TYR and pathologic nystagmus: 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.