{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T07:56:24Z","timestamp":1780386984892,"version":"3.54.1"},"reference-count":25,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,3,25]],"date-time":"2023-03-25T00:00:00Z","timestamp":1679702400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Wellcome Trust","award":["224643\/Z\/21\/Z"],"award-info":[{"award-number":["224643\/Z\/21\/Z"]}]},{"name":"Wellcome Trust","award":["200990\/Z\/16\/Z"],"award-info":[{"award-number":["200990\/Z\/16\/Z"]}]},{"name":"Wellcome Trust","award":["CL-2017-06-001"],"award-info":[{"award-number":["CL-2017-06-001"]}]},{"name":"UK National Institute for Health Research (NIHR)","award":["224643\/Z\/21\/Z"],"award-info":[{"award-number":["224643\/Z\/21\/Z"]}]},{"name":"UK National Institute for Health Research (NIHR)","award":["200990\/Z\/16\/Z"],"award-info":[{"award-number":["200990\/Z\/16\/Z"]}]},{"name":"UK National Institute for Health Research (NIHR)","award":["CL-2017-06-001"],"award-info":[{"award-number":["CL-2017-06-001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected. Overall, 10\/11 cases received a probable molecular diagnosis. Genetic variants were identified in four genes: FBN1 (associated with Marfan syndrome and cardiovascular complications; n = 6), ADAMTSL4 (associated with non-syndromic ectopia lentis; n = 2), LTBP2 (n = 1) and ASPH (n = 1). Parents appeared unaffected in 6\/11 cases; the initial presentation of all six of these children was to an ophthalmologist, and only 2\/6 had FBN1 variants. Notably, 4\/11 cases required surgery before the age of 4 years, and only one of these children carried an FBN1 variant. In summary, in this retrospective cohort study, panel-based genetic testing pointed to a molecular diagnosis in &gt;90% of paediatric ectopia lentis cases requiring surgery. In a subset of study participants, genetic analysis revealed changes in genes that have not been linked to extraocular manifestations and highlighted that extensive systemic investigations were not required in these individuals. We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis.<\/jats:p>","DOI":"10.3390\/genes14040791","type":"journal-article","created":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T04:05:40Z","timestamp":1679889940000},"page":"791","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis"],"prefix":"10.3390","volume":"14","author":[{"given":"Mohammud","family":"Musleh","sequence":"first","affiliation":[{"name":"Eye Department, St. James\u2019s University Hospital, Leeds LS9 7TF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Bull","sequence":"additional","affiliation":[{"name":"Manchester Royal Eye Hospital, Manchester M13 9WL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Linton","sequence":"additional","affiliation":[{"name":"Manchester Royal Eye Hospital, Manchester M13 9WL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingshu","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Waller","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St. Mary\u2019s Hospital, Manchester M13 9WL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Hardcastle","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St. Mary\u2019s Hospital, Manchester M13 9WL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK"},{"name":"Manchester Centre for Genomic Medicine, St. Mary\u2019s Hospital, Manchester M13 9WL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6035-4773","authenticated-orcid":false,"given":"Vinod","family":"Sharma","sequence":"additional","affiliation":[{"name":"Manchester Royal Eye Hospital, Manchester M13 9WL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme C.","family":"Black","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK"},{"name":"Manchester Centre for Genomic Medicine, St. Mary\u2019s Hospital, Manchester M13 9WL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susmito","family":"Biswas","sequence":"additional","affiliation":[{"name":"Manchester Royal Eye Hospital, Manchester M13 9WL, UK"},{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane L.","family":"Ashworth","sequence":"additional","affiliation":[{"name":"Manchester Royal Eye Hospital, Manchester M13 9WL, UK"},{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0986-4123","authenticated-orcid":false,"given":"Panagiotis I.","family":"Sergouniotis","sequence":"additional","affiliation":[{"name":"Manchester Royal Eye Hospital, Manchester M13 9WL, UK"},{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK"},{"name":"Manchester Centre for Genomic Medicine, St. Mary\u2019s Hospital, Manchester M13 9WL, UK"},{"name":"Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, LJ1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1038\/eye.2013.274","article-title":"Molecular pathogenesis and management strategies of ectopia lentis","volume":"28","author":"Chandra","year":"2014","journal-title":"Eye"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1186\/s40064-015-1239-5","article-title":"How far is observation allowed in patients with ectopia lentis?","volume":"4","author":"Matsuo","year":"2015","journal-title":"Springerplus"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"313","DOI":"10.3109\/08820538.2013.825276","article-title":"Genetics of ectopia lentis","volume":"28","author":"Sadiq","year":"2013","journal-title":"Semin. Ophthalmol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/j.ejmg.2017.06.005","article-title":"NGS panel analysis in 24 ectopia lentis patients; A clinically relevant test with a high diagnostic yield","volume":"60","author":"Overwater","year":"2017","journal-title":"Eur. J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/s41436-019-0722-8","article-title":"Clinical utility of genetic testing in 201 preschool children with inherited eye disorders","volume":"22","author":"Lenassi","year":"2020","journal-title":"Genet. