{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T05:24:07Z","timestamp":1791523447137,"version":"4.3.4"},"reference-count":14,"publisher":"Georg Thieme Verlag KG","issue":"03","license":[{"start":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:00:00Z","timestamp":1693353600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Monbl Augenheilkd"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Purpose Congenital aniridia is a severe malformation of almost all eye segments. In addition, endocrinological, metabolic, and central nervous systems diseases may be present. In order to develop better treatment options for this rare disease, an aniridia center must be established. The purpose of this work is to summarize ophthalmic findings of aniridia subjects examined at the Department of Ophthalmology, Saarland University Medical Center in Homburg.<\/jats:p>\n                  <jats:p>Methods Our retrospective single-center study included patients who underwent a comprehensive ophthalmic examination through the head of the KiOLoN (\u201cKinderophthalmologie\u201d, Orthoptics, Low Vision and Neuroophthalmology) Unit of the department between June 2003 and January 2022. Data at the first examination time point have been included.<\/jats:p>\n                  <jats:p>Results Of 286 subjects, 556 eyes of (20.1\u2009\u00b1\u200920.1 years; 45.5% males) were included. There was nystagmus in 518 (93.7%) eyes, and strabismus in 327 (58.8%) eyes. There were 436 (78.4%) eyes with age-appropriate axial length, 104 (18.7%) eyes with microphthalmos, and 13 (2.3%) eyes with buphthalmos. There was iris malformation with atypical coloboma in 34 eyes (6.1%), more than 6 clock hours of iris remnants in 61 eyes (10.9%), less than 6 clock hours of iris remnants in 96 eyes (17.2%), and complete aniridia in 320 (57.5%) eyes. The patients were graded according to the following aniridia-associated keratopathy (AAK) stages: Stage 0 (96 eyes [17.2%], no keratopathy), Stage 1 (178 eyes [32.0%]), Stage 2 (107 eyes [19.2%]), Stage 3 (67 eyes [12.0%]), Stage 4 (62 eyes [11.1%]), Stage 5 (45 eyes [8.0%]). There was secondary glaucoma in 307 (55.5%), macular hypoplasia in 395 (71.4%), and congenital optic nerve head pathology in 223 (40.3%) eyes. The iris malformation type\n          was significantly positively correlated with AAK stage, lens properties, presence of glaucoma, congenital macular, and optic nerve head properties (p\u2009&lt;\u20090.001 for all), while complete aniridia showed the most complications.<\/jats:p>\n                  <jats:p>Conclusions At the Homburg Aniridia Center, the most common ophthalmic signs in congenital aniridia were AAK, iris malformation, cataract, and macular hypoplasia. The iris malformation type may indicate future expression of AAK, cataract, and glaucoma development and it is correlated with a congenital optic nerve head and macular pathology. Our registry will support further detailed longitudinal analysis of ophthalmic and systemic diseases of aniridia subjects during long-term follow-up.<\/jats:p>","DOI":"10.1055\/a-2065-8405","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T18:49:00Z","timestamp":1693421340000},"page":"275-282","source":"Crossref","is-referenced-by-count":19,"title":["A Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia Centre"],"prefix":"10.1055","volume":"241","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8526-4712","authenticated-orcid":false,"given":"Fabian Norbert","family":"Fries","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Saarland University, Homburg\/Saar, Germany"},{"name":"Department of Ophthalmology, Saarland University Medical Center, Homburg\/Saar, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annam\u00e1ria","family":"N\u00e1ray","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Saarland University, Homburg\/Saar, Germany"},{"name":"Department of Ophthalmology, Semmelweis University, Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian","family":"Munteanu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Saarland University Medical Center, Homburg\/Saar, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Stachon","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Saarland University, Homburg\/Saar, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Lagali","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Clinical Sciences, Faculty of Medicine, Link\u00f6ping University, Link\u00f6ping, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9701-8204","authenticated-orcid":false,"given":"Berthold","family":"Seitz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Saarland University Medical Center, Homburg\/Saar, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00f3ra","family":"Szentm\u00e1ry","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Saarland