{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T12:06:31Z","timestamp":1782302791358,"version":"3.54.5"},"reference-count":106,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100008071","name":"Glaucoma Research Society of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1016\/j.exer.2019.107815","type":"journal-article","created":{"date-parts":[[2019,9,24]],"date-time":"2019-09-24T11:07:40Z","timestamp":1569323260000},"page":"107815","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"special_numbering":"C","title":["Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current\/emerging therapies"],"prefix":"10.1016","volume":"189","author":[{"given":"Paul W.","family":"Chrystal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2019.107815_bib1","first-page":"2074","article-title":"PAX6 aniridia and interhemispheric brain anomalies","volume":"15","author":"Abouzeid","year":"2009","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2019.107815_bib2","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/j.exer.2008.01.013","article-title":"Extracellular matrix in the trabecular meshwork","volume":"86","author":"Acott","year":"2008","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.exer.2019.107815_bib3","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1038\/ng.422","article-title":"FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation","volume":"41","author":"Aldinger","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib4","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0002-9394(00)00525-0","article-title":"Axenfeld-Rieger syndrome in the age of molecular genetics","volume":"130","author":"Alward","year":"2000","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib5","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0002-9394(00)00525-0","article-title":"Axenfeld-Rieger syndrome in the age of molecular genetics","volume":"130","author":"Alward","year":"2000","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib6","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1007\/PL00000647","article-title":"Rieger syndrome: a clinical, molecular, and biochemical analysis","volume":"57","author":"Amendt","year":"2000","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.exer.2019.107815_bib7","first-page":"593","article-title":"Limbal stem cell transplantation: current perspectives","volume":"10","author":"Atallah","year":"2016","journal-title":"Clin. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib8","first-page":"381","article-title":"Embryotoxon cornea posterius","author":"Axenfeld","year":"1920","journal-title":"Klin. Monatsbl. Augenheilkd."},{"key":"10.1016\/j.exer.2019.107815_bib9","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1002\/jcb.23028","article-title":"13 years of cultured limbal epithelial cell therapy: a review of the outcomes","volume":"112","author":"Baylis","year":"2011","journal-title":"J. Cell. Biochem."},{"key":"10.1016\/j.exer.2019.107815_bib10","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1093\/hmg\/ddl008","article-title":"Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis","volume":"15","author":"Berry","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib11","doi-asserted-by":"crossref","first-page":"10292","DOI":"10.1074\/jbc.M110266200","article-title":"FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain","volume":"277","author":"Berry","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.exer.2019.107815_bib12","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1097\/01.mcd.0000228417.36295.4d","article-title":"Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son","volume":"15","author":"Calcagni","year":"2006","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.exer.2019.107815_bib13","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/sctm.18-0140","article-title":"Allogeneic ex vivo expanded corneal epithelial stem cell transplantation: a randomized controlled clinical trial","volume":"8","author":"Campbell","year":"2019","journal-title":"Stem Cells Transl Med"},{"key":"10.1016\/j.exer.2019.107815_bib14","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1097\/ICO.0000000000001690","article-title":"Infectious keratitis after ocular surface stem cell transplantation","volume":"37","author":"Cheung","year":"2018","journal-title":"Cornea"},{"key":"10.1016\/j.exer.2019.107815_bib15","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1111\/j.1600-0714.1986.tb00572.x","article-title":"Dental and craniofacial anomalies OF Axenfeld-Rieger syndrome","volume":"15","author":"Childers","year":"1986","journal-title":"J. Oral Pathol. Med."},{"key":"10.1016\/j.exer.2019.107815_bib17","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1001\/archophthalmol.2010.42","article-title":"Ophthalmological features associated with COL4A1 mutations","volume":"128","author":"Coupry","year":"2010","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib18","doi-asserted-by":"crossref","first-page":"25001","DOI":"10.1074\/jbc.M201737200","article-title":"Differential regulation of gene expression by PITX2 isoforms","volume":"277","author":"Cox","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.exer.2019.107815_bib19","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/ICO.0000000000000067","article-title":"Glaucoma progression and role of glaucoma surgery in patients with Boston keratoprosthesis","volume":"33","author":"Crnej","year":"2014","journal-title":"Cornea"},{"key":"10.1016\/j.exer.2019.107815_bib20","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1167\/iovs.10-5309","article-title":"Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations","volume":"52","author":"D'Haene","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107815_bib21","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ydbio.2016.12.005","article-title":"Master regulators in development: views from the Drosophila retinal determination and mammalian pluripotency gene networks","volume":"421","author":"Davis","year":"2017","journal-title":"Dev. Biol."