{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:41:35Z","timestamp":1747183295995,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T00:00:00Z","timestamp":1634083200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001824","name":"Grantov\u00e1 Agentura \u010cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["GACR 20\u201019278S"],"award-info":[{"award-number":["GACR 20\u201019278S"]}],"id":[{"id":"10.13039\/501100001824","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["UNCE\/MED\/007","PROGRES\u2010Q26\/LF1","SVV 260367\/2017"],"award-info":[{"award-number":["UNCE\/MED\/007","PROGRES\u2010Q26\/LF1","SVV 260367\/2017"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>The aim of the study was to describe the phenotype and molecular genetic causes of X\u2010linked megalocornea (MGC1). We recruited four British, one New Zealand, one Vietnamese and four Czech families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>All probands and three female carriers underwent ocular examination and Sanger sequencing of the <jats:italic>CHRDL1<\/jats:italic> gene. Two of the probands also had magnetic resonance imaging (MRI) of the brain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified nine pathogenic or likely pathogenic and one variant of uncertain significance in <jats:italic>CHRDL1<\/jats:italic>, of which eight are novel. Three probands had ocular findings that have not previously been associated with MGC1, namely pigmentary glaucoma, unilateral posterior corneal vesicles, unilateral keratoconus and unilateral Fuchs heterochromic iridocyclitis. The corneal diameters of the three heterozygous carriers were normal, but two had abnormally thin corneas, and one of these was also diagnosed with unilateral keratoconus. Brain MRI identified arachnoid cysts in both probands, one also had a neuroepithelial cyst, while the second had a midsagittal neurodevelopmental abnormality (cavum septum pellucidum et vergae).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The study expands the spectrum of pathogenic variants and the ocular and brain abnormalities that have been identified in individuals with MGC1. Reduced corneal thickness may represent a mild phenotypic feature in some heterozygous female carriers of <jats:italic>CHRDL1<\/jats:italic> pathogenic variants.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.15022","type":"journal-article","created":{"date-parts":[[2021,10,17]],"date-time":"2021-10-17T09:40:43Z","timestamp":1634463643000},"page":"431-439","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel disease\u2010causing variants and phenotypic features of X\u2010linked megalocornea"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4718-8955","authenticated-orcid":false,"given":"Lubica","family":"Dudakova","sequence":"first","affiliation":[{"name":"Research Unit for Rare Diseases Department of Paediatrics and Inherited Metabolic Disorders First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8192-5192","authenticated-orcid":false,"given":"Stephen","family":"Tuft","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sek\u2010Shir","family":"Cheong","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7403-3433","authenticated-orcid":false,"given":"Pavlina","family":"Skalicka","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases Department of Paediatrics and Inherited Metabolic Disorders First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"},{"name":"Department of Ophthalmology First Faculty of Medicine Charles University and General University Hospital in Prague  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Teaching Hospital Kralovske Vinohrady  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ales","family":"Filous","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Vaneckova","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnostics First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea L.","family":"Vincent","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology New Zealand National Eye Centre University of Auckland  Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alison 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