{"id":"https://openalex.org/W4400860950","doi":"https://doi.org/10.1097/md.0000000000038853","title":"Multimodal imaging analysis of autosomal recessive bestrophinopathy: Case series","display_name":"Multimodal imaging analysis of autosomal recessive bestrophinopathy: Case series","publication_year":2024,"publication_date":"2024-07-19","ids":{"openalex":"https://openalex.org/W4400860950","doi":"https://doi.org/10.1097/md.0000000000038853","pmid":"https://pubmed.ncbi.nlm.nih.gov/39029076","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11398800"},"language":"en","primary_location":{"id":"doi:10.1097/md.0000000000038853","doi":"https://doi.org/10.1097/md.0000000000038853","is_oa":true,"landing_page_url":"https://doi.org/10.1097/md.0000000000038853","pdf_url":null,"source":{"id":"https://openalex.org/S28966261","display_name":"Medicine","issn_l":"0025-7974","issn":["0025-7974","1536-5964"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1097/md.0000000000038853","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5011163777","display_name":"Masahiro Miura","orcid":"https://orcid.org/0000-0001-8698-6947","observed_orcids":["https://orcid.org/0000-0001-8698-6947"]},"institutions":[{"id":"https://openalex.org/I158929114","display_name":"Tokyo Medical University","ror":"https://ror.org/00k5j5c86","country_code":"JP","type":"education","lineage":["https://openalex.org/I158929114"]},{"id":"https://openalex.org/I4210135408","display_name":"Tokyo Medical University Ibaraki Medical Center","ror":"https://ror.org/031hmx230","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210135408"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Masahiro Miura","raw_affiliation_strings":["Department of Ophthalmology, Tokyo Medical University, Ibaraki Medical Center, Inashiki, Ibaraki, Japan","Masahiro Miura, Department of Ophthalmology, Tokyo Medical University, Ibaraki Medical Center, 3-20-1 Chuo, Ami, Inashiki, Ibaraki 300395, Japan (e-mail"],"raw_orcid":"https://orcid.org/0000-0001-8698-6947","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Tokyo Medical University, Ibaraki Medical Center, Inashiki, Ibaraki, Japan","institution_ids":["https://openalex.org/I158929114","https://openalex.org/I4210135408"]},{"raw_affiliation_string":"Masahiro Miura, Department of Ophthalmology, Tokyo Medical University, Ibaraki Medical Center, 3-20-1 Chuo, Ami, Inashiki, Ibaraki 300395, Japan (e-mail","institution_ids":["https://openalex.org/I158929114","https://openalex.org/I4210135408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062586878","display_name":"Shuichi Makita","orcid":"https://orcid.org/0000-0002-6614-3640","observed_orcids":["https://orcid.org/0000-0002-6614-3640"]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I158929114","display_name":"Tokyo Medical University","ror":"https://ror.org/00k5j5c86","country_code":"JP","type":"education","lineage":["https://openalex.org/I158929114"]},{"id":"https://openalex.org/I4210135408","display_name":"Tokyo Medical University Ibaraki Medical Center","ror":"https://ror.org/031hmx230","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210135408"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shuichi Makita","raw_affiliation_strings":["Computational Optics Group, University of Tsukuba, Tsukuba, Ibaraki, Japan","Department of Ophthalmology, Tokyo Medical University, Ibaraki Medical Center, Inashiki, Ibaraki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Optics Group, University of Tsukuba, Tsukuba, Ibaraki, Japan","institution_ids":["https://openalex.org/I146399215"]},{"raw_affiliation_string":"Department of Ophthalmology, Tokyo Medical University, Ibaraki Medical Center, Inashiki, Ibaraki, Japan","institution_ids":["https://openalex.org/I158929114","https://openalex.org/I4210135408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021546883","display_name":"Yoshiaki Yasuno","orcid":"https://orcid.org/0000-0003-1645-7948","observed_orcids":["https://orcid.org/0000-0003-1645-7948"]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I158929114","display_name":"Tokyo Medical University","ror":"https://ror.org/00k5j5c86","country_code":"JP","type":"education","lineage":["https://openalex.org/I158929114"]},{"id":"https://openalex.org/I4210135408","display_name":"Tokyo Medical University Ibaraki Medical Center","ror":"https://ror.org/031hmx230","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210135408"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshiaki Yasuno","raw_affiliation_strings":["Computational Optics Group, University of Tsukuba, Tsukuba, Ibaraki, Japan","Department of Ophthalmology, Tokyo Medical University, Ibaraki Medical Center, Inashiki, Ibaraki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Optics Group, University of Tsukuba, Tsukuba, Ibaraki, Japan","institution_ids":["https://openalex.org/I146399215"]},{"raw_affiliation_string":"Department