{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T19:59:56Z","timestamp":1776801596679,"version":"3.51.2"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T00:00:00Z","timestamp":1668124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects syndrome (MLS), also known as microphthalmia, dermal aplasia, and sclerocornea (MIDAS). A retrospective chart review was conducted to identify patients with a diagnosis of MLS syndrome seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high\u2010frequency ultrasound, AS optical coherence tomography, and molecular testing were reviewed. Five female patients (10 eyes) were identified. One eye was anophthalmic, one was in a status post penetrating keratoplasty, and eight eyes presented with congenital corneal opacity (CCO). Of these, one showed a normal lens and a very small faint CCO; five showed congenital aphakia and characteristic silvery appearance of the cornea with vascularization; and two showed irido\u2010corneal adhesions in association with normal or abnormal lens and localized avascular CCO. Genetic testing was performed and revealed involvement of <jats:italic>HCCS<\/jats:italic> in four patients. In MLS patients, kerato\u2010irido\u2010lenticular dysgenesis can be associated with secondary CCO. It is important to distinguish these CCO from sclerocornea, in order to refine the appropriate management and counseling the parents about the prognosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.63043","type":"journal-article","created":{"date-parts":[[2022,11,12]],"date-time":"2022-11-12T06:05:20Z","timestamp":1668233120000},"page":"586-591","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3521-4290","authenticated-orcid":false,"given":"Elena","family":"Franco","sequence":"first","affiliation":[{"name":"Division of Pediatric Ophthalmology, Strabismus, and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Department of Translational Medicine University of Ferrara  Ferrara Italy"},{"name":"Istituto Internazionale per la Ricerca e Formazione in Oftalmologia (IRFO)  Forl\u00ec Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4004-3959","authenticated-orcid":false,"given":"Hannah L.","family":"Scanga","sequence":"additional","affiliation":[{"name":"Division of Pediatric Ophthalmology, Strabismus, and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5616-5275","authenticated-orcid":false,"given":"Ken K.","family":"Nischal","sequence":"additional","affiliation":[{"name":"Division of Pediatric Ophthalmology, Strabismus, and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Department of Ophthalmology University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania USA"},{"name":"University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania 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