Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Siyin LiuAmanda N SadanKirithika MuthusamyChristina ZarouchliotiJana JedlickovaNikolas PontikosCaroline ThaungAlison J HardcastleMagdalena NetukovaPavlina SkalickaLubica DudakovaCatey BunceStephen J TuftAlice E DavidsonPetra LiskovaPublished in: Acta ophthalmologica (2023)
The KC + FECD 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 + FECD and age-matched controls with isolated FECD.