{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T12:00:44Z","timestamp":1777291244587,"version":"3.51.4"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T00:00:00Z","timestamp":1655164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81701126"],"award-info":[{"award-number":["81701126"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>We reported the case of a patient with Wilson's disease (WD) with acute-onset visual impairment and summarized previously reported cases to make physicians aware of the complicated clinical expressions of WD and improve diagnosis efficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The patient was recruited from the Second Affiliated Hospital of Zhejiang University School of Medicine. Clinical data, including cranial images, laboratory tests, and ophthalmic findings were obtained. The PubMed database was searched for published cases of WD with visual impairment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We reported a 22-year-old male who presented with hand tremor, personality change, and acute-onset binocular vision blurring. WD was considered to be closely correlated with neuropsychiatric and ocular involvements. After low-copper diet and regular copper-chelation therapy, the related symptoms improved compared to before. Six WD cases of optic neuropathy have been reported, including ours. The patients usually had neurological and\/or hepatic symptoms for a period without any treatment. All the reported cases manifested as acute episodes of visual changes, and the ocular manifestations improved after copper-chelation treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Excess copper accumulation may be a rare cause of visual impairment in patients with WD. While the etiology behind patients' acute-onset visual impairment remained uncertain, the possibility of WD should be considered through neuropsychiatric and hepatic symptoms, corneal K-F rings, decreased serum ceruloplasmin, and low likelihood or exclusion of other causes. Clinicians need to recognize this rare manifestation and give appropriate treatment to avoid misdiagnosis and unnecessary overtreatment.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2022.911882","type":"journal-article","created":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T05:46:07Z","timestamp":1655185567000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Acute-Onset Visual Impairment in Wilson's Disease: A Case Report and Literature Review"],"prefix":"10.3389","volume":"13","author":[{"given":"Zi-Wei","family":"Zheng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng-Hui","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuan-Bin","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi-Ying","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.jhep.2011.11.007","article-title":"EASL clinical practice guidelines: Wilson's disease","volume":"56","year":"2012","journal-title":"J Hepatol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"310","DOI":"10.3760\/cma.j.cn113694-20200826-00661","article-title":"Chinese guidelines for diagnosis and treatment of Wilson's disease 2021","year":"2021","journal-title":"Chin J Neurol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"S62","DOI":"10.21037\/atm.2019.03.30","article-title":"Clinical manifestations of Wilson disease in organs other than the liver and brain","volume":"7","author":"Dziezyc-Jaworska","year":"2019","journal-title":"Ann Transl Med."},{"key":"B4","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1016\/j.cgh.2020.05.044","article-title":"Role for biochemical assays and Kayser-Fleischer rings in diagnosis of Wilson's disease","volume":"19","author":"Dong","year":"2021","journal-title":"Clin Gastroenterol Hepatol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1007\/s13760-015-0566-1","article-title":"The sunflower cataract in Wilson's disease: pathognomonic sign or rare finding?","volume":"116","author":"Langwi\u0144ska-Wo\u015bko","year":"2016","journal-title":"Acta Neurol Belg."},{"key":"B6","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1212\/wnl.7.5.341","article-title":"The Kayser-Fleischer ring; a histochemical and electron microscope study","volume":"7","author":"Uzman","year":"1957","journal-title":"Neurology."},{"key":"B7","first-page":"409","article-title":"The ophthalmologic manifestations of Wilson's disease","volume":"52","author":"Wiebers","year":"1977","journal-title":"Mayo Clin Proc."},{"key":"B8","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1136\/practneurol-2014-001056","article-title":"Sunflower cataract: do not forget Wilson's disease","volume":"15","author":"Litwin","year":"2015","journal-title":"Pract Neurol."},{"key":"B9","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1055\/s-2007-971173","article-title":"Wilson's Disease","volume":"27","author":"Pfeiffer","year":"2007","journal-title":"Semin Neurol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"2089","DOI":"10.1002\/hep.22261","article-title":"American Association For Study Of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease","volume":"47","author":"Roberts","year":"2008","journal-title":"Update Hepatol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"638","DOI":"10.7150\/thno.14596","article-title":"Spectrum and Classification of ATP7B Variants in a large cohort of Chinese patients with Wilson's disease guides genetic diagnosis","volume":"6","author":"Dong","year":"2016","journal-title":"Theranostics."