{"id":"https://openalex.org/W4417469448","doi":"https://doi.org/10.1097/wno.0000000000002428","title":"Optic Atrophy Predominant WFS1 Disorder\u2014A Case\u2013Control Study","display_name":"Optic Atrophy Predominant WFS1 Disorder\u2014A Case\u2013Control Study","publication_year":2025,"publication_date":"2025-12-18","ids":{"openalex":"https://openalex.org/W4417469448","doi":"https://doi.org/10.1097/wno.0000000000002428","pmid":"https://pubmed.ncbi.nlm.nih.gov/41411089"},"language":"en","primary_location":{"id":"doi:10.1097/wno.0000000000002428","doi":"https://doi.org/10.1097/wno.0000000000002428","is_oa":false,"landing_page_url":"https://doi.org/10.1097/wno.0000000000002428","pdf_url":null,"source":{"id":"https://openalex.org/S195816289","display_name":"Journal of Neuro-Ophthalmology","issn_l":"1070-8022","issn":["1070-8022","1536-5166"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neuro-Ophthalmology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5052575717","display_name":"Nicholas R. Levergood","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I255400825","display_name":"Indiana University Hospital","ror":"https://ror.org/05rbkcx47","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1283055418","https://openalex.org/I255400825","https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Nicholas R. Levergood","raw_affiliation_strings":["Departments of Ophthalmology (NRL, MWK, DDM), Neurology (MWK, KKP, DDM), Neurosurgery (MWK, DDM), and Medical and Molecular Genetics (KKP), Indiana University School of Medicine, Indianapolis, Indiana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Ophthalmology (NRL, MWK, DDM), Neurology (MWK, KKP, DDM), Neurosurgery (MWK, DDM), and Medical and Molecular Genetics (KKP), Indiana University School of Medicine, Indianapolis, Indiana","institution_ids":["https://openalex.org/I255400825","https://openalex.org/I4388446366","https://openalex.org/I4394709130","https://openalex.org/I55769427"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070176369","display_name":"Melissa W. Ko","orcid":"https://orcid.org/0000-0002-2452-9684","observed_orcids":["https://orcid.org/0000-0002-2452-9684"]},"institutions":[{"id":"https://openalex.org/I255400825","display_name":"Indiana University Hospital","ror":"https://ror.org/05rbkcx47","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1283055418","https://openalex.org/I255400825","https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melissa W. Ko","raw_affiliation_strings":["Departments of Ophthalmology (NRL, MWK, DDM), Neurology (MWK, KKP, DDM), Neurosurgery (MWK, DDM), and Medical and Molecular Genetics (KKP), Indiana University School of Medicine, Indianapolis, Indiana","Some results of this study were presented as a preliminary case series at the Upper Midwest Neuro-Ophthalmology Group Annual Meeting on July 26, 2024, in Chicago, IL. The results were also presented at the North American Neuro-Ophthalmology Society 51st Annual Meeting on March 17, 2025, in Tucson, AZ","Statement of Ethics Collection and evaluation of protected patient health information were HIPAA compliant. This report adhered to the ethical principles outlined in the Declaration of Helsinki as amended in 2013. This retrospective review of patient data was granted exempt status by our institutional review board"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Ophthalmology (NRL, MWK, DDM), Neurology (MWK, KKP, DDM), Neurosurgery (MWK, DDM), and Medical and Molecular Genetics (KKP), Indiana University School of Medicine, Indianapolis, Indiana","institution_ids":["https://openalex.org/I255400825","https://openalex.org/I4388446366","https://openalex.org/I4394709130","https://openalex.org/I55769427"]},{"raw_affiliation_string":"Some results of this study were presented as a preliminary case series at the Upper Midwest Neuro-Ophthalmology Group Annual Meeting on July 26, 2024, in Chicago, IL. The results were also presented at the North American Neuro-Ophthalmology Society 51st Annual Meeting on March 17, 2025, in Tucson, AZ","institution_ids":[]},{"raw_affiliation_string":"Statement of Ethics Collection and evaluation of protected