RP1L1 and occult macular dystrophy: The RP1-like protein 1 (RP1L1) gene (OMIM 608581) is the gene most commonly associated with OMD (Davidson et al., 2013), and many mutations in RP1L1 have been reported, such as p.Arg45Trp (Akahori et al., 2010; Hayashi et al., 2012; Tsunoda et al., 2012; Ahn et al., 2013; Okuno et al., 2013), p.S1199P (Takahashi et al., 2014), p.S1199C (Kabuto et al., 2012), p.W960R (Akahori et al., 2010), p.Q2311P (Ahn et al., 2013), and p.S676C (Ahn et al., 2013).