University, Homburg\/Saar, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5137-8658","authenticated-orcid":false,"given":"Barbara","family":"K\u00e4smann-Kellner","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Saarland University Medical Center, Homburg\/Saar, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,8,30]]},"reference":[{"key":"ref2","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1007\/s00347-014-3060-x","article-title":"[Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care (\u201caniridia guide\u201d)]","volume":"111","author":"B K\u00e4smann-Kellner","year":"2014","journal-title":"Ophthalmologe"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.1007\/s00347-014-3058-4","article-title":"[Congenital aniridia or PAX6 syndrome]","volume":"111","author":"B K\u00e4smann-Kellner","year":"2014","journal-title":"Ophthalmologe"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1007\/s00347-014-3061-9","article-title":"[Stage-related therapy of congenital aniridia]","volume":"111","author":"B Seitz","year":"2014","journal-title":"Ophthalmologe"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.jtos.2021.09.001","article-title":"Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions","volume":"22","author":"L Latta","year":"2021","journal-title":"Ocul Surf"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1002\/ca.22987","article-title":"Diagnostic impact of anterior segment angiography of limbal stem cell insufficiency in PAX6-related aniridia","volume":"31","author":"B K\u00e4smann-Kellner","year":"2018","journal-title":"Clin Anat"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/j.ophtha.2019.09.034","article-title":"PAX6 Mutational Status Determines Aniridia-Associated Keratopathy Phenotype","volume":"127","author":"N Lagali","year":"2020","journal-title":"Ophthalmology"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1016\/j.jtos.2019.11.002","article-title":"Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations","volume":"18","author":"N Lagali","year":"2020","journal-title":"Ocul Surf"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"4091","DOI":"10.1007\/s10792-021-01982-z","article-title":"An attempt to optimize the outcome of penetrating keratoplasty in congenital aniridia-associated keratopathy (AAK)","volume":"41","author":"C J Farah","year":"2021","journal-title":"Int Ophthalmol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"108904","DOI":"10.1016\/j.exer.2021.108904","article-title":"Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells","volume":"215","author":"P Katiyar","year":"2022","journal-title":"Exp Eye Res"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.3390\/biom11111651","article-title":"Similarities in DSG1 and KRT3 Downregulation through Retinoic Acid Treatment and PAX6 Knockdown Related Expression Profiles: Does PAX6 Affect RA Signaling in Limbal Epithelial Cells?","volume":"11","author":"L Latta","year":"2021","journal-title":"Biomolecules"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.jtos.2020.04.014","article-title":"Abnormal neovascular and proliferative conjunctival phenotype in limbal stem cell deficiency is associated with altered microRNA and gene expression modulated by PAX6 mutational status in congenital aniridia","volume":"19","author":"L Latta","year":"2021","journal-title":"Ocul Surf"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.exer.2018.10.002","article-title":"Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model","volume":"179","author":"L Latta","year":"2019","journal-title":"Exp Eye Res"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1016\/j.jtos.2021.06.002","article-title":"Dysfunction of the limbal epithelial stem cell niche in aniridia-associated keratopathy","volume":"21","author":"U Schl\u00f6tzer-Schrehardt","year":"2021","journal-title":"Ocul Surf"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1016\/j.survophthal.2021.02.011","article-title":"Congenital aniridia \u2013 A comprehensive review of clinical features and therapeutic approaches","volume":"66","author":"E CS Landsend","year":"2021","journal-title":"Surv Ophthalmol"}],"container-title":["Klinische Monatsbl\u00e4tter f\u00fcr Augenheilkunde"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2065-8405.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T08:54:10Z","timestamp":1730796850000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2065-8405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,30]]},"references-count":14,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2024,3,20]]},"published-print":{"date-parts":[[2024,3]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2065-8405","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0023-2165","1439-3999"],"issn-type":[{"value":"0023-2165","type":"print"},{"value":"1439-3999","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,30]]}}}