Prior to 2007, XLOA in the Chinese population was infrequently reported [2], and to date, only 11 mutations of GPR143 have been described in the Chinese population including 3 missense mutations [2,7,10], 1 splicing mutation [7], 6 deletion mutations [7,11,12], and 1 duplication mutation [13]. This evidence concerns the gene GPR143 and X-linked recessive ocular albinism.