},{"key":"10.1016\/j.exer.2019.107815_bib22","doi-asserted-by":"crossref","DOI":"10.1136\/bmj.c3666","article-title":"The clinical importance of white matter hyperintensities on brain magnetic resonance imaging: systematic review and meta-analysis","volume":"341","author":"Debette","year":"2010","journal-title":"Br. Med. J."},{"key":"10.1016\/j.exer.2019.107815_bib23","doi-asserted-by":"crossref","first-page":"2548","DOI":"10.1167\/iovs.17-23223","article-title":"FOXC1 regulates expression of prostaglandin receptors leading to an attenuated response to latanoprost","volume":"59","author":"Doucette","year":"2018","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107815_bib24","first-page":"621984","article-title":"Dental and craniofacial anomalies associated with Axenfeld-Rieger syndrome with PITX2 mutation","author":"Dressler","year":"2010","journal-title":"Case Rep Med"},{"key":"10.1016\/j.exer.2019.107815_bib25","first-page":"88","article-title":"Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia","volume":"21","author":"Dubey","year":"2015","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2019.107815_bib26","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.pediatrneurol.2016.04.010","article-title":"COL4A1 mutation in a neonate with intrauterine stroke and anterior segment dysgenesis","volume":"66","author":"Durrani-Kolarik","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.exer.2019.107815_bib27","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1136\/jmg.34.3.191","article-title":"Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193","volume":"34","author":"Flomen","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib28","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1006\/geno.1997.5127","article-title":"Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximate to 90 kb upstream of this gene","volume":"47","author":"Flomen","year":"1998","journal-title":"Genomics"},{"key":"10.1016\/j.exer.2019.107815_bib29","doi-asserted-by":"crossref","first-page":"2599","DOI":"10.1167\/iovs.08-3251","article-title":"Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome","volume":"50","author":"Footz","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107815_bib30","doi-asserted-by":"crossref","first-page":"4877","DOI":"10.1172\/JCI75109","article-title":"Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease","volume":"124","author":"French","year":"2014","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.exer.2019.107815_bib32","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/j.ajhg.2016.03.004","article-title":"Recessive and dominant de novo ITPR1 mutations cause gillespie syndrome","volume":"98","author":"Gerber","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib33","doi-asserted-by":"crossref","first-page":"109","DOI":"10.4103\/0973-029X.157219","article-title":"Axenfeld-Rieger syndrome associated with severe maxillofacial and skeletal anomalies","volume":"19","author":"Gokce","year":"2015","journal-title":"J. Oral Maxillofac. Pathol."},{"key":"10.1016\/j.exer.2019.107815_bib34","doi-asserted-by":"crossref","first-page":"104","DOI":"10.5301\/EJO.2011.8318","article-title":"Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study","volume":"22","author":"Gramer","year":"2012","journal-title":"Eur. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib35","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1172\/JCI70462","article-title":"Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects","volume":"124","author":"Gregory-Evans","year":"2014","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.exer.2019.107815_bib36","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/ajmg.a.35697","article-title":"Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation","volume":"161a","author":"Gripp","year":"2013","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib37","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/sj.ejhg.5200308","article-title":"Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype","volume":"7","author":"Gronskov","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib38","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/ajmg.10493","article-title":"Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?","volume":"111","author":"Grosso","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib39","first-page":"444","article-title":"Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report","volume":"49","author":"Guerbuez-Koez","year":"2007","journal-title":"Turk. J. Pediatr."},{"key":"10.1016\/j.exer.2019.107815_bib40","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/S0002-9394(98)00191-3","article-title":"Genotype\/phenotype correlations in aniridia","volume":"126","author":"Gupta","year":"1998","journal-title":"Am. J. Ophthalmol."},{"issue":"8\u20139","key":"10.1016\/j.exer.2019.107815_bib41","first-page":"881","article-title":"The genetic architecture of aniridia and Gillespie syndrome","volume":"138","author":"Hall","year":"2018","journal-title":"Hum. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib42","doi-asserted-by":"crossref","first-page":"515","DOI":"10.3171\/jns.1984.61.3.0515","article-title":"The dandy-walker malformation - a review OF 40 cases","volume":"61","author":"Hirsch","year":"1984","journal-title":"J. Neurosurg."},{"key":"10.1016\/j.exer.2019.107815_bib43","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1083\/jcb.152.3.545","article-title":"PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome","volume":"152","author":"Hjalt","year":"2001","journal-title":"JCB (J. Cell Biol.)"},{"key":"10.1016\/j.exer.2019.107815_bib44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399405010082","article-title":"Current molecular understanding of Axenfeld-Rieger syndrome","volume":"7","author":"Hjalt","year":"2005","journal-title":"Expert Rev. Mol. Med."