In the mother and son (both with KC), a missense variant p.(Gly1798Arg) in heterozygosis was detected in the COL6A5 gene (OMIM: #611916), which codes for the α-5 chain of collagen VI, which constitutes one of the collagens of the ECM of the corneal stroma. This evidence concerns the gene COL6A5 and keratoconus.