patient health information were HIPAA compliant. This report adhered to the ethical principles outlined in the Declaration of Helsinki as amended in 2013. This retrospective review of patient data was granted exempt status by our institutional review board","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104173065","display_name":"Katelyn K. Payne","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I255400825","display_name":"Indiana University Hospital","ror":"https://ror.org/05rbkcx47","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1283055418","https://openalex.org/I255400825","https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Katelyn K. Payne","raw_affiliation_strings":["Departments of Ophthalmology (NRL, MWK, DDM), Neurology (MWK, KKP, DDM), Neurosurgery (MWK, DDM), and Medical and Molecular Genetics (KKP), Indiana University School of Medicine, Indianapolis, Indiana","Some results of this study were presented as a preliminary case series at the Upper Midwest Neuro-Ophthalmology Group Annual Meeting on July 26, 2024, in Chicago, IL. The results were also presented at the North American Neuro-Ophthalmology Society 51st Annual Meeting on March 17, 2025, in Tucson, AZ","Statement of Ethics Collection and evaluation of protected patient health information were HIPAA compliant. This report adhered to the ethical principles outlined in the Declaration of Helsinki as amended in 2013. This retrospective review of patient data was granted exempt status by our institutional review board"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Ophthalmology (NRL, MWK, DDM), Neurology (MWK, KKP, DDM), Neurosurgery (MWK, DDM), and Medical and Molecular Genetics (KKP), Indiana University School of Medicine, Indianapolis, Indiana","institution_ids":["https://openalex.org/I255400825","https://openalex.org/I4388446366","https://openalex.org/I4394709130","https://openalex.org/I55769427"]},{"raw_affiliation_string":"Some results of this study were presented as a preliminary case series at the Upper Midwest Neuro-Ophthalmology Group Annual Meeting on July 26, 2024, in Chicago, IL. The results were also presented at the North American Neuro-Ophthalmology Society 51st Annual Meeting on March 17, 2025, in Tucson, AZ","institution_ids":[]},{"raw_affiliation_string":"Statement of Ethics Collection and evaluation of protected patient health information were HIPAA compliant. This report adhered to the ethical principles outlined in the Declaration of Helsinki as amended in 2013. This retrospective review of patient data was granted exempt status by our institutional review board","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5048495656","display_name":"Devin D. Mackay","orcid":"https://orcid.org/0000-0002-6045-2565","observed_orcids":["https://orcid.org/0000-0002-6045-2565"]},"institutions":[{"id":"https://openalex.org/I255400825","display_name":"Indiana University Hospital","ror":"https://ror.org/05rbkcx47","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1283055418","https://openalex.org/I255400825","https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Devin D. Mackay","raw_affiliation_strings":["Departments of Ophthalmology (NRL, MWK, DDM), Neurology (MWK, KKP, DDM), Neurosurgery (MWK, DDM), and Medical and Molecular Genetics (KKP), Indiana University School of Medicine, Indianapolis, Indiana","Some results of this study were presented as a preliminary case series at the Upper Midwest Neuro-Ophthalmology Group Annual Meeting on July 26, 2024, in Chicago, IL. The results were also presented at the North American Neuro-Ophthalmology Society 51st Annual Meeting on March 17, 2025, in Tucson, AZ","Statement of Ethics Collection and evaluation of protected patient health information were HIPAA compliant. This report adhered to the ethical principles outlined in the Declaration of Helsinki as amended in 2013. This retrospective review of patient data was granted exempt status by our institutional review board"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Ophthalmology (NRL, MWK, DDM), Neurology (MWK, KKP, DDM), Neurosurgery (MWK, DDM), and Medical and Molecular Genetics (KKP), Indiana University School of Medicine, Indianapolis, Indiana","institution_ids":["https://openalex.org/I255400825","https://openalex.org/I4388446366","https://openalex.org/I4394709130","https://openalex.org/I55769427"]},{"raw_affiliation_string":"Some results of this study were presented as a preliminary case series at the Upper Midwest Neuro-Ophthalmology Group Annual Meeting on July 26, 2024, in Chicago, IL. The results were also presented at the North American Neuro-Ophthalmology Society 51st Annual Meeting on March 17, 2025, in Tucson, AZ","institution_ids":[]},{"raw_affiliation_string":"Statement of Ethics Collection and evaluation of protected patient health information were HIPAA compliant. This report adhered to the ethical principles outlined in the Declaration of Helsinki as amended in 2013. This retrospective review of patient data was granted exempt status by our institutional review board","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5052575717"],"corresponding_institution_ids":["https://openalex.org/I255400825","https://openalex.org/I4388446366","https://openalex.org/I4394709130","https://openalex.org/I55769427"],"apc_list":null,"apc_paid":null,"fwci":1.5114,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.83889933,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":97},"biblio":{"volume":"46","issue":"2","first_page":"188","last_page":"194"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.49410000443458557,"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/T10250","display_name":"Glaucoma and retinal disorders","score":0.49410000443458557,"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/T10691","display_name":"Retinal Development and Disorders","score":0.17499999701976776,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.1136000007390976,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/optic-atrophy","display_name":"optic atrophy","score":0.8399999737739563},{"id":"https://openalex.org/keywords/wfs1-gene","display_name":"WFS1 gene","score":0.6800000071525574},{"id":"https://openalex.org/keywords/autosomal-dominant-optic-atrophy","display_name":"autosomal dominant optic atrophy","score":0.8410000205039978},{"id":"https://openalex.org/keywords/leber-hereditary-optic-neuropathy","display_name":"Leber's hereditary optic neuropathy","score":0.9160000085830688},{"id":"https://openalex.org/keywords/opa1-mutations","display_name":"OPA1 mutations","score":0.9190000295639038},{"id":"https://openalex.org/keywords/polg-mutations","display_name":"POLG mutations","score":0.972000002861023},{"id":"https://openalex.org/keywords/visual-field-defects","display_name":"visual field defects","score":0.5699999928474426},{"id":"https://openalex.org/keywords/arcuate-scotoma","display_name":"arcuate scotoma","score":0.8560000061988831},{"id":"https://openalex.org/keywords/retinal-nerve-fiber-layer-thinning","display_name":"retinal nerve fiber layer thinning","score":0.796999990940094},{"id":"https://openalex.org/keywords/ganglion-cell-complex","display_name":"ganglion cell complex","score":0.8840000033378601},{"id":"https://openalex.org/keywords/visual-acuity","display_name":"visual acuity","score":0.6320000290870667}],"concepts":[{"id":"https://openalex.org/C2776756211","wikidata":"https://www.wikidata.org/wiki/Q1153641","display_name":"Wolfram syndrome","level":3,"score":0.9212999939918518},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.5931000113487244},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5860000252723694},{"id":"https://openalex.org/C2778257484","wikidata":"https://www.wikidata.org/wiki/Q555066","display_name":"Visual acuity","level":2,"score":0.48190000653266907},{"id":"https://openalex.org/C2776058522","wikidata":"https://www.wikidata.org/wiki/Q2364768","display_name":"Visual field","level":2,"score":0.4198000133037567},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.3774000108242035},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.35530000925064087},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.34389999508857727},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.32850000262260437},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32760000228881836},{"id":"https://openalex.org/C2776401178","wikidata":"https://www.wikidata.org/wiki/Q12050496","display_name":"Feature (linguistics)","level":2,"score":0.29760000109672546},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.29739999771118164},{"id":"https://openalex.org/C2776148792","wikidata":"https://www.wikidata.org/wiki/Q3041498","display_name":"Eye disease","level":2,"score":0.2720000147819519},{"id":"https://openalex.org/C119088629","wikidata":"https://www.wikidata.org/wiki/Q558363","display_name":"Visual system","level":3,"score":0.26510000228881836},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2547000050544739}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","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":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009896","descriptor_name":"Optic Atrophy","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009896","descriptor_name":"Optic Atrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009896","descriptor_name":"Optic Atrophy","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012165","descriptor_name":"Retinal Ganglion Cells","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014792","descriptor_name":"Visual Acuity","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D014794","descriptor_name":"Visual Fields","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D014929","descriptor_name":"Wolfram Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014929","descriptor_name":"Wolfram Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D014929","descriptor_name":"Wolfram Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014929","descriptor_name":"Wolfram Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D041623","descriptor_name":"Tomography, Optical Coherence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1097/wno.0000000000002428","doi":"https://doi.org/10.1097/wno.0000000000002428","is_oa":false,"landing_page_url":"https://doi.org/10.1097/wno.0000000000002428","pdf_url":null,"source":{"id":"https://openalex.org/S195816289","display_name":"Journal of Neuro-Ophthalmology","issn_l":"1070-8022","issn":["1070-8022","1536-5166"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neuro-Ophthalmology","raw_type":"journal-article"},{"id":"pmid:41411089","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41411089","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":"Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W2145183163","https://openalex.org/W2161968649","https://openalex.org/W2258756065","https://openalex.org/W2462842672","https://openalex.org/W2481823524","https://openalex.org/W2606193794","https://openalex.org/W2749872361","https://openalex.org/W2792730869","https://openalex.org/W2897998641","https://openalex.org/W2936990506","https://openalex.org/W2965972908","https://openalex.org/W3010667279","https://openalex.org/W4210826800","https://openalex.org/W4400863348","https://openalex.org/W4402468654"],"related_works":[],"abstract_inverted_index":{"BACKGROUND:":[0],"Wolfram":[1,459],"syndrome":[2,460],"type":[3],"1":[4],"(WS1),":[5],"or":[6,32,133,326],"\"DIDMOAD\"":[7],"(diabetes":[8],"insipidus,":[9],"diabetes":[10],"mellitus,":[11],"optic":[12,127,296],"atrophy":[13,297],"(OA),":[14],"and":[15,51,69,153,168,176,181,237,241,259,289,304,348,363,402,418,441],"deafness,":[16],"OMIM":[17],"#222300),":[18],"is":[19,49,376],"a":[20,369,427],"rare":[21,50],"neurodegenerative":[22],"disorder":[23],"resulting":[24],"from":[25,93,136,196],"homozygous,":[26],"compound":[27],"heterozygous":[28],"autosomal":[29,34],"recessive":[30],"(AR),":[31],"rarely":[33],"dominant":[35,295],"mutations":[36,109,123,293,375],"in":[37,47,110,202,250,345,378,430,453,461,469,481],"the":[38,232,242,324,333,346,381,436,448],"WFS1":[39,115,374],"gene.":[40],"Isolated":[41],"OA":[42,68,106,135,226,265,283,341,388],"with":[43,54,66,75,224,229,248,263,268,276,280,287,291,301,315,332,356,373,386,392,397,471],"adult-onset,":[44,464],"milder":[45,370,420],"phenotypes":[46],"WS1":[48,64,249,269,309,357,393,440],"typically":[52],"associated":[53,314,331],"biallelic":[55],"AR":[56