In humans, mutations in SLC4A11 are associated with congenital hereditary endothelial dystrophy (CHED), corneal dystrophy and perceptive deafness (Harboyan syndrome) and late onset Fuchs endothelial corneal dystrophy (FECD) (Desir et al., 2007). Here, SLC4A11 is linked to Fuchs endothelial corneal dystrophy.