Family Mutation  Exon  DNA Protein  Remark  autosomal recessive retinitis pigmentosa  RP94  Ho  2  c.93_105del13ins3  p.His31GlnfsX47  Novel  RP494  Ho  2  c.469delG  p.Val157TrpfsX16  Novel  autosomal dominant retinitis pigmentosa  PHRC135  He  4 c.2018delA  p.Lys673ArgfsX9  Novel RP206 He 4 c.2035C>T p.Gln679X Recurrent  PHRC116  He  4 c.2035C>T  p.Gln679X Recurrent  RP785 He  4 c.2055T>G  p.Tyr685X  Novel  RP215 He  4  c.2169delA  p.Ile725TyrfsX13  Novel  RP263 He  4  c.2169delA  p.Ile725TyrfsX13  Novel RP287 He 4 c.2243delA p.Asn748IlefsX15 Novel PHRC115 He 4 c.2585C>A p.Ser862X Novel PHRC132 He 4 c.2732C>G p.Ser911X Recurrent He: heterozygote, Ho: homozygote

Table 1: RP1 mutations found in the present study.