Homozygous missense variants cause approximately half of SLC4A11-related disease [95], and both families with congenital glaucoma whose variants have been reported had homozygous missense mutations; these were c.1343G>A p.(Gly448Asp) and c.2024A>C p.(Glu657Ala), respectively [32,46]. The gene discussed is SLC4A11; the disease is congenital glaucoma.