In our current study, compound heterozygous mutations in TYR (c.832C>T and c.929_930insC, which resulted in p.Arg278* and p.Arg311Lysfs*7, respectively) were identified in the two patients who both showed complete lack of melanin formation in the skin, hair, and eyes, accompanied by nystagmus and photophobia. Here, TYR is linked to Photophobia.