The SLC4A11 gene (MIM: 610206), associated with autosomal recessive congenital hereditary endothelial dystrophy (CHED; MIM: 217700), was detected in the multiplex family GEL-007, two affected individuals had a homozygous missense variant (c.1343G>A p.(Gly448Asp)). The gene discussed is SLC4A11; the disease is congenital hereditary endothelial dystrophy of cornea.