ArticleActa ophthalmologica2026
Exploring the histopathological signature of repeat-mediated Fuchs endothelial corneal dystrophy.
Article in Acta ophthalmologica, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeTo determine the histological differences between Fuchs endothelial corneal dystrophy (FECD) cases with and without the most common genetic risk factor, expansion of a CTG repeat (CTG18.1) within the TCF4 gene.
methodsFormalin-fixed paraffin-embedded corneal tissues were compared retrospectively, and CTG18.1 status was determined from blood-derived gDNA. Cases were defined as expansion-positive (Exp
resultsIn total, 72 unrelated corneal specimens (43 from endothelial keratoplasty and 29 from penetrating keratoplasty) with corresponding genetic data were analysed. We assigned a 'typical' histopathological guttae appearance to 88% (53/60) of Exp
conclusionHistopathological 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 'not typical'.
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