The diagnosis of ARS was confirmed by a DNA sequencing genetic test in the sisters that indicated the presence of a genome imbalance in the form of a pathogenic extensive deletion covering a fragment of exon 1 and the entire sequence of the untranslated region 3′ (3′UTR) of the FOXC1 gene present in one allele of this gene (in a heterozygous system). The gene discussed is FOXC1; the disease is Axenfeld-Rieger syndrome.