{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T22:27:56Z","timestamp":1788820076652,"version":"build-2803163510"},"reference-count":64,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T00:00:00Z","timestamp":1750896000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Blepharospasm is one of the most limiting symptoms in patients with Schwartz-Jampel syndrome and can affect early visual development, causing amblyopia and leading to disability. There is no consensus on the optimal management of blepharospasm in these patients. This systematic review aims to evaluate the current evidence for the appropriate management strategies for blepharospasm in Schwartz-Jampel syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This was a prospective register of systematic reviews (PROSPERO)-registered (CRD42024569495), Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline-adherent systematic review. Databases searched include Medline (PubMed), Scopus, and Web of Science from any time to February 1st, 2025. All scientific manuscripts published discussing the management of blepharospasm in patients with Schwartz-Jampel syndrome were included. A novel therapeutic algorithm has been developed and proposed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>From an initial number of 59 articles, 15 of them were included. No clinical trials nor observational studies were found. All these 15 articles were case series or case reports (quality of evidence: 4 or 5), involving 21 patients. A great heterogeneity in how to manage blepharospasm in Schwartz-Jampel syndrome was gathered. Therapeutic options included oral drugs (sodium channel blockers: carbamazepine, phenytoin, and procainamide), botulinum-toxin-A, and eyelid surgery (orbicularis myectomy). The management algorithm proposal is oral sodium channel blockers as the first option and eyelid surgery as the second option treatment. Botulinum-toxin-A might be considered a therapeutic step prior to surgery.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The published evidence regarding management strategies for blepharospasm in Schwartz-Jampel syndrome is scarce and of low quality. Since this nosology is a very rare disease, efforts should be promoted to conduct clinical research and a consensus document for the management of blepharospasm.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721251348991","type":"journal-article","created":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T04:09:29Z","timestamp":1750910969000},"page":"2277-2289","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Blepharospasm management in Schwartz-Jampel syndrome: A systematic review"],"prefix":"10.1177","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7240-8246","authenticated-orcid":false,"given":"Rachid","family":"Bouchikh-El Jarroudi","sequence":"first","affiliation":[{"name":"Hospital Universitari Germans Trias i Pujol"},{"name":"Service of Ophthalmology, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Spain"},{"name":"Department of Surgery, Universitat Aut\u00f2noma de Barcelona (UAB), Barcelona, Spain"},{"name":"Evidence Based Ophthalmology Unit (Oftalmoevidencia), Scientia Clinical and Epidemiological Research Institute, Trujillo, Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8362-1384","authenticated-orcid":false,"given":"Kolbe","family":"Roche Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Hospital Universitari Germans Trias i Pujol"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester","family":"Casas-Gimeno","sequence":"additional","affiliation":[{"name":"Service of Ophthalmology, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Gonz\u00e1lez-Valdivia","sequence":"additional","affiliation":[{"name":"Service of Ophthalmology, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Ignacio","family":"Ortez-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Service of Neurology, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Roche","sequence":"additional","affiliation":[{"name":"Universitat Internacional de Catalunya"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Prat-Bartomeu","sequence":"additional","affiliation":[{"name":"Service of Ophthalmology, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5049-1379","authenticated-orcid":false,"given":"Sebastian","family":"Videla","sequence":"additional","affiliation":[{"name":"Hospital Universitari Germans Trias i Pujol"},{"name":"Department of Pharmacology, Therapeutics and Toxicology, Autonomous University of Barcelona, Bellaterra, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,6,26]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1952.02930330079030"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1962.00960030056011"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.4103\/1817-1745.159202"},{"key":"e_1_3_2_5_2","unstructured":"Orphanet: S\u00edndrome de Schwartz-Jampel. [cited 2024 Dec 13] https:\/\/www.orpha.net\/es\/disease\/detail\/800?name=jampel&mode=name."},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-3-3"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000115471"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.9.1633"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/82638"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nn801"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.1.58"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/00002341-199807000-00009"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-200607000-00008"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.iop.0000195008.15872.a0"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2012.01.057"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.33588\/rn.3502.2002162"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.4103\/2008-322X.188401"},{"key":"e_1_3_2_18_2","article-title":"The PRISMA 2020 statement: an updated guideline for reporting systematic reviews","volume":"11","author":"Page MJ","year":"2021","unstructured":"Page MJ, McKenzie JE, Bossuyt PM, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. Br Med J 2021; 11: n71.","journal-title":"Br Med J"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmjophth-2020-000533"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-psych-010418-102803"},{"key":"e_1_3_2_21_2","unstructured":"Bouchikh El Jarroudi R Roche Fern\u00e1ndez K Casas Gimeno E et al. Blepharospasm management in Schwartz-Jampel syndrome: a systematic review. PROSPERO 2024 CRD42024569495 https:\/\/www.crd.york.ac.uk\/prospero\/display_record.php?ID=CRD42024569495."