In children glaucoma is generally caused by congenital malformations of anterior segment of the eye. Mutations in genes involved in key processes of eye development are usually implicated in these forms. However, to date, only few of the genes responsible for these Mendelian forms of the disease, are known. Exome sequencing has proven very helpful in identifying underlying causes of this very heterogeneous condition, which itself paved the way to better describe the phenotypic spectrum associated with these disorders. The group has made several contributions to this endeavor including Mauri et al. 2016, Souma et al. 2016, Pasutto et al. 2015, Pasutto et al., 2010.