The first was a missense mutation (c.1865 T > C, p.Leu622Pro) in exon 18 of OCA2 gene, the second was a gross deletion with exons 17–21 encompassed introns in OCA2 gene, and the third was a previously reported mutaiton (c.4805G > A, p.Arg1602Gln) in exon 35 of MYO7A gene with Usher Syndrome (US) [14], which clinically characterized with deafness and gradual vision loss. The gene discussed is OCA2; the disease is deafness.