{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:40:18Z","timestamp":1791333618329,"version":"4.3.1"},"reference-count":22,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: PAX6 haploinsufficiency-related congenital aniridia is a panocular disease affecting multiple ocular structures. The aim of this study was to determine the biometric properties of eyes affected by PAX6 haploinsufficiency-related classical congenital aniridia using a non-contact device. Methods: Fifty-nine eyes from 31 aniridia patients (48.39% male; mean age 27.0 \u00b1 17.65 years, range 7\u201356) and 99 eyes from 50 healthy controls (44.00% male; mean age 28.56 \u00b1 21.73 years, range 4\u201381) were examined using the Movu biometer (Argos Inc.). Axial length (AL), corneal diameter (CD), central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), pupil size (PS), and mean keratometric value (K-mean) were measured. Results: Linear mixed-effects models showed significant effects of diagnosis on CCT (\u03b2 = 182.39, p &lt; 0.001), CD (\u03b2 = \u22120.55, p = 0.02), and K-mean (\u03b2 = \u22121.10, p = 0.03), while axial length was associated with gender (\u03b2 = \u22120.90, p = 0.03). Mann\u2013Whitney testing showed no interocular asymmetry (all p \u2265 0.07; \u03b72 \u2264 0.04) overall. Conclusions: PAX6-related congenital aniridia eyes are associated with increased CCT and reduced CD, and K-mean, while AL appears to be mainly influenced by gender. The absence of marked interocular asymmetry suggests relatively symmetrical bilateral involvement. These differences should be considered in corneal and lens surgery planning.<\/jats:p>","DOI":"10.3390\/jcm15051805","type":"journal-article","created":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T11:22:57Z","timestamp":1772191377000},"page":"1805","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Impact of PAX6-Related Congenital Aniridia on Corneal Diameter, Central Corneal Thickness and Keratometry"],"prefix":"10.3390","volume":"15","author":[{"given":"Kitti","family":"Korm\u00e1nyos","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9la","family":"Cs\u00e1k\u00e1ny","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1542-6592","authenticated-orcid":false,"given":"M\u00e1ria","family":"Csidey","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"},{"name":"Heim P\u00e1l National Pediatric Institute, 1089 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annam\u00e1ria","family":"N\u00e1ray","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"},{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, 66424 Homburg\/Saar, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaudia","family":"K\u00e9ki-Kov\u00e1cs","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5503-0595","authenticated-orcid":false,"given":"Orsolya","family":"N\u00e9meth","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Markusovszky University Teaching Hospital, 9700 Szombathely, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krisztina","family":"Kn\u00e9zy","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1ria","family":"Bausz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Szigeti","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Csorba","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorottya","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Corton","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital (IIS-FJD), Universidad Aut\u00f3noma de Madrid (UAM), 28049 Madrid, Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0316-6212","authenticated-orcid":false,"given":"K\u00e1lm\u00e1n","family":"Tory","sequence":"additional","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory, Hungarian Academy of Sciences, 1051 Budapest, Hungary"},{"name":"1st Department of Pediatrics, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7834-8854","authenticated-orcid":false,"given":"Eszter","family":"J\u00e1vorszky","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zolt\u00e1n Zsolt","family":"Nagy","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achim","family":"Langenbucher","sequence":"additional","affiliation":[{"name":"Department of Experimental Ophthalmology, Saarland University, 66424 Homburg\/Saar, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Maka","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00f3ra","family":"Szentm\u00e1ry","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"},{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, 66424 Homburg\/Saar, Germany"},{"name":"Department of Experimental Ophthalmology, Saarland University, 66424 Homburg\/Saar, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,2,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.survophthal.2017.09.004","article-title":"The genetics of congenital aniridia-a guide for the ophthalmologist","volume":"63","author":"Landsend","year":"2018","journal-title":"Surv. Ophthalmol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/ng1192-232","article-title":"Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene","volume":"2","author":"Glaser","year":"1992","journal-title":"Nat. Genet."