},{"key":"B12","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1111\/j.0954-6820.1922.tb18508.x","article-title":"Un syndrome singulier probablement appartenant au groupe de Wilson, pseudosclerose. Une sorte de cachexie pigmentaire avec opacite en ceinture de la cornee primitive et avec troubles nerveux ressemblant a la sclerose en plaques","volume":"56","author":"Soderbergh","year":"1922","journal-title":"Acta Med Scand"},{"key":"B13","first-page":"230","article-title":"Retinal changes in Wilson's disease","volume":"88","author":"Rossa","year":"1991","journal-title":"Fortschr Ophthalmol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1046\/j.1440-1746.2001.02381.x","article-title":"Wilson's disease presenting with rapidly progressive visual loss: another neurologic manifestation of Wilson's disease?","volume":"16","author":"Gow","year":"2001","journal-title":"J Gastroenterol Hepatol."},{"key":"B15","first-page":"176","article-title":"Wilson's disease in children with blindness: an atypical presentation","volume":"22","author":"Rukunuzzaman","year":"2013","journal-title":"Mymensingh Med J."},{"key":"B16","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1159\/000495744","article-title":"Acute-onset optic neuropathy in Wilson's disease","volume":"9","author":"Chou","year":"2019","journal-title":"Case Rep Ophthalmol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1007\/s12519-021-00475-4","article-title":"Challenges and suggestions for precise diagnosis and treatment of Wilson's disease","volume":"17","author":"Dong","year":"2021","journal-title":"World J Pediatr."},{"key":"B18","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/s41572-018-0018-3","article-title":"Wilson disease","volume":"4","author":"Cz\u0142onkowska","year":"2018","journal-title":"Nat Rev Dis Primers."},{"key":"B19","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1007\/s11011-015-9776-8","article-title":"Optical coherence tomography and electrophysiology of retinal and visual pathways in Wilson's disease","volume":"31","author":"Langwi\u0144ska-Wo\u015bko","year":"2016","journal-title":"Metab Brain Dis."},{"key":"B20","doi-asserted-by":"publisher","first-page":"e49825","DOI":"10.1371\/journal.pone.0049825","article-title":"Retinal neurodegeneration in Wilson's disease revealed by spectral domain optical coherence tomography","volume":"7","author":"Albrecht","year":"2012","journal-title":"PLoS ONE."},{"key":"B21","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1007\/s13760-017-0788-5","article-title":"Optical coherence tomography as a marker of neurodegeneration in patients with Wilson's disease","volume":"117","author":"Langwi\u0144ska-Wo\u015bko","year":"2017","journal-title":"Acta Neurol Belg."},{"key":"B22","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/cld.986","article-title":"Wilson's disease and iron overload: pathophysiology and therapeutic implications","volume":"17","author":"Pak","year":"2021","journal-title":"Clin Liver Dis."},{"key":"B23","doi-asserted-by":"publisher","first-page":"912","DOI":"10.5604\/17322693.1111136","volume":"68","author":"Wierzbicka","year":"2014","journal-title":"Postepy Hig Med Dosw."},{"key":"B24","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1146\/annurev.nutr.22.012502.114457","article-title":"Ceruloplasmin metabolism and function","volume":"22","author":"Hellman","year":"2002","journal-title":"Annu Rev Nutr."},{"key":"B25","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1016\/j.preteyeres.2007.07.004","article-title":"Iron homeostasis and toxicity in retinal degeneration","volume":"26","author":"He","year":"2007","journal-title":"Prog Retin Eye Res."},{"key":"B26","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1007\/s10534-021-00289-x","article-title":"Iron metabolism is disturbed and anti-copper treatment improves but does not normalize iron metabolism in Wilson's disease","volume":"34","author":"Gromadzka","year":"2021","journal-title":"Biometals."},{"key":"B27","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1136\/jnnp.54.8.746","article-title":"Penicillamine treatment of Wilson's disease and optic neuropathy","volume":"54","author":"Lee","year":"1991","journal-title":"J Neuro, Neurosurg Psych."},{"key":"B28","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1001\/archneur.1989.00520400013007","article-title":"Deterioration of Wilson's disease following the start of penicillamine therapy","volume":"46","author":"Pall","year":"1989","journal-title":"Arch Neurol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1001\/jama.1963.03060020043019","article-title":"DL-penicillamine as a cause of optic axial neuritis","volume":"185","author":"Tu","year":"1963","journal-title":"JAMA."},{"key":"B30","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1001\/jama.1966.03100210104035","article-title":"Possible relationship of optic neuritis, Wilson's disease, and DL-Penicillamine therapy","volume":"196","author":"Goldstein","year":"1966","journal-title":"JAMA."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.911882\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T05:46:12Z","timestamp":1655185572000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.911882\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,14]]},"references-count":30,"alternative-id":["10.3389\/fneur.2022.911882"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2022.911882","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,14]]},"article-number":"911882"}}