Mutations in the USH2A gene are the most common cause of Usher syndrome type I (Aller et al., 2006; Baux et al., 2007; DePristo et al., 2011) and are also a common cause of non-syndromic RP (McGee et al., 2010; Vaché et al., 2012). The gene discussed is USH2A; the disease is retinitis pigmentosa 1.