A multicentre study of 907 patients with FH found that 67% of individuals had albinism caused by variants in GPR143, OCA2, TYR and HPS1 genes, followed by 21.8% with PAX6, 6.8% with SLC38A8 and 3.5% with FRMD7 variants [16]. The gene discussed is OCA2; the disease is albinism.