{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T03:26:22Z","timestamp":1771644382228,"version":"3.50.1"},"reference-count":26,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,1,30]],"date-time":"2021-01-30T00:00:00Z","timestamp":1611964800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["RD16\/0008\/0012"],"award-info":[{"award-number":["RD16\/0008\/0012"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>The aim of this study was to investigate whether a different and abnormal corneal profile is present in Down syndrome (DS) by personalized three-dimensional (3D) modelling. This single-centre cross-sectional study included 43 patients with DS (43 eyes) and 58 age-sex-matched control subjects (58 eyes) with normal karyotype and topography. Refraction, central corneal thickness (CCT), aberrations (high-order, coma and spherical), asphericity and morphogeometric\/volumetric parameters based on a 3D corneal model that was generated from raw topographical data were evaluated. Deviation of anterior\/posterior apex (Dapexant\/Dapexpost) and thinnest point (Dmctant\/Dmctpost) from corneal vertex, anterior\/posterior surface area (Aant\/Apost), sagittal area passing through the anterior\/posterior apex (Aapexant\/Aapexpost) and thinnest point (Amctpost), total corneal volume (Vtotal) and volumetric progression for each 0.05 mm step of the radius value centred to the thinnest point (VOLMCT) and anterior\/posterior apex (VOLAAP\/VOLPAP) comprised the morphogeometric\/volumetric parameters. In the DS group, 58.1% of the eyes presented abnormal topography. High-order and coma aberrations, asphericity, Dapexant, Aant, Apost and Aapexant were significantly higher, whereas CCT, Aapexpost, Amctpost, Vtotal, VOLAAP, VOLPAP and VOLMCT were lower in the DS group than in the control group (p &lt; 0.05). Dapexpost did not differ between the groups (p &gt; 0.05). This study demonstrates that corneas of the subjects with DS are different and more aberrated than those of normal age- and sex-matched non-DS controls. Anterior corneal apex appears to be displaced in DS even with normal topography, while posterior apex seems stable although topography is abnormal. These findings may help to modify our approach in the diagnosis of keratopathy in subjects with DS.<\/jats:p>","DOI":"10.3390\/jpm11020082","type":"journal-article","created":{"date-parts":[[2021,1,30]],"date-time":"2021-01-30T06:22:20Z","timestamp":1611987740000},"page":"82","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Evidence of a Down Syndrome Keratopathy: A Three-Dimensional (3-D) Morphogeometric and Volumetric Analysis"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6325-7485","authenticated-orcid":false,"given":"Ibrahim","family":"Toprak","sequence":"first","affiliation":[{"name":"Department of Research and Development, VISSUM, 03016 Alicante, Spain"},{"name":"Department of Ophthalmology, Faculty of Medicine, Pamukkale University, Denizli 20160, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8391-0688","authenticated-orcid":false,"given":"Francisco","family":"Cavas","sequence":"additional","affiliation":[{"name":"Department of Structures, Construction and Graphical Expression, Technical University of Cartagena, 30202 Cartagena, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Vega","sequence":"additional","affiliation":[{"name":"Department of Research and Development, VISSUM, 03016 Alicante, Spain"},{"name":"Cornea, Cataract and Refractive Surgery Department, VISSUM, 03016 Alicante, Spain"},{"name":"Division of Ophthalmology, Department of Pathology and Surgery, Faculty of Medicine, Miguel Hern\u00e1ndez University, 03016 Alicante, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1329-5093","authenticated-orcid":false,"given":"Jos\u00e9 S.","family":"Vel\u00e1zquez","sequence":"additional","affiliation":[{"name":"Department of Structures, Construction and Graphical Expression, Technical University of Cartagena, 30202 Cartagena, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2666-3366","authenticated-orcid":false,"given":"Jorge L.","family":"Alio del Barrio","sequence":"additional","affiliation":[{"name":"Department