},{"key":"10.1016\/j.exer.2019.107815_bib45","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/ajmg.b.30237","article-title":"A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes","volume":"141B","author":"Idrees","year":"2006","journal-title":"Am. J. Med. Genet. Part B-Neuropsychiatric Genetics"},{"key":"10.1016\/j.exer.2019.107815_bib46","doi-asserted-by":"crossref","first-page":"3573","DOI":"10.1167\/iovs.08-3032","article-title":"Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia","volume":"50","author":"Ito","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107815_bib47","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1097\/IJG.0000000000000019","article-title":"Aniridic glaucoma: long-term visual outcomes and phenotypic associations","volume":"24","author":"Jain","year":"2015","journal-title":"J. Glaucoma"},{"key":"10.1016\/j.exer.2019.107815_bib48","doi-asserted-by":"crossref","first-page":"83","DOI":"10.17796\/jcpd.30.1.v1732398454r0244","article-title":"Axenfeld-Rieger syndrome: report on dental and craniofacial findings","volume":"30","author":"Jena","year":"2005","journal-title":"J. Clin. Pediatr. Dent."},{"key":"10.1016\/j.exer.2019.107815_bib49","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/nrneph.2013.102","article-title":"Renal involvement and the role of Notch signalling in Alagille syndrome","volume":"9","author":"Kamath","year":"2013","journal-title":"Nat. Rev. Nephrol."},{"key":"10.1016\/j.exer.2019.107815_bib50","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0925-4773(96)00539-4","article-title":"Five years on the wings of fork head","volume":"57","author":"Kaufmann","year":"1996","journal-title":"Mech. Dev."},{"key":"10.1016\/j.exer.2019.107815_bib51","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1006\/dbio.1999.9314","article-title":"The forkhead\/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye","volume":"211","author":"Kidson","year":"1999","journal-title":"Dev. Biol."},{"key":"10.1016\/j.exer.2019.107815_bib52","first-page":"1740","article-title":"Analysis of FOXD3 sequence variation in human ocular disease","volume":"18","author":"Kloss","year":"2012","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2019.107815_bib53","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1097\/OPX.0000000000000942","article-title":"Five-Year PROSE treatment for aniridic keratopathy","volume":"93","author":"Kojima","year":"2016","journal-title":"Optom. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107815_bib54","first-page":"43","article-title":"Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India","volume":"9","author":"Komatireddy","year":"2003","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2019.107815_bib55","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1093\/hmg\/9.14.2131","article-title":"Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders","volume":"9","author":"Kozlowski","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib56","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0092-8674(00)81204-0","article-title":"The forkhead\/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus","volume":"93","author":"Kume","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.exer.2019.107815_bib57","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/S0168-9525(03)00111-2","article-title":"Fox's in development and disease","volume":"19","author":"Lehmann","year":"2003","journal-title":"Trends Genet."},{"issue":"10","key":"10.1016\/j.exer.2019.107815_bib108","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/hmg\/11.10.1177","article-title":"Molecular genetics of Axenfeld\u2013Rieger malformations","volume":"11","author":"Lines","year":"2002","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.exer.2019.107815_bib58","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ejmg.2015.02.011","article-title":"Subtelomeric 6p25 deletion\/duplication: report of a patient with new clinical findings and genotype-phenotype correlations","volume":"58","author":"Linhares","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib59","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1002\/ajmg.a.31732","article-title":"Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up","volume":"143A","author":"Lowry","year":"2007","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib60","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1471-2350-7-59","article-title":"Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome","volume":"7","author":"Maciolek","year":"2006","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib61","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1038\/eye.2016.66","article-title":"Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome","volume":"30","author":"Mandal","year":"2016","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.exer.2019.107815_bib62","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0004273","article-title":"The tumor suppressor PRDM5 regulates wnt signaling at early stages of zebrafish development","volume":"4","author":"Meani","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.exer.2019.107815_bib63","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1086\/302109","article-title":"Mutations of the forkhead\/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly","volume":"63","author":"Mears","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib64","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1111\/j.1600-0714.2008.00650.x","article-title":"Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation","volume":"37","author":"Meyer-Marcotty","year":"2008","journal-title":"J. Oral Pathol. Med."