{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T19:09:46Z","timestamp":1775675386901,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,5,3]],"date-time":"2013-05-03T00:00:00Z","timestamp":1367539200000},"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":["Clinical Exper Ophthalmology"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>We report a family with ptosis, cataract, iris hypoplasia and gradual corneal opacification occurring in association with a <jats:italic>PAX6<\/jats:italic> mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Case\u2010series.<\/jats:p><\/jats:sec><jats:sec><jats:title>Participants<\/jats:title><jats:p>Fourteen family members \u2013 8 affected, 6 unaffected controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>All participants underwent ophthalmological assessment, including best\u2010corrected visual acuity, slit\u2010lamp\u2010examination, pachymetry, endothelial cell\u2010count, tonometry and dilated fundoscopy. All subjects underwent anthropometry and assessment of glycaemic status. Genetic analysis of the <jats:italic>PAX6<\/jats:italic> gene was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main Outcome Measures<\/jats:title><jats:p>Presence of ptosis, corneal, iris and lenticular changes, gycaemic and <jats:italic>PAX6<\/jats:italic> status.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All eight affected subjects had ptosis with reduced levator function, anterior polar cataracts, and corneal changes of variable severity \u2013 two patients had undergone penetrating keratoplasties, with graft histology revealing conjunctival cells on the cornea and severe fibroinflammatory change. Five patients had iris hypoplasia. One patient had aphakic glaucoma and another had hypoplastic optic discs. Four of the six controls had no ocular features of this syndrome, and two had isolated mild ptosis. There was no difference in height or body mass index between cases and family controls (<jats:italic>p<\/jats:italic>\u2009&gt;\u20090.05), but Haemoglobin A1c was greater in the cases (median [interquartile range] 5.6(0.8) vs 5.1(0.3), <jats:italic>p<\/jats:italic>\u2009=\u20090.028). Genetic analysis confirmed a pathogenic <jats:italic>PAX6<\/jats:italic> mutation in exon 12 (c1439delC) in all eight patients, but none of the controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of this particular constellation of ocular signs occurring in association with a <jats:italic>PAX6<\/jats:italic> mutation. There was no association with anthropometric features, but affected subjects had worse glycaemia than controls, which may be related to the known role of <jats:italic>PAX6<\/jats:italic> in development of the pancreas.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ceo.12109","type":"journal-article","created":{"date-parts":[[2013,4,9]],"date-time":"2013-04-09T10:08:48Z","timestamp":1365502128000},"page":"835-841","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["<i><scp>PAX6<\/scp><\/i> mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?"],"prefix":"10.1111","volume":"41","author":[{"given":"Neena M","family":"Peter","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Royal Berkshire Hospital  Reading UK"},{"name":"Oxford Eye Hospital The John Radcliffe Hospital  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Leyland","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Royal Berkshire Hospital  Reading UK"},{"name":"Oxford Eye Hospital The John Radcliffe Hospital  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hardeep S","family":"Mudhar","sequence":"additional","affiliation":[{"name":"National Specialist Ophthalmic Pathology Service Department of Histopathology Royal Hallamshire Hospital  Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo","family":"Lowndes","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Oxford Radcliffe Hospitals NHS Trust  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharine R","family":"Owen","sequence":"additional","affiliation":[{"name":"Oxford Centre for Diabetes, Endocrinology and Metabolism University of Oxford  Oxford UK"},{"name":"Oxford NIHR Biomedical Research Centre Churchill Hospital  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Stewart","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Oxford Radcliffe Hospitals NHS Trust  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,5,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(77)90139-8"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(80)90062-8"},{"key":"e_1_2_6_4_1","first-page":"1286","article-title":"Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization","volume":"51","author":"Fantes JA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0892-328"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.13.1662"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/387406a0"},{"key":"e_1_2_6_8_1","first-page":"14","article-title":"Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology","volume":"11","author":"Edghill EL","year":"2010","journal-title":"JOP"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.51.1.224"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2005.01469.x"},{"key":"e_1_2_6_11_1","unstructured":"University of Oxford Diabetes Trials Unit.HOMA calculator.2004. 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