of Ophthalmology, Tokyo Medical University, Ibaraki Medical Center, Inashiki, Ibaraki, Japan","institution_ids":["https://openalex.org/I158929114","https://openalex.org/I4210135408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068769418","display_name":"Shinnosuke Azuma","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210139383","display_name":"Topcon (Japan)","ror":"https://ror.org/03fevzd03","country_code":"JP","type":"company","lineage":["https://openalex.org/I4210139383"]},{"id":"https://openalex.org/I4405264368","display_name":"Topcon Corporation (Japan)","ror":"https://ror.org/01qktm695","country_code":"JP","type":"company","lineage":["https://openalex.org/I4405264368"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shinnosuke Azuma","raw_affiliation_strings":["Topcon Corporation, Itabashi, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Topcon Corporation, Itabashi, Tokyo, Japan","institution_ids":["https://openalex.org/I4210139383","https://openalex.org/I4405264368"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112655660","display_name":"Toshihiro Mino","orcid":"https://orcid.org/0000-0001-9913-3265","observed_orcids":["https://orcid.org/0000-0001-9913-3265"]},"institutions":[{"id":"https://openalex.org/I4210139383","display_name":"Topcon (Japan)","ror":"https://ror.org/03fevzd03","country_code":"JP","type":"company","lineage":["https://openalex.org/I4210139383"]},{"id":"https://openalex.org/I4405264368","display_name":"Topcon Corporation (Japan)","ror":"https://ror.org/01qktm695","country_code":"JP","type":"company","lineage":["https://openalex.org/I4405264368"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Toshihiro Mino","raw_affiliation_strings":["Topcon Corporation, Itabashi, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Topcon Corporation, Itabashi, Tokyo, Japan","institution_ids":["https://openalex.org/I4210139383","https://openalex.org/I4405264368"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059433035","display_name":"Takaaki Hayashi","orcid":"https://orcid.org/0000-0002-1535-0279","observed_orcids":["https://orcid.org/0000-0002-1535-0279"]},"institutions":[{"id":"https://openalex.org/I115498069","display_name":"Jikei University School of Medicine","ror":"https://ror.org/039ygjf22","country_code":"JP","type":"education","lineage":["https://openalex.org/I115498069"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takaaki Hayashi","raw_affiliation_strings":["Department of Ophthalmology, The Jikei University School of Medicine, Minato, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, The Jikei University School of Medicine, Minato, Tokyo, Japan","institution_ids":["https://openalex.org/I115498069"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005197742","display_name":"Shuhei Kameya","orcid":"https://orcid.org/0000-0003-3962-3099","observed_orcids":["https://orcid.org/0000-0003-3962-3099"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shuhei Kameya","raw_affiliation_strings":["Kameya Eye Clinic, Inzai, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kameya Eye Clinic, Inzai, Chiba, Japan","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5077351334","display_name":"Kazushige Tsunoda","orcid":"https://orcid.org/0000-0002-7875-342X","observed_orcids":["https://orcid.org/0000-0002-7875-342X","https://orcid.org/0009-0001-4913-1277"]},"institutions":[{"id":"https://openalex.org/I4210094747","display_name":"Tokyo Medical Center","ror":"https://ror.org/005xkwy83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210094747","https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kazushige Tsunoda","raw_affiliation_strings":["Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro, Tokyo, Japan","institution_ids":["https://openalex.org/I4210094747"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5011163777"],"corresponding_institution_ids":["https://openalex.org/I158929114","https://openalex.org/I4210135408"],"apc_list":{"value":1950,"currency":"USD","value_usd":1950},"apc_paid":{"value":1950,"currency":"USD","value_usd":1950},"fwci":0.696,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.62585809,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"103","issue":"29","first_page":"e38853","last_page":"e38853"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.5029000043869019,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.5029000043869019,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10170","display_name":"Retinal Diseases and Treatments","score":0.4790000021457672,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11194","display_name":"Ocular Diseases and Beh\u00e7et\u2019s Syndrome","score":0.0032999999821186066,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/autosomal-recessive-bestrophinopathy","display_name":"autosomal recessive