},{"key":"10.1016\/j.exer.2019.107815_bib65","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s10048-015-0462-0","article-title":"Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome","volume":"17","author":"Micheal","year":"2016","journal-title":"Neurogenetics"},{"key":"10.1016\/j.exer.2019.107815_bib66","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/(SICI)1096-8628(19980707)78:3<263::AID-AJMG11>3.0.CO;2-D","article-title":"Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?","volume":"78","author":"Moog","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib67","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/1471-2415-6-28","article-title":"Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia","volume":"6","author":"Neethirajan","year":"2006","journal-title":"BMC Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib68","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1002\/ajmg.1320350404","article-title":"Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome","volume":"35","author":"Nevin","year":"1990","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib69","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1111\/j.1365-263X.2005.00639.x","article-title":"Dental anomalies in Axenfeld-Rieger syndrome","volume":"15","author":"O'Dwyer","year":"2005","journal-title":"Int. J. Paediatr. Dent."},{"key":"10.1016\/j.exer.2019.107815_bib70","first-page":"613","article-title":"A second locus for Rieger syndrome maps to chromosome 13q14","volume":"59","author":"Phillips","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib71","doi-asserted-by":"crossref","first-page":"e340","DOI":"10.1111\/aos.12923","article-title":"The efficacy and complications of black diaphragm intra-ocular lens implantation in patients with congenital aniridia","volume":"94","author":"Qiu","year":"2016","journal-title":"Acta Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib72","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1038\/ejhg.2012.80","article-title":"PITX2 and FOXC1 spectrum of mutations in ocular syndromes","volume":"20","author":"Reis","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib73","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/sj.eye.6701508","article-title":"The prevalence and associated features of posterior embryotoxon in the general ophthalmic clinic","volume":"19","author":"Rennie","year":"2005","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.exer.2019.107815_bib74","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1007\/s00417-016-3292-3","article-title":"Long-term results after artificial iris implantation in patients with aniridia","volume":"254","author":"Rickmann","year":"2016","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib75","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1007\/BF01853793","article-title":"Beitrage zur kenntnis seltener missbildungen der iris. II. Uber hypoplasie der irisvorderblattes mit verlagerung und entrundung der pupille","author":"Rieger","year":"1935","journal-title":"Graefe. Arch. Klin. Exp. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib76","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ajo.2015.10.023","article-title":"Boston type 1 keratoprosthesis study, 2016 visual acuity outcomes of the Boston keratoprosthesis type 1: multicenter study results","volume":"162","author":"Rudnisky","year":"2016","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib77","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1586\/17469899.2016.1152182","article-title":"Congenital aniridia: etiology, manifestations and management","volume":"11","author":"Samant","year":"2016","journal-title":"Expert Rev. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib78","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1136\/bjophthalmol-2011-301164","article-title":"Simple limbal epithelial transplantation (SLET): a novel surgical technique for the treatment of unilateral limbal stem cell deficiency","volume":"96","author":"Sangwan","year":"2012","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib79","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1136\/jmg.34.12.1012","article-title":"Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25 -> q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation","volume":"34","author":"Schinzel","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib80","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0195971","article-title":"Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms","volume":"13","author":"Seifi","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.exer.2019.107815_bib81","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1111\/cge.13148","article-title":"Axenfeld-Rieger syndrome","volume":"93","author":"Seifi","year":"2018","journal-title":"Clin. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib82","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1111\/cge.13148","article-title":"Axenfeld-Rieger syndrome","volume":"93","author":"Seifi","year":"2018","journal-title":"Clin. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib83","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/ng1296-392","article-title":"Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome","volume":"14","author":"Semina","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib84","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/ng1296-392","article-title":"Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome","volume":"14","author":"Semina","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib85","first-page":"736","article-title":"Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome","volume":"81","author":"Shields","year":"1983","journal-title":"Trans. Am. Ophthalmol. Soc."},{"key":"10.1016\/j.exer.2019.107815_bib86","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/0039-6257(85)90205-X","article-title":"Axenfeld-Rieger syndrome - a spectrum OF developmental disorders","volume":"29","author":"Shields","year":"1985","journal-title":"Surv. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib87","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ana.21191","article-title":"COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke","volume":"62","author":"Sibon","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.exer.2019.107815_bib88","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1038\/ejhg.2017.147","article-title":"Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants","volume":"25","author":"Souzeau","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib89","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1167\/iovs.06-0472","article-title":"Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations","volume":"48","author":"Strungaru","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107815_bib90","doi-asserted-by":"crossref","DOI":"10.1155\/2010\/212656","article-title":"Axenfeld-Rieger syndrome associated with congenital glaucoma and cytochrome P4501B1 gene mutations","volume":"2010","author":"Tanwar","year":"2010","journal-title":"Case Rep Med"},{"key":"10.1016\/j.exer.2019.107815_bib91","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1007\/s10384-010-0852-7","article-title":"Aniridia associated with aphakia and secondary glaucoma","volume":"54","author":"Terasaki","year":"2010","journal-title":"Jpn. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib92","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/0092-8674(91)90284-6","article-title":"Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region","volume":"67","author":"Ton","year":"1991","journal-title":"Cell"},{"key":"10.1016\/j.exer.2019.107815_bib93","doi-asserted-by":"crossref","first-page":"2925","DOI":"10.1002\/ajmg.a.33858","article-title":"Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25","volume":"155A","author":"Tonoki","year":"2011","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib94","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1038\/ejhg.2009.93","article-title":"Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations","volume":"17","author":"Tumer","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib95","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1093\/hmg\/11.10.1161","article-title":"PAX6 in sensory development","volume":"11","author":"van Heyningen","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib96","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.ejmg.2017.10.018","article-title":"4q25 microdeletion encompassing PITX2: a patient presenting with tetralogy of Fallot and dental anomalies without ocular features","volume":"61","author":"Vande Perre","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib97","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1097\/ICU.0000000000000253","article-title":"Management of aniridia and iris defects: an update on iris prosthesis options","volume":"27","author":"Weissbart","year":"2016","journal-title":"Curr. Opin. Ophthalmol."},{"issue":"1","key":"10.1016\/j.exer.2019.107815_bib98","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ydbio.2019.06.005","article-title":"foxc1 is required for embryonic head vascular smooth muscle differentiation in zebrafish","volume":"453","author":"Whitesell","year":"2019","journal-title":"Dev. Biol."},{"key":"10.1016\/j.exer.2019.107815_bib99","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1001\/archopht.1992.01080160081036","article-title":"The results of glaucoma surgery in aniridia","volume":"110","author":"Wiggins","year":"1992","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107815_bib100","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/ajmg.1320300302","article-title":"Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers","volume":"30","author":"Wittig","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib101","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/j.ajhg.2011.05.007","article-title":"Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance","volume":"88","author":"Wright","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib102","article-title":"Mutations in PRDM5 and ZNF469 cause brittle cornea syndrome by influencing extracellular matrix development and maintenance","volume":"48","author":"Wright","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.exer.2019.107815_bib103","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1080\/13816810.2018.1474368","article-title":"Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease","volume":"39","author":"Yahalom","year":"2018","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.exer.2019.107815_bib104","doi-asserted-by":"crossref","first-page":"256","DOI":"10.3928\/01913913-20080701-08","article-title":"Aniridia with congenital glaucoma","volume":"45","author":"Yi","year":"2008","journal-title":"J. Pediatr. Ophthalmol. Strabismus"},{"key":"10.1016\/j.exer.2019.107815_bib105","doi-asserted-by":"crossref","first-page":"15052","DOI":"10.1038\/hgv.2015.52","article-title":"Genotype-phenotype correlation of PAX6 gene mutations in aniridia","volume":"3","author":"Yokoi","year":"2016","journal-title":"Hum Genome Var"},{"key":"10.1016\/j.exer.2019.107815_bib106","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.omtn.2018.08.018","article-title":"Protecting Pax6 3' UTR from MicroRNA-7 partially restores PAX6 in islets from an aniridia mouse model","volume":"13","author":"Yongblah","year":"2018","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.exer.2019.107815_bib107","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1002\/humu.22907","article-title":"Variants in TRIM44 cause aniridia by impairing PAX6 expression","volume":"36","author":"Zhang","year":"2015","journal-title":"Hum. Mutat."}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483519305123?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483519305123?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T05:01:18Z","timestamp":1757998878000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483519305123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":106,"alternative-id":["S0014483519305123"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2019.107815","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current\/emerging therapies","name":"articletitle","label":"Article Title"},{"value":"Experimental Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.exer.2019.107815","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown Copyright \u00a9 2019 Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"107815"}}