of Research and Development, VISSUM, 03016 Alicante, Spain"},{"name":"Cornea, Cataract and Refractive Surgery Department, VISSUM, 03016 Alicante, Spain"},{"name":"Division of Ophthalmology, Department of Pathology and Surgery, Faculty of Medicine, Miguel Hern\u00e1ndez University, 03016 Alicante, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge L.","family":"Alio","sequence":"additional","affiliation":[{"name":"Cornea, Cataract and Refractive Surgery Department, VISSUM, 03016 Alicante, Spain"},{"name":"Division of Ophthalmology, Department of Pathology and Surgery, Faculty of Medicine, Miguel Hern\u00e1ndez University, 03016 Alicante, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2344","DOI":"10.1056\/NEJMra1706537","article-title":"Down Syndrome","volume":"382","author":"Bull","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Shapiro, B.L. (2003). Down syndrome and associated congenital malformations. Adv. Down Syndr. Res., 207\u2013214.","DOI":"10.1007\/978-3-7091-6721-2_18"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1080\/09273972.2019.1699582","article-title":"Ocular alignment, media, and eyelid disorders in Down syndrome","volume":"28","author":"Makateb","year":"2019","journal-title":"Strabismus"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/S0039-6257(97)00119-7","article-title":"Keratoconus","volume":"42","author":"Rabinowitz","year":"1998","journal-title":"Surv. Ophthalmol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1001\/jamaophthalmol.2018.2373","article-title":"Corneal Morphologic Characteristics in Patients With Down Syndrome","volume":"136","author":"Alio","year":"2018","journal-title":"JAMA Ophthalmol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2418","DOI":"10.1111\/febs.12220","article-title":"New insights into the pathobiology of Down syndrome\u2014Hyaluronan synthase-2 overexpression is regulated by collagen VI\u03b12 chain","volume":"280","author":"Karousou","year":"2013","journal-title":"Febs J."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"3345","DOI":"10.1167\/iovs.05-1500","article-title":"SOD1: A Candidate Gene for Keratoconus","volume":"47","author":"Udar","year":"2006","journal-title":"Investig. Opthalmology Vis. Sci."},{"key":"ref_8","first-page":"2501","article-title":"Analysis of superoxide dismutase 1, dual-specificity phosphatase 1, and transforming growth factor, beta 1 genes expression in keratoconic and non-keratoconic corneas","volume":"19","author":"Raoofian","year":"2013","journal-title":"Mol. Vis."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/eye.2013.278","article-title":"The pathogenesis of keratoconus","volume":"28","author":"Davidson","year":"2014","journal-title":"Eye"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Asgari, S., Mehravaran, S., Fotouhi, A., Makateb, A., and Hashemi, H. (2019). Total corneal refractive power and shape in Down syndrome. Eur. J. Ophthalmol., 112067211988359.","DOI":"10.1177\/1120672119883594"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.jaapos.2012.10.020","article-title":"Corneal thickness measured by Scheimpflug imaging in children with Down syndrome","volume":"17","author":"Aslan","year":"2013","journal-title":"J. Am. Assoc. Pediatric Ophthalmol. Strabismus"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"9098","DOI":"10.1038\/s41598-020-66108-4","article-title":"Effect of Down syndrome and keratoconus on corneal density and volume: A triple comparative study","volume":"10","author":"Asgari","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"196","DOI":"10.5935\/0004-2749.20200058","article-title":"Mapping the corneal thickness and volume in patients with Down syndrome: A comparative population-based study","volume":"83","author":"Hashemi","year":"2020","journal-title":"Arq. Bras. Oftalmol."