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1097\/MCD.0000000000000287","article-title":"Traboulsi syndrome due to ASPH mutation: An under-recognised cause of ectopia lentis","volume":"28","author":"Kulkarni","year":"2019","journal-title":"Clin. Dysmorphol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"269","DOI":"10.3928\/01913913-20150714-02","article-title":"New management strategies for ectopia lentis","volume":"52","author":"Simon","year":"2015","journal-title":"J. Pediatr. Ophthalmol. Strabismus"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1016\/S0161-6420(03)00449-4","article-title":"Hereditary subluxated lenses: Visual performances and long-term follow-up after surgery","volume":"110","author":"Anteby","year":"2003","journal-title":"Ophthalmology"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.jaapos.2005.03.004","article-title":"Functional and structural outcomes following lensectomy for ectopia lentis","volume":"9","author":"Letson","year":"2005","journal-title":"J. Am. Assoc. Pediatr. Ophthalmol. Strabismus"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.jcrs.2007.01.032","article-title":"Visual outcomes and complications in surgery for ectopia lentis in children","volume":"33","author":"Konradsen","year":"2007","journal-title":"J. Cataract. Refract. Surg."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1111\/aos.13192","article-title":"Anterior iris-claw intraocular lens implantation for the management of nontraumatic ectopia lentis: Long-term outcomes in a paediatric cohort","volume":"95","author":"Cuadras","year":"2017","journal-title":"Acta Ophthalmol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.jcrs.2007.11.044","article-title":"Iris-sutured intraocular lenses for ectopia lentis in children","volume":"34","author":"Kopel","year":"2008","journal-title":"J. Cataract. Refract. Surg."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.ajo.2020.11.011","article-title":"Three-year outcomes of cionni-modified capsular tension ring implantation in children under 8 years old with ectopia lentis","volume":"224","author":"Cai","year":"2021","journal-title":"Am. J. Ophthalmol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1034\/j.1600-0420.1998.760105.x","article-title":"Congenital ectopia lentis, a Danish national survey","volume":"76","author":"Fuchs","year":"1998","journal-title":"Acta Ophthalmol. Scand."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.ajo.2021.11.014","article-title":"Combination of panel-based next-generation sequencing and clinical findings in congenital ectopia lentis diagnosed in chinese patients","volume":"237","author":"Chen","year":"2022","journal-title":"Am. J. Ophthalmol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1038\/s41433-018-0271-4","article-title":"Are patients with ectopia lentis known to cardiology services?","volume":"33","author":"Maghsoudlou","year":"2019","journal-title":"Eye"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s10545-017-0089-4","article-title":"Isolated sulfite oxidase deficiency","volume":"41","author":"Claerhout","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"S84","DOI":"10.1007\/PL00014310","article-title":"Newborn screening for homocystinuria: Irish and world experience","volume":"157","author":"Naughten","year":"1998","journal-title":"Eur. J. Pediatr."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1080\/13816810.2021.1923039","article-title":"Expanding the clinical spectrum and management of traboulsi syndrome: Report on two siblings homozygous for a novel pathogenic variant in ASPH","volume":"42","author":"Nerinckx","year":"2021","journal-title":"Ophthalmic. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"41 LP","DOI":"10.1136\/adc.76.1.41","article-title":"Evolving phenotype of marfan\u2019s syndrome","volume":"76","author":"Lipscomb","year":"1997","journal-title":"Arch. Dis. Child"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1136\/adc.2006.097469","article-title":"Marfan\u2019s syndrome and the heart","volume":"92","author":"Stuart","year":"2007","journal-title":"Arch. Dis. Child"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1080\/22201173.2007.10872493","article-title":"Anaesthesia for marfan\u2019s syndrome","volume":"13","year":"2007","journal-title":"South. Afr. J. Anaesth. Analg."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e030434","DOI":"10.1136\/bmjopen-2019-030434","article-title":"What hinders congenital ectopia lentis patients\u2019 follow-up visits? A qualitative study","volume":"10","author":"Lin","year":"2020","journal-title":"BMJ Open"},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Stark, V.C., Hensen, F., Kutsche, K., Kort\u00fcm, F., Olfe, J., Wiegand, P., Von Kodolitsch, Y., Kozlik-Feldmann, R., M\u00fcller, G.C., and Mir, T.S. (2020). Genotype-phenotype correlation in children: The impact of FBN1 variants on pediatric Marfan care. Genes, 11.","DOI":"10.3390\/genes11070799"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1007\/s11427-018-9491-8","article-title":"Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with marfan syndrome or a related disease","volume":"62","author":"Li","year":"2019","journal-title":"Sci. China Life Sci."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/4\/791\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:02:53Z","timestamp":1760122973000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/4\/791"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,25]]},"references-count":25,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,4]]}},"alternative-id":["genes14040791"],"URL":"https:\/\/doi.org\/10.3390\/genes14040791","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,25]]}}}