{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:38:46Z","timestamp":1780353526891,"version":"3.54.1"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T00:00:00Z","timestamp":1644451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>The purpose of the study was to evaluate vision\u2010related quality of life and visual ability in patients with <jats:italic>OPA1<\/jats:italic> autosomal dominant optic atrophy (ADOA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This cross\u2010sectional, observational study included 145 participants with a mutation in the <jats:italic>OPA1<\/jats:italic> gene associated with ADOA, 63 mutation\u2010free first\u2010degree relatives and 92 healthy subjects unrelated to the families. Participants underwent a clinical eye examination, and adult participants completed the National Eye Institute Visual Function Questionnaire (NEI\u2010VFQ\u201039), while children completed the Cardiff Visual Ability Questionnaire for Children (CVAQC).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In adults with ADOA, both mean visual acuity (VA) and mean contrast sensitivity (CS) were significantly inferior to both first\u2010degree relatives and unrelated controls (p\u2009&lt;\u20090.001). In children with ADOA, mean VA was significantly lower compared with first\u2010degree relatives (p\u2009=\u20090.0052), whereas CS was not (0.127). Adults with ADOA scored lower than both comparator groups on composite score (p\u2009&lt;\u20090.001), general health subscale (p\u2009=\u20090.0075) and all vision\u2010related subscales (p\u2009&lt;\u20090.001) except the ocular pain subscale (p\u2009=\u20090.2). In children with ADOA, the median CVAQC logit score was significantly lower compared with first\u2010degree relatives (p\u2009=\u20090.037). The science lessons subscale was significantly lower for children with ADOA compared with first\u2010degree relatives (p\u2009=\u20090.046), as well as the language lessons subscale (p\u2009=\u20090.038). For adults, composite score and subscale scores were significantly associated with both VA, CS and fixation status.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>OPA1<\/jats:italic> mutation is associated with lower quality of life and visual ability in patients with ADOA compared with both first\u2010degree relatives and unrelated controls. VA, CS and fixation status affect quality of life in patients with ADOA.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.15102","type":"journal-article","created":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T07:53:29Z","timestamp":1644566009000},"page":"797-804","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Vision\u2010related quality of life and visual ability in patients with autosomal dominant optic atrophy"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0272-2192","authenticated-orcid":false,"given":"Christina","family":"Eckmann\u2010Hansen","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Rigshospitalet  Glostrup Denmark"},{"name":"Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0409-2534","authenticated-orcid":false,"given":"Toke","family":"Bek","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Sander","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Rigshospitalet  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Rigshospitalet  Glostrup Denmark"},{"name":"Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2018.12.023"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2009.04.012"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000435886"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2017.02.024"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2018.01.015"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(82)90197-0"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2007.127092"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.14403"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2009.171181"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-3166"},{"key":"e_1_2_6_12_1","doi-asserted-by":"crossref","unstructured":"KjerB EibergH KjerP&RosenbergT(1996):Dominant optic arophy mapped to chromosome 3q region.pdf.74:3\u20107.","DOI":"10.1111\/j.1600-0420.1996.tb00672.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-46"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.5301\/ejo.5000972"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/IJG.0000000000000225"},{"key":"e_1_2_6_16_1","volume-title":"RStudio: Integrated Development for R. RStudio","author":"RStudio Team","year":"2019"},{"key":"e_1_2_6_17_1","first-page":"643","article-title":"Visual acuity and contrast sensitivity are two important factors affecting vision\u2010related quality of life in advanced age\u2010related macular degeneration","volume":"13","author":"Roh M","year":"2018","journal-title":"Investig Ophthalmol Vis Sci"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12835"},{"key":"e_1_2_6_19_1","first-page":"1","article-title":"Effectiveness of low vision rehabilitation using microperimetric acoustic biofeedback training in patients with central scotoma","volume":"46","author":"Sahli E","year":"2020","journal-title":"Curr Eye Res"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10384-011-0080-9"},{"key":"e_1_2_6_21_1","first-page":"A4290","article-title":"Danish version of visual function questionnaire\u201025 and its use in age\u2010related macular degeneration","volume":"58","author":"S\u00f8rensen MS","year":"2011","journal-title":"Dan Med Bull"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2016.323"}],"container-title":["Acta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aos.15102","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/aos.15102","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aos.15102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T13:03:45Z","timestamp":1692536625000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/aos.15102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,10]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1111\/aos.15102"],"URL":"https:\/\/doi.org\/10.1111\/aos.15102","archive":["Portico"],"relation":{},"ISSN":["1755-375X","1755-3768"],"issn-type":[{"value":"1755-375X","type":"print"},{"value":"1755-3768","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,10]]},"assertion":[{"value":"2021-05-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}