To date, the most relevant mutation found in SOD1 and related to KC is a 7-bp deletion, c.169+50delTAAACAG, located in the intron 2 of SOD1, which may interfere with the splicing process, generating 2 transcript variants which result in non-functional SOD1 proteins [25, 32, 33]. The gene discussed is SOD1; the disease is keratoconus.