In conclusion, we identified the rare missense mutation E150K in the RHO gene in a Turkish consanguineous RD family, together with non-coding variants impairing cis-regulatory activity of SAMD7-associated CBRs, which might contribute to the phenotype observed in this family, characterized by a specific unusual pigmentation, in addition to classic RP characteristics. Here, SAMD7 is linked to retinitis pigmentosa 1.