Since the most frequent forms of OCA in Caucasian population are OCA1, OCA2, and OCA4, we performed mutation screening of the TYR, OCA2, and SLC45A2 genes to promote the understanding of disease heterogeneity, to assess the independent and cumulative contributions of these three genes to the disease development, and to compare relative and cumulative frequencies of disease variants in a representative Hungarian OCA population. This evidence concerns the gene TYR and oculocutaneous albinism.