bestrophinopathy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/best1-gene","display_name":"BEST1 gene","score":0.8349999785423279},{"id":"https://openalex.org/keywords/retinal-pigment-epithelium","display_name":"retinal pigment epithelium","score":0.9259999990463257},{"id":"https://openalex.org/keywords/near-infrared-autofluorescence","display_name":"near-infrared autofluorescence","score":0.8640000224113464},{"id":"https://openalex.org/keywords/polarization-sensitive-optical-coherence-tomography","display_name":"polarization-sensitive optical coherence tomography","score":0.9929999709129333},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8820000290870667},{"id":"https://openalex.org/keywords/best-vitelliform-macular-dystrophy","display_name":"Best vitelliform macular dystrophy","score":0.9480000138282776},{"id":"https://openalex.org/keywords/macular-lesions","display_name":"macular lesions","score":0.45399999618530273},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.3269999921321869}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8225175142288208},{"id":"https://openalex.org/C2778024200","wikidata":"https://www.wikidata.org/wiki/Q2346242","display_name":"Retinal pigment epithelium","level":3,"score":0.761094331741333},{"id":"https://openalex.org/C2778818243","wikidata":"https://www.wikidata.org/wiki/Q899552","display_name":"Optical coherence tomography","level":2,"score":0.5571227669715881},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.555639386177063},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.5170455574989319},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4854453206062317},{"id":"https://openalex.org/C2781156865","wikidata":"https://www.wikidata.org/wiki/Q827023","display_name":"Lesion","level":2,"score":0.41507434844970703},{"id":"https://openalex.org/C107538193","wikidata":"https://www.wikidata.org/wiki/Q187526","display_name":"Melanin","level":2,"score":0.414895623922348},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.37799060344696045},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3424379527568817},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22611728310585022},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14458978176116943},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.09009197354316711}],"mesh":[{"descriptor_ui":"D000075002","descriptor_name":"Bestrophins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015785","descriptor_name":"Eye Diseases, Hereditary","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D015785","descriptor_name":"Eye Diseases, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035781","descriptor_name":"Siblings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D041623","descriptor_name":"Tomography, Optical Coherence","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D055213","descriptor_name":"Retinal Pigment Epithelium","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D055213","descriptor_name":"Retinal Pigment Epithelium","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061848","descriptor_name":"Optical Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D064847","descriptor_name":"Multimodal Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1097/md.0000000000038853","doi":"https://doi.org/10.1097/md.0000000000038853","is_oa":true,"landing_page_url":"https://doi.org/10.1097/md.0000000000038853","pdf_url":null,"source":{"id":"https://openalex.org/S28966261","display_name":"Medicine","issn_l":"0025-7974","issn":["0025-7974","1536-5964"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11398800","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11398800","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11398800/pdf/medi-103-e38853.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medicine (Baltimore)","raw_type":"Text"},{"id":"pmid:39029076","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39029076","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medicine","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1097/md.0000000000038853","doi":"https://doi.org/10.1097/md.0000000000038853","is_oa":true,"landing_page_url":"https://doi.org/10.1097/md.0000000000038853","pdf_url":null,"source":{"id":"https://openalex.org/S28966261","display_name":"Medicine","issn_l":"0025-7974","issn":["0025-7974","1536-5964"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G2263069758","display_name":"Clinical evaluation of chorioretinal melanin distribution in macular disease with multi-contrast optical coherence tomography.","funder_award_id":"21K09684","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G7612625042","display_name":"Establishment of a Comprehensive Quantitative Diagnostic Technique for Retinal Pigment Epithelium Abnormalities and Retinal Edema in Macular