BLOC1S3 and retinitis pigmentosa 1: More recently resequencing of candidate RP genes led to the identification of a simplex RP patient homozygous for a missense substitution in CNGB1 (c.2957A>T; p.N986I) resulting in substitution of a conserved amino acid 7 codons upstream of the mutation identified by Bariel et al. and also in the CNBD [61].