Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive 
disorders resulting from mutations of the tyrosinase (TYR) gene and presents 
with either complete or partial absence of pigment in the skin, hair and eyes 
due to a defect in an enzyme involved in the production of melanin. In this 
study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 
healthy individuals were examined using PCR-sequencing. Additionally, in order 
to predict the possible effects of new mutations on the structure and function 
of tyrosinase, these mutations were analyzed by SIFT, PolyPhen and I-Mutant 2 
software. Here, two new pathogenic p.C89S and p.H180R mutations were detected in 
two OCA1 patients. Moreover, the R402Q and S192Y variants, which are common 
non-pathogenic polymorphisms, were detected in 17.5% and 35% of the patients, 
respectively. The outcome of this study has extended the genotypic spectrum of 
OCA1 patients, which paves the way for more efficient carrier detection and 
genetic counseling.