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Vega-Estrada, A., Fariselli, C., and Alio, J.L. (2020). Posterior corneal features in patients with Down syndrome and their relation with keratoconus. Br. J. Ophthalmol., 104.","DOI":"10.1136\/bjophthalmol-2019-314939"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e110249","DOI":"10.1371\/journal.pone.0110249","article-title":"Geometrical custom modeling of human cornea in vivo and its use for the diagnosis of corneal ectasia","volume":"9","year":"2014","journal-title":"PLoS ONE"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"15837","DOI":"10.1038\/s41598-017-16145-3","article-title":"Keratoconus Detection Based on a New Corneal Volumetric Analysis","volume":"7","author":"Bataille","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"e0184569","DOI":"10.1371\/journal.pone.0184569","article-title":"A new approach to keratoconus detection based on corneal morphogeometric analysis","volume":"12","author":"Bataille","year":"2017","journal-title":"PLoS ONE"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Toprak, I., Cavas, F., Vel\u00e1zquez, J.S., Alio del Barrio, J.L., and Alio, J.L. (2020). Subclinical keratoconus detection with three-dimensional (3-D) morphogeometric and volumetric analysis. Acta Ophthalmol.","DOI":"10.1111\/aos.14433"},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Alifa, R., Pi\u00f1ero, D., Vel\u00e1zquez, J., Ali\u00f3 Del Barrio, J.L., Cavas, F., and Ali\u00f3, J.L. (2020). Changes in the 3D Corneal Structure and Morphogeometric Properties in Keratoconus after Corneal Collagen Crosslinking. Diagnostics, 10.","DOI":"10.3390\/diagnostics10060397"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.jare.2020.03.012","article-title":"Morphogeometric analysis for characterization of keratoconus considering the spatial localization and projection of apex and minimum corneal thickness point","volume":"24","author":"Cavas","year":"2020","journal-title":"J. Adv. Res."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Vel\u00e1zquez-Bl\u00e1zquez, J.S., Fern\u00e1ndez-Pacheco, D.G., del Barrio, J.A., Ali\u00f3, J.L., and Cavas-Mart\u00ednez, F. (2020). Efficacy of Morpho-Geometrical Analysis of the Corneal Surfaces in Keratoconus Disease According to Moderate Visual Limitation. Lecture Notes in Mechanical Engineering, Springer International Publishing.","DOI":"10.1007\/978-3-030-41200-5_29"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Vel\u00e1zquez, J.S., Cavas, F., Ali\u00f3 Del Barrio, J., Fern\u00e1ndez-Pacheco, D.G., and Ali\u00f3, J. (2019). Assessment of the Association between In Vivo Corneal Morphogeometrical Changes and Keratoconus Eyes with Severe Visual Limitation. J. Ophthalmol., 8731626.","DOI":"10.1155\/2019\/8731626"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/s10384-020-00725-4","article-title":"Keratoconus detection by novel indices in patients with Down syndrome: A cohort population-based study","volume":"64","author":"Hashemi","year":"2020","journal-title":"Jpn. J. Ophthalmol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e140","DOI":"10.1016\/j.jaapos.2020.02.004","article-title":"Keratoconus and corneal morphology in patients with Down syndrome at a pediatric hospital","volume":"24","author":"Imbornoni","year":"2020","journal-title":"J. Am. Assoc. Pediatric Ophthalmol. Strabismus"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2","DOI":"10.4103\/0974-9233.75876","article-title":"The genetics of keratoconus","volume":"18","author":"Nowak","year":"2011","journal-title":"Middle East. Afr. J. Ophthalmol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1097\/OPX.0000000000001417","article-title":"Application of Topographical Keratoconus Detection Metrics to Eyes of Individuals with Down Syndrome","volume":"96","author":"Marsack","year":"2019","journal-title":"Optom Vis. Sci"}],"container-title":["Journal of Personalized Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4426\/11\/2\/82\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:17:31Z","timestamp":1760159851000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4426\/11\/2\/82"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,30]]},"references-count":26,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,2]]}},"alternative-id":["jpm11020082"],"URL":"https:\/\/doi.org\/10.3390\/jpm11020082","relation":{},"ISSN":["2075-4426"],"issn-type":[{"value":"2075-4426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,30]]}}}