},{"key":"e_1_3_2_22_2","volume-title":"Joanna Briggs institute reviewer\u2019s manual","author":"Moola S","year":"2017","unstructured":"Moola S, Munn Z, Tufanaru C, et al. Chapter 7: systematic reviews of etiology and risk. In: Aromataris E, Munn Z (eds) Joanna Briggs institute reviewer\u2019s manual. The Joanna Briggs Institute, 2017. https:\/\/reviewersmanual.joannabriggs.org\/."},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1159\/000381357"},{"key":"e_1_3_2_24_2","unstructured":"Howick J Chalmers I Glasziou P. OCEBM Levels of Evidence Working Group \u2018The Oxford 2011 Levels of Evidence\u2019: Oxford Centre for Evidence-Based Medicine. Oxford 2011."},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071547"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcjo.2015.08.012"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.24953\/turkjped.2019.06.023"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808320621"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1097\/IOP.0000000000000503"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13555-023-01088-7"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2020.10.009"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(01)01104-7"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1097\/00002341-198601070-00006"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90124-B"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880131210"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(96)00160-9"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1086\/340390"},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2016.09.003"},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.145.4.911"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2018.01.009"},{"key":"e_1_3_2_41_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050587"},{"key":"e_1_3_2_42_2","doi-asserted-by":"publisher","DOI":"10.1038\/86941"},{"key":"e_1_3_2_43_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880130609"},{"key":"e_1_3_2_44_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1041231"},{"key":"e_1_3_2_45_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80609-X"},{"key":"e_1_3_2_46_2","doi-asserted-by":"publisher","DOI":"10.4103\/sja.SJA_98_18"},{"key":"e_1_3_2_47_2","doi-asserted-by":"publisher","DOI":"10.4103\/sja.sja_163_22"},{"key":"e_1_3_2_48_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-23596"},{"key":"e_1_3_2_49_2","volume-title":"StatPearls","author":"Zeppieri M","year":"2025","unstructured":"Zeppieri M, Ameer MA, Jahngir MU, et al. Meige syndrome. In: StatPearls. Treasure Island, FL: StatPearls Publishing, 2025 [cited 2025 May 20]. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK513358\/."},{"key":"e_1_3_2_50_2","doi-asserted-by":"publisher","DOI":"10.1097\/SAP.0000000000003367"},{"key":"e_1_3_2_51_2","doi-asserted-by":"publisher","DOI":"10.1097\/SAP.0000000000002182"},{"key":"e_1_3_2_52_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(93)80448-4"},{"key":"e_1_3_2_53_2","doi-asserted-by":"publisher","DOI":"10.3390\/toxins10080313"},{"key":"e_1_3_2_54_2","doi-asserted-by":"publisher","DOI":"10.5114\/ada.2019.82795"},{"key":"e_1_3_2_55_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmhg.2017.06.001"},{"key":"e_1_3_2_56_2","doi-asserted-by":"publisher","DOI":"10.4103\/ija.ija_835_21"},{"key":"e_1_3_2_57_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2019.02.011"},{"key":"e_1_3_2_58_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.04.077"},{"key":"e_1_3_2_59_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pmr.2010.05.001"},{"key":"e_1_3_2_60_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1979.tb02975.x"},{"key":"e_1_3_2_61_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130109"},{"key":"e_1_3_2_62_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091690"},{"key":"e_1_3_2_63_2","first-page":"131","article-title":"Schwartz-Jampel syndrome: a description of two adult siblings","volume":"35","author":"Carod-Artal FJ","year":"2002","unstructured":"Carod-Artal FJ, Fernandes da Silva TV, Christino-Marinho PB, et al. Schwartz-Jampel syndrome: a description of two adult siblings. Rev Neurol 2002; 35: 131\u2013134.","journal-title":"Rev Neurol"},{"key":"e_1_3_2_64_2","article-title":"Schwartz-Jampel syndrome type-1: compound heterozygosity of two novel variants","author":"Atmaca FG","year":"2024","unstructured":"Atmaca FG, Akg\u00fcn Do\u011fan \u00d6, Kutlubay B, et al. Schwartz-Jampel syndrome type-1: compound heterozygosity of two novel variants. J Clin Res Pediatr Endocrinol 2024.","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"e_1_3_2_65_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25610"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721251348991","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11206721251348991","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721251348991","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T08:54:51Z","timestamp":1784019291000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11206721251348991"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,26]]},"references-count":64,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1177\/11206721251348991"],"URL":"https:\/\/doi.org\/10.1177\/11206721251348991","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,26]]}}}