{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:34:12Z","timestamp":1777581252101,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2021,6,2]],"date-time":"2021-06-02T00:00:00Z","timestamp":1622592000000},"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":[[2022,5]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients\u2019 ocular manifestations to provide a basis for future clinical trials and improve MSS patients\u2019 ophthalmologic care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description:<\/jats:title>\n                    <jats:p>Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2\u2009years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet. Mendeliome sequencing unraveled a novel homozygous frameshift mutation in the SIL1 gene ( SIL1, NM_022464.5, c.1042dupG, p.E348Gfs*4), causing MSS. A systematic literature review revealed that cataracts appear in 96% of MSS cases with a mean onset at 3.2\u2009years. Additional frequent ocular features were strabismus (51.6%) and nystagmus (45.2%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>SIL1-related MSS is associated with marked clinical variability. Cataracts can develop later than neuromuscular features and cognitive signs. Since cataract is a relatively late finding, patients may refer to ophthalmologists for other reasons such as refractive errors, strabismus, or nystagmus. Molecular genetic testing for SIL1 is essential to facilitate early diagnosis in patients with suspected MSS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721211021291","type":"journal-article","created":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T05:59:07Z","timestamp":1622699947000},"page":"NP92-NP97","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Genotype-phenotype correlations in ocular manifestations of Marinesco\u2013Sj\u00f6gren syndrome: Case report and literature review"],"prefix":"10.1177","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3244-7328","authenticated-orcid":false,"given":"Nurettin","family":"Bayram","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u015fe","family":"Ka\u00e7ar Bayram","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00fclya-Sevcan","family":"Daimag\u00fcler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany"},{"name":"Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hormos Salimi","family":"Dafsari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany"},{"name":"Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Bamborschke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany"},{"name":"Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00f6khan","family":"Uyanik","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hanusch Hospital, Vienna, Austria"},{"name":"Medical Faculty, Sigmund Freud University, Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Erdogan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Health Sciences, Kayseri Training and Research Hospital, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cemal","family":"\u00d6zsayg\u0131l\u0131","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emine","family":"Pangal","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130sa","family":"Yuvaci","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selim","family":"Do\u011fanay","sequence":"additional","affiliation":[{"name":"Erciyes University, School of Medicine, Department of Radiology, Division of Pediatric Radiology, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakan","family":"G\u00fcm\u00fc\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Erciyes University, School of Medicine, Division of Pediatric Neurology, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00fcseyin","family":"Per","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Erciyes University, School of Medicine, Division of Pediatric Neurology, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology \u2013 Neuromuscular Service, Evelina Children\u2019s Hospital, Guy\u2019s & St Thomas\u2019 NHS Foundation Trust, London, UK"},{"name":"Department of Basic and Clinical Neuroscience, IoPPN, London, UK"},{"name":"Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King\u2019s College London, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebahattin","family":"\u00c7\u0131rak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany"},{"name":"Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 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