SLC4A11 and congenital hereditary endothelial dystrophy of cornea: In family GEL-007, the proband and her sister were found to harbour a likely pathogenic homozygous missense variant in SLC4A11 (c.1343G>A p.(Gly448Asp)), a gene known to be associated with autosomal recessive congenital hereditary endothelial dystrophy (CHED).