],"mutations.":[57],"We":[58],"describe":[59],"7":[60],"patients":[61,88,228,286,290,355,391],"of":[62,72,87,150,156,160,257,319,323,339,354,414,439,451,463],"pauci-syndromic":[63],"presenting":[65,244],"adult-onset":[67],"compare":[70],"parameters":[71],"visual":[73,161,173,399,422],"function":[74,162],"other":[76,137,225,264,281,387,482],"OA-predominant":[77],"syndromes.":[78,266,484],"METHODS:":[79],"A":[80],"retrospective":[81],"review":[82],"was":[83,207,214,311,330],"performed":[84,208],"identifying":[85],"records":[86],"seen":[89,479],"at":[90],"our":[91,219,251],"institution":[92],"January":[94],"1,":[95],"2020,":[96],"through":[97],"December":[98],"31,":[99],"2024,":[100],"who":[101,146],"were":[102,144,163,200,270],"found":[103],"to":[104,108,274,380,446],"have":[105],"secondary":[107],"OPA1":[111,292],"(n":[112,116,120,130,140],"=":[113,117,121,131,141],"9),":[114],"7),":[118],"POLG":[119],"3),":[122],"causing":[124],"Leber":[125],"hereditary":[126],"neuropathy":[128],"(LHON)":[129],"17)":[132],"isolated":[134],"genetic":[138,282,483],"causes":[139,149,155],"7).":[142],"Patients":[143,247,267],"excluded":[145],"harbored":[147],"confounding":[148],"vision":[151,361,454],"loss":[152,362,424],"nongenetic":[154],"OA.":[157],"Clinical":[158],"data":[159],"recorded,":[164],"including":[165],"mean":[166],"deviations":[167],"foveal":[169,238],"sensitivities":[170],"on":[171,189,209,321],"automated":[172],"fields":[174],"(AVF),":[175],"ganglion":[177],"cell":[178],"complex":[179],"(GCC)":[180],"peripapillary":[182,335,406],"retinal":[183],"nerve":[184],"fiber":[185],"layer":[186],"(RNFL)":[187],"thickness":[188],"optical":[190],"coherence":[191],"tomography":[192],"(OCT).":[193],"Visual":[194],"acuities":[195],"initial":[197],"neuro-ophthalmology":[198],"consultation":[199],"recorded":[201],"logMAR":[203,245],"format.":[204],"Statistical":[205],"analysis":[206],"continuous":[210],"variables.":[211],"This":[212,409,433],"study":[213,447],"granted":[215],"exempt":[216],"status":[217],"by":[218],"institutional":[220],"IRB.":[221],"RESULTS:":[222],"Compared":[223,385],"syndromes,":[227,284,342,389],"LHON":[230,288],"had":[231,253],"most":[233,334,343],"severe":[234],"average":[235],"AVF":[236],"sensitivity":[239],"depressions":[240],"lowest":[243],"acuity.":[246],"cohort":[252,353],"significantly":[254,271,313,344],"later":[255],"onset":[256],"symptoms":[258],"delayed":[260],"presentation":[261],"compared":[262,279],"more":[272,477],"likely":[273],"present":[275],"arcuate":[277,398,472],"scotomas":[278,303],"while":[285],"(autosomal":[294],"[ADOA])":[298],"presented":[299],"commonly":[300,478],"central":[302,421],"blind":[305],"spot":[306],"enlargement,":[307],"respectively.":[308],"diagnosis":[310,329],"not":[312],"any":[316],"specific":[317],"pattern":[318],"thinning":[320,337],"OCT":[322],"RNFL":[325,336,407],"GCC.":[327],"ADOA":[328],"overall":[338],"all":[340],"superior":[347],"inferior":[349],"quadrants.":[350],"CONCLUSIONS:":[351],"Our":[352],"showed":[358,394],"uncharacteristically":[359],"mild":[360],"minimal":[364],"syndromic":[365],"features,":[366],"suggesting":[367],"that":[368,411],"alternative":[371],"phenotype":[372],"possible":[377],"contrast":[379],"traditional":[382],"DIDMOAD":[383],"syndrome.":[384],"these":[390],"significant":[395],"associations":[396],"field":[400,473],"defects":[401],"trends":[403],"toward":[404],"superior/inferior":[405],"thinning.":[408],"suggests":[410],"relative":[412],"preservation":[413],"papillomacular":[415],"bundle":[416],"fibers":[417],"thus":[419],"acuity":[423],"may":[425],"be":[426],"unifying":[428],"feature":[429],"their":[431],"phenotype.":[432],"series":[434],"expands":[435],"clinical":[437],"spectrum":[438],"should":[442,457],"encourage":[443],"further":[444],"work":[445],"pathogenic":[449],"role":[450],"wolframin":[452],"loss.":[455],"Clinicians":[456],"consider":[458],"cases":[462,470],"symmetric,":[465],"near-isolated":[466],"OA,":[467],"especially":[468],"defects,":[474],"which":[475],"are":[476],"than":[480]},"counts_by_year":[{"year":2026,"cited_by_count":2}],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2025-12-18T00:00:00"}