Diseases","funder_award_id":"24K12753","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320322516","display_name":"Santen","ror":"https://ror.org/032msy923"},{"id":"https://openalex.org/F4320323024","display_name":"Astellas Pharma","ror":"https://ror.org/01cjash87"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4400860950.pdf","grobid_xml":"https://content.openalex.org/works/W4400860950.grobid-xml"},"referenced_works_count":31,"referenced_works":["https://openalex.org/W1599897764","https://openalex.org/W1968076268","https://openalex.org/W1974626059","https://openalex.org/W2004483683","https://openalex.org/W2026786897","https://openalex.org/W2029913901","https://openalex.org/W2053074954","https://openalex.org/W2059022308","https://openalex.org/W2062176231","https://openalex.org/W2097664895","https://openalex.org/W2098045398","https://openalex.org/W2124455112","https://openalex.org/W2138384280","https://openalex.org/W2141973292","https://openalex.org/W2345933504","https://openalex.org/W2590975404","https://openalex.org/W2624017490","https://openalex.org/W2757415320","https://openalex.org/W2765111226","https://openalex.org/W2766820003","https://openalex.org/W2771489246","https://openalex.org/W2792615945","https://openalex.org/W2888633525","https://openalex.org/W2980237094","https://openalex.org/W3147091644","https://openalex.org/W3165400789","https://openalex.org/W4283791999","https://openalex.org/W4297177148","https://openalex.org/W4365135580","https://openalex.org/W4378172801","https://openalex.org/W6921859659"],"related_works":["https://openalex.org/W4393061542","https://openalex.org/W2998079412","https://openalex.org/W3112627872","https://openalex.org/W2404299660","https://openalex.org/W2104851033","https://openalex.org/W3011623704","https://openalex.org/W2081567643","https://openalex.org/W2792495603","https://openalex.org/W4396529059","https://openalex.org/W3159160605"],"abstract_inverted_index":{"RATIONALE:":[0],"Autosomal":[1],"recessive":[2],"bestrophinopathy":[3,9],"(ARB)":[4],"is":[5,30],"a":[6],"subtype":[7],"of":[8,14,41,98,134,147,182,234],"caused":[10],"by":[11],"biallelic":[12],"mutations":[13,97],"the":[15,20,39,99,131,140,148,197,204,230],"BEST1":[16,100],"gene,":[17],"which":[18],"affect":[19],"retinal":[21],"pigment":[22],"epithelium":[23],"(RPE).":[24],"Studying":[25],"RPE":[26,68,119,165,185,212,215,220,226,235,253],"abnormalities":[27,221],"through":[28],"imaging":[29,43,48,113,144,189,195],"essential":[31],"for":[32,84,91],"understanding":[33],"ARB.":[34,74,108,256],"This":[35,238],"case":[36,239],"series":[37,240],"involved":[38],"use":[40],"multimodal":[42,243],"techniques,":[44],"namely":[45],"autofluorescence":[46],"(AF)":[47],"at":[49,196],"488":[50],"nm":[51,56],"[short-wavelength":[52],"AF]":[53],"and":[54,60,155,190,247],"785":[55],"[near-infrared":[57],"AF":[58,194],"(NIR-AF)]":[59],"polarization-sensitive":[61],"optical":[62],"coherence":[63],"tomography":[64],"(PS-OCT),":[65],"to":[66,117,127],"investigate":[67],"changes":[69,125],"in":[70,130,152,168,222,229,255],"2":[71],"siblings":[72,79,104,122],"with":[73,107],"PATIENT":[75],"CONCERNS:":[76],"Two":[77],"Japanese":[78],"(Case":[80],"1:":[81],"male,":[82],"followed":[83,90],"20-23":[85],"years;":[86],"Case":[87],"2:":[88],"female,":[89],"13-17":[92],"years)":[93],"carried":[94],"compound":[95],"heterozygous":[96],"gene.":[101],"DIAGNOSIS:":[102],"Both":[103,121],"were":[105,115,175],"diagnosed":[106],"INTERVENTIONS":[109],"AND":[110],"OUTCOMES:":[111],"Multimodal":[112],"techniques":[114],"used":[116],"evaluate":[118],"changes.":[120,237],"had":[123,207],"funduscopic":[124],"similar":[126],"those":[128],"seen":[129],"vitelliruptive":[132],"stage":[133],"Best":[135],"vitelliform":[136],"macular":[137,150],"dystrophy":[138],"during":[139],"follow-up":[141],"period.":[142],"NIR-AF":[143,246],"showed":[145],"hypo-AF":[146,157,170],"entire":[149],"lesion":[151],"both":[153],"cases,":[154],"this":[156],"remained":[158],"stable":[159],"over":[160],"time.":[161],"PS-OCT":[162,188],"confirmed":[163,219],"reduced":[164],"melanin":[166,186,227],"content":[167],"these":[169],"areas.":[171,179],"Additionally,":[172],"hyper-NIR-AF":[173,200,205],"dots":[174,201,206],"observed":[176],"within":[177],"hypo-NIR-AF":[178],"Concomitant":[180],"identification":[181],"focally":[183],"thickened":[184],"on":[187,192],"hyper-AF":[191],"short-wavelength":[193],"sites":[198],"containing":[199],"indicated":[202],"that":[203,242],"originated":[208],"from":[209],"either":[210],"stacked":[211],"cells":[213],"or":[214],"dysmorphia.":[216],"LESSONS:":[217],"We":[218],"ARB,":[223],"including":[224],"diffuse":[225],"damage":[228],"macula":[231],"alongside":[232],"evidence":[233],"activity-related":[236],"demonstrates":[241],"imaging,":[244],"particularly":[245],"PS-OCT,":[248],"provides":[249],"detailed":[250],"insights":[251],"into":[252],"alterations":[254]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-07-21T00:00:00"}
