, and the OCT images showed the presence of the ellipsoid zone. The AO fundus image showed a clearly defined cone mosaic around the fovea. The cone density at 500 μm from the fovea was reduced by 15–30 % as compared with those of the normal eyes. Conclusions: This is the first description of a Japanese patient with ACHM with a novel GNAT2 variant. The eyes of this patient had a preserved cone structure with loss of function.","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/10.1007/s10384-016-0484-7"},{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/2237/26011"}]},"item_10_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Springer","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/10.1007/s10384-016-0484-7","subitem_relation_type_select":"DOI"}}]},"item_10_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"The final publication is available at Springer via http://doi.org/10.1007/s10384-016-0484-7","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":"0021-5155","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":"Ueno, Shinji","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"70729","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Nakanishi, Ayami","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"70730","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Kominami, Taro","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"70731","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Ito, Yasuki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"70732","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hayashi, Takaaki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"70733","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Yoshitake, Kazutoshi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"70734","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Kawamura, Yuichi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"70735","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Tsunoda, 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of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-01-16T04:13:51.064876+00:00"}