Several SLC4A11 homozygous or compound heterozygous mutations are associated with congenital hereditary endothelial dystrophy (CHED), a rare corneal endothelial dystrophy that can manifest in infancy [8,21,22,23,24,25,26]. The gene discussed is SLC4A11; the disease is congenital hereditary endothelial dystrophy of cornea.