},{"key":"ref_3","first-page":"4439","article-title":"Two Paired Box6 mutations identified in Chinese patients with classic congenital aniridia and cataract","volume":"18","author":"Lin","year":"2018","journal-title":"Mol. Med. Rep."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2280","DOI":"10.4103\/ijo.IJO_2255_21","article-title":"Clinical and molecular aspects of congenital aniridia. A review of current concepts","volume":"70","author":"Tibrewal","year":"2022","journal-title":"Indian J. Ophthalmol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1038\/ejhg.2012.100","article-title":"Aniridia","volume":"20","author":"Hingorani","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.exer.2016.04.017","article-title":"PAX6: 25th anniversary and more to learn","volume":"156","author":"Cvekl","year":"2017","journal-title":"Exp. Eye Res."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1556\/650.2023.32697","article-title":"Congenitalis aniridia\u2013egy spektrumbetegs\u00e9g magyarorsz\u00e1gi adatai","volume":"164","author":"Csidey","year":"2023","journal-title":"Orv. Hetil."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.biocel.2004.09.002","article-title":"Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy","volume":"37","author":"Ramaesh","year":"2005","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1016\/j.ajo.2003.09.038","article-title":"Markedly increased central corneal thickness: An unrecognized finding in congenital aniridia","volume":"137","author":"Brandt","year":"2004","journal-title":"Am. J. Ophthalmol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ophtha.2019.09.034","article-title":"PAX6 mutational status determines aniridia-associated keratopathy phenotype","volume":"127","author":"Lagali","year":"2020","journal-title":"Ophthalmology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1007\/s00347-014-3061-9","article-title":"Stage-related therapy of congenital aniridia","volume":"111","author":"Seitz","year":"2014","journal-title":"Ophthalmologe"},{"key":"ref_12","first-page":"381","article-title":"The Effect of Lens Properties on Visual Acuity, Aniridia Associated Keratopathy and Secondary Glaucoma in Congenital Aniridia Subjects","volume":"50","author":"Fries","year":"2024","journal-title":"Curr. Eye Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e165","DOI":"10.1111\/aos.12225","article-title":"Cataract development in Norwegian patients with congenital aniridia","volume":"92","author":"Eden","year":"2014","journal-title":"Acta. Ophthalmol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/0039-6257(84)90184-X","article-title":"Aniridia. A review","volume":"28","author":"Nelson","year":"1984","journal-title":"Surv. Ophthalmol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/nar\/26.1.259","article-title":"The Human PAX6 Mutation Database","volume":"26","author":"Brown","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Wang, J.D., Zhang, J.S., Xiong, Y., Li, J., Li, X.X., Liu, X., Zhao, J., Tsai, F.F., Vishal, J., and You, Q.S. (2017). Congenital aniridia with cataract: Case series. BMC. Ophthalmol., 17.","DOI":"10.1186\/s12886-017-0503-6"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2184","DOI":"10.1016\/j.ophtha.2013.04.007","article-title":"Reproducibility of a long-range swept-source optical coherence tomography ocular biometry system and comparison with clinical biometers","volume":"120","author":"Grulkowski","year":"2013","journal-title":"Ophthalmology"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"115","DOI":"10.3928\/1081597X-20190109-01","article-title":"Comprehensive Comparison of Axial Length Measurement with Three Swept-Source OCT-Based Biometers and Partial Coherence Interferometry","volume":"35","author":"Huang","year":"2019","journal-title":"J. Refract. Surg."},{"key":"ref_19","doi-asserted-by":"crossref","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":"Lagali","year":"2020","journal-title":"Ocul. Surf."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"108371","DOI":"10.1016\/j.exer.2020.108371","article-title":"Morphometric analysis of the lens in human aniridia and mouse Small eye","volume":"203","author":"Voskresenskaya","year":"2021","journal-title":"Exp. Eye Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"291","DOI":"10.3341\/kjo.2010.24.5.291","article-title":"Clinical features of Korean patients with congenital aniridia","volume":"24","author":"Park","year":"2010","journal-title":"Korean J. Ophthalmol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S0886-3350(99)00432-0","article-title":"Black diaphragm aniridia intraocular lens for congenital aniridia: Long-term follow-up","volume":"26","author":"Reinhard","year":"2000","journal-title":"J. Cat. Refr. Surg."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/5\/1805\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T11:31:12Z","timestamp":1772191872000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/5\/1805"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,27]]},"references-count":22,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2026,3]]}},"alternative-id":["jcm15051805"],"URL":"https:\/\/doi.org\/10.3390\/jcm15051805","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,27]]}}}