{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:40Z","timestamp":1775804800786,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T00:00:00Z","timestamp":1763337600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T00:00:00Z","timestamp":1763337600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["224643\/Z\/21\/Z"],"award-info":[{"award-number":["224643\/Z\/21\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014653","name":"Manchester Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203308"],"award-info":[{"award-number":["NIHR203308"]}],"id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>ADAMTSL4<\/jats:italic>\n                    are an important cause of isolated ectopia lentis with an increasing number of genetically confirmed cases internationally. We sought to better describe ocular features seen with pathogenic variants in\n                    <jats:italic>ADAMTSL4<\/jats:italic>\n                    . We performed a retrospective, multicenter study examining the phenotypic and genotypic spectrum of\n                    <jats:italic>ADAMTSL4<\/jats:italic>\n                    \u2010associated ocular disease. We identified 41 individuals from 32 families with genetically confirmed\n                    <jats:italic>ADAMTSL4<\/jats:italic>\n                    \u2010related disease across six tertiary referral centers across Europe. Identified participants had a young age of diagnosis (median 1.3\u2009years) and a highly myopic refractive error (mean SE \u221210.27\u2009D). A diagnosis of ectopia lentis et pupillae was made in a third of cases, with a younger age at diagnosis (median 0.5\u2009years). Subluxation tended to be in the inferior direction (~33%). Zonules were noted to be missing or absent in the majority of cases. Sixteen different pathogenic variants in\n                    <jats:italic>ADAMTSL4<\/jats:italic>\n                    were reported. A previously reported 20\u2010bp deletion (c.767_786del) was highly prevalent in this cohort (23\/32), and all ectopia lentis et pupillae cases carried this variant.\n                    <jats:italic>ADAMTSL4<\/jats:italic>\n                    \u2010related disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as\n                    <jats:italic>FBN1<\/jats:italic>\n                    ). Early identification of typical phenotypic features alongside genetic testing can aid early, precise diagnosis and prevent unnecessary investigations.\n                  <\/jats:p>","DOI":"10.1111\/cge.70109","type":"journal-article","created":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T09:12:56Z","timestamp":1763370776000},"page":"730-741","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Phenotypic and Genotypic Features of\n                    <i>ADAMTSL4<\/i>\n                    \u2010Related Ocular Disease"],"prefix":"10.1111","volume":"109","author":[{"given":"Katie M.","family":"Williams","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Sight and Sound Centre, Great Ormond Street Hospital  London UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust  London UK"},{"name":"Section of Ophthalmology King's College London, St Thomas Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Berger","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics University of Zurich  Schlieren Switzerland"},{"name":"Zurich Center for Integrative Human Physiology (ZIHP) University of Zurich  Zurich Switzerland"},{"name":"Neuroscience Center Zurich (ZNZ) University and ETH  Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"Koller","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics University of Zurich  Schlieren Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma Kivrak","family":"Pfiffner","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics University of Zurich  Schlieren Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Maspoli","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics University of Zurich  Schlieren Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiradet","family":"Gloggnitzer","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics University of Zurich  Schlieren Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Britta V. T.","family":"Br\u00fchwiler","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Hospital and University of Zurich  Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Stathopoulos","sequence":"additional","affiliation":[{"name":"Jules\u2010Gonin Eye Hospital  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francis","family":"Munier","sequence":"additional","affiliation":[{"name":"Jules\u2010Gonin Eye Hospital  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"Allen","sequence":"additional","affiliation":[{"name":"Cambridge University Hospital NHS Trust  Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christos","family":"Iosifidis","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester  Manchester UK"},{"name":"Manchester Royal Eye Hospital and St Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graeme C.","family":"Black","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester  Manchester UK"},{"name":"Manchester Royal Eye Hospital and St Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panagiotis I.","family":"Sergouniotis","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester  Manchester UK"},{"name":"Manchester Royal Eye Hospital and St Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian Christopher","family":"Lloyd","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Sight and Sound Centre, Great Ormond Street Hospital  London UK"},{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester  Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Gerth\u2010Kahlert","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Hospital and University of Zurich  Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14040791"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.06.005"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2021.11.014"},{"key":"e_1_2_8_5_1","volume-title":"GeneReviews","author":"Rodahl 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