RP1L1 and retinitis pigmentosa 1: The mutations were a homozygous missense mutation with prediction of benign and tolerated by PolyPhen-2 and SIFT, respectively, and a homozygous premature termination mutation in RP1L1. These two patients with recessive RP had typical signs of RP including intraretinal bone spicule pigment deposits in the periphery and attenuated retinal vessels.