Immunohistochemistry shows that retina RP1L1 is present only in the retina, and localized to the connecting cilium of rod and cone photoreceptors, indicating a pathogenic function for the RP1L1 mutation in OMD photoreceptor disturbances (Bowne et al., 2003; Akahori et al., 2010; Davidson et al., 2013; Takahashi et al., 2014). Here, RP1L1 is linked to occult macular dystrophy.