We identified a homozygous missense variant (c.1205G>A, p.(Arg402Gln)) in TYR. In NYS-008, a possible PAX6-related phenotype was considered as the clinical diagnosis based on the history of congenital cataracts, ptosis, trans-illumination defects of the iris, reduced visual acuity and nystagmus. The gene discussed is TYR; the disease is ptosis.