{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T20:30:17Z","timestamp":1792182617796,"version":"4.4.0"},"reference-count":92,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated with the disease, such as cataract, keratopathy and optic nerve hypoplasia. Mutation in the\n                    <jats:italic>PAX6<\/jats:italic>\n                    gene is the most common cause of congenital aniridia, but other causative mutations exist. The main ocular symptoms experienced by those with congenital aniridia are photophobia, glare, low visual acuity, dryness\/irritation of the ocular surface and nystagmus. Management and follow\u2010up of patients with congenital aniridia can be challenging due to the lack of effective therapeutic options and the complexity of ocular manifestations and outcomes. These guidelines for the diagnosis, management and care of congenital aniridia have been developed at the European level, thanks to ANIRIDIA\u2010NET, based on a review of the scientific literature on clinical and molecular characterization, therapeutic options as well as non\u2010medical approaches.\n                  <\/jats:p>","DOI":"10.1111\/aos.17587","type":"journal-article","created":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T14:58:52Z","timestamp":1756825132000},"page":"267-279","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Congenital aniridia: European\n                    <scp>COST<\/scp>\n                    action\n                    <scp>ANIRIDIA<\/scp>\n                    \u2010\n                    <scp>NET<\/scp>\n                    guidelines for diagnosis, management and care"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8961-242X","authenticated-orcid":false,"given":"Davide","family":"Romano","sequence":"first","affiliation":[{"name":"St. Paul's Eye Unit, Department of Corneal Diseases Royal Liverpool University Hospital  Liverpool UK"},{"name":"Department of Eye and Vision Sciences University of Liverpool  Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5148-7643","authenticated-orcid":false,"given":"Vito","family":"Romano","sequence":"additional","affiliation":[{"name":"Eye Clinic, ASST Spedali Civili di Brescia, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7907-4325","authenticated-orcid":false,"given":"Alejandra","family":"Daruich","sequence":"additional","affiliation":[{"name":"Ophthalmology Department Necker\u2010Enfants Malades University Hospital, AP\u2010HP, Paris Cit\u00e9 University  Paris France"},{"name":"INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development Sorbonne Paris Cit\u00e9 University, Centre de Recherche des Cordeliers  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6474-9908","authenticated-orcid":false,"given":"Giulio","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Division of Neuroscience, Cornea and Ocular Surface Disease Unit, Eye Repair Lab IRCCS San Raffaele Scientific Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Robert","sequence":"additional","affiliation":[{"name":"Ophthalmology Department Necker\u2010Enfants Malades University Hospital, AP\u2010HP, Paris Cit\u00e9 University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Semeraro","sequence":"additional","affiliation":[{"name":"Ophthalmology Department Necker\u2010Enfants Malades University Hospital, AP\u2010HP, Paris Cit\u00e9 University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1079-4361","authenticated-orcid":false,"given":"Neil","family":"Lagali","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Clinical Sciences Link\u00f6ping University  Link\u00f6ping Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bremond\u2010Gignac","sequence":"additional","affiliation":[{"name":"Ophthalmology Department Necker\u2010Enfants Malades University Hospital, AP\u2010HP, Paris Cit\u00e9 University  Paris France"},{"name":"INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development Sorbonne Paris Cit\u00e9 University, Centre de Recherche des Cordeliers  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the ANIRIDIA\u2010NET Clinical Guidelines Working Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Aniridia\u2010Europa and Geniris Working Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,9,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2022.11.003"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41433-020-01184-4"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.4103\/1319-4534.347313"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2005.06.035"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/j.jcrs.0000000000000928"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sjopt.2019.10.002"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/children9081252"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3928\/01913913-20170322-01"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0000000000002729"},{"key":"e_1_2_9_11_1","first-page":"47","article-title":"The surgical treatment of glaucoma complicating congenital aniridia","volume":"50","author":"Blake E.M.","year":"1952","journal-title":"Transactions of the American Ophthalmological Society"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oftal.2021.02.002"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/14712598.2018.1508443"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jfo.2022.01.005"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.117.9.1144"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/1049732312452938"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3928\/01913913-20090101-05"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0000000000003779"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1080\/02713683.2024.2320779"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcrs.2007.01.021"},{"key":"e_1_2_9_21_1","article-title":"Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches","volume":"101","author":"Daruich A.","year":"2022","journal-title":"Progress in Retinal and Eye Research"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2021.12.007"},{"key":"e_1_2_9_23_1","first-page":"403","article-title":"Current concepts in the management of amblyopia","volume":"1","author":"Z\u00e1rate B.R.","year":"2007","journal-title":"Clinical Ophthalmology"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2023.04.004"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000002083"},{"issue":"8","key":"e_1_2_9_26_1","first-page":"1087","article-title":"Real\u2010world