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Cases were defined as expansion\u2010positive (Exp\n                      <jats:sup>+<\/jats:sup>\n                      ) if at least one CTG18.1 allele had \u2265 50 repeats. Tissue was assigned as either \u2018typical\u2019 if there were several prominent exophytic or buried guttae or \u2018not typical\u2019 if there were only a few shallow guttae or no status could be confidently assigned.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In total, 72 unrelated corneal specimens (43 from endothelial keratoplasty and 29 from penetrating keratoplasty) with corresponding genetic data were analysed. We assigned a \u2018typical\u2019 histopathological guttae appearance to 88% (53\/60) of Exp\n                      <jats:sup>+<\/jats:sup>\n                      and 83% (10\/12) of Exp\n                      <jats:sup>\u2212<\/jats:sup>\n                      cases. No significant difference was observed between the proportion of \u2018typical\u2019 and \u2018not typical\u2019 assignments within these genotypically distinct groups (Fisher's exact test; odds ratio [OR], 1.5; 95% CI: 0.14\u20139.7;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.6393). Without adjustment for multiple testing, \u2018not typical\u2019 samples were more likely to be from males (7\/9 vs. 17\/63; OR, 0.11; 95% CI: 0.01\u20130.65;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.005017) and more frequently from cases with coexisting keratoconus (4\/9 vs. 3\/63; OR\u2009=\u20090.07; 95% CI: 0.01\u20130.54;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.004208).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Histopathological guttae appearance was not found to correlate with CTG18.1 expansion status. However, male sex or coexisting keratoconus was more frequently associated with histology categorised as \u2018not typical\u2019.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/aos.70014","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T12:22:29Z","timestamp":1760444549000},"page":"333-341","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Exploring the histopathological signature of repeat\u2010mediated Fuchs endothelial corneal dystrophy"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8105-8973","authenticated-orcid":false,"given":"Anne\u2010Marie S.","family":"Kladny","sequence":"first","affiliation":[{"name":"UCL Institute of Ophthalmology  London UK"},{"name":"Eye Centre Albert\u2010Ludwigs\u2010University of Freiburg  Freiburg 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