{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:38:06Z","timestamp":1787312286008,"version":"build-2736575974"},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T00:00:00Z","timestamp":1678147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To characterise the phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy (KC\u2009+\u2009FECD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We recruited 20 patients with concurrent KC\u2009+\u2009FECD for a retrospective observational case series from the United Kingdom and the Czech Republic. We compared eight parameters of corneal shape (Pentacam, Oculus) with two groups of age\u2010matched controls who had either isolated keratoconus (KC) or isolated FECD. We genotyped probands for an intronic triplet\n                      <jats:italic>TCF4<\/jats:italic>\n                      repeat expansion (CTG18.1) and the\n                      <jats:italic>ZEB1<\/jats:italic>\n                      variant c.1920G &gt;T p.(Gln640His).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The median age at diagnosis of patients with KC\u2009+\u2009FECD was 54 (interquartile range 46 to 66) years, with no evidence of KC progression (median follow\u2010up 84\u2009months, range 12 to 120\u2009months). The mean (standard deviation (SD)) of the minimum corneal thickness, 493 (62.7)\u00a0\u03bcm, was greater than eyes with KC, 458 (51.1)\u00a0\u03bcm, but less than eyes with FECD, 590 (55.6)\u00a0\u03bcm. Seven other parameters of corneal shape were more like KC than FECD. Seven (35%) probands with KC\u2009+\u2009FECD had a\n                      <jats:italic>TCF4<\/jats:italic>\n                      repeat expansion of \u226550 compared to five controls with isolated FECD. The average of the largest\n                      <jats:italic>TCF4<\/jats:italic>\n                      expansion in cases with KC\u2009+\u2009FECD (46 repeats, SD 36 repeats) was similar to the age\u2010matched controls with isolated FECD (36 repeats, SD 28 repeats;\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u20090.299). No patient with KC\u2009+\u2009FECD harboured the\n                      <jats:italic>ZEB1<\/jats:italic>\n                      variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The KC\u2009+\u2009FECD phenotype is consistent with KC but with superimposed stromal swelling from endothelial disease. The proportion of cases with a TCF4 expansion is similar in concurrent KC\u2009+\u2009FECD and age\u2010matched controls with isolated FECD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/aos.15654","type":"journal-article","created":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T02:49:59Z","timestamp":1678243799000},"page":"679-686","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2684-4212","authenticated-orcid":false,"given":"Siyin","family":"Liu","sequence":"first","affiliation":[{"name":"Manchester Royal Eye Hospital Manchester University NHS Foundation Trust  Manchester UK"},{"name":"UCL Institute of Ophthalmology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda 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