Although mutations in coding regions nor copy number alterations of GPR143 or other candidate genes were not detected, detailed analysis of intronic sequences flanking target exons presented here show that ocular albinism in this family may be caused by the deep intronic mutation c.659-131 T > G in GPR143 (NM_000273.2) intron 5 that creates a cryptic donor splice site. The gene discussed is GPR143; the disease is ocular albinism.