experience of using ciclosporin\u2010A 0.1% in the management of ocular surface inflammatory diseases","volume":"106","author":"Deshmukh R.","year":"2021","journal-title":"British Journal of Ophthalmology"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.3390\/pharmaceutics13010007"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2023.109746"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12225"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6257(02)00303-X"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10792-021-01982-z"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.004"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2021.01.005"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2021.147283"},{"key":"e_1_2_9_35_1","first-page":"207","article-title":"Progressive changes in the angle in congenital aniridia, with development of glaucoma","volume":"72","author":"Grant W.M.","year":"1974","journal-title":"Transactions of the American Ophthalmological Society"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1934-8"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-2827"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1055\/a-2463-3879"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2006.02.006"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12886-022-02460-5"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtos.2017.05.006"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.5935\/0004-2749.20200023"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.148406"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1159\/000492745"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2023.109603"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-11780"},{"key":"e_1_2_9_47_1","unstructured":"Lagali N. Fagerholm P. Montan P.&Tornqvist K.(2023)Congenital Aniridia: Sweden guidelines.https:\/\/www.socialstyrelsen.se\/kunskapsstod\u2010och\u2010regler\/omraden\/sallsynta\u2010halsotillstand\/om\u2010kunskapsdatabasen\/sok\u2010bland\u2010sallsynta\u2010halsotillstand\/kongenital\u2010aniridi\/."},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtos.2017.11.003"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2019.09.034"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtos.2019.11.002"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2021.02.011"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2017-310927"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.16615"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2017.09.004"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtos.2021.09.001"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2017.10.017"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1080\/02713683.2025.2449915"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICU.0000000000000405"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2011.02.007"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2007.03.087"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2015-307295"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijo.IJO_2000_18"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoc.2018.07.001"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2017.10.002"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1080\/02713683.2024.2438687"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.66.1.20"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2011.07.009"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICU.0b013e328333ea49"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.86.1.62"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40123-024-01084-w"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.3341\/kjo.2010.24.5.291"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm13111608"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1111\/ceo.12109"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14631-4"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2022.11.001"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtos.2016.06.003"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1586\/17469899.2016.1152182"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1159\/000353356"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0886-3350(02)01602-4"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10792-020-01328-1"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.16614"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0000000000003454"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004397-200404410-00008"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-023-00677-5"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1111\/dme.14456"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2023.04.003"},{"key":"e_1_2_9_87_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2022.07.010"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00347-020-01040-6"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.15229"},{"key":"e_1_2_9_90_1","first-page":"59","article-title":"Aniridic glaucoma: the results of gonio\u2010surgery to prevent and treat this problem","volume":"84","author":"Walton D.S.","year":"1986","journal-title":"Transactions of the American Ophthalmological Society"},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-017-0426-1"},{"key":"e_1_2_9_92_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1992.01080160081036"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2019.11.003"}],"container-title":["Acta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aos.17587","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/aos.17587","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aos.17587","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T08:06:15Z","timestamp":1775635575000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/aos.17587"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,2]]},"references-count":92,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1111\/aos.17587"],"URL":"https:\/\/doi.org\/10.1111\/aos.17587","archive":["Portico"],"relation":{},"ISSN":["1755-375X","1755-3768"],"issn-type":[{"value":"1755-375X","type":"print"},{"value":"1755-3768","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,2]]},"assertion":[{"value":"2025-07-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}