Among the recurrent variants identified in this study, some variants such as c.929dupC and c.230_232dupGGG in TYR and c.808–3C > G in OCA2 were common in OCA cases from East Asian regions, while these variants have seldom been reported in OCA cases from the Western population, even in a large cohort of 990 index patients with albinism (Lasseaux et al., 2018). The gene discussed is TYR; the disease is albinism.