Table 1

Genes implicated in retinitis pigmentosa (or Leber congenital amaurosis which shows phenotypic overlap) arranged by inheritance pattern

Autosomal dominantAutosomal recessiveX linked
CA4RP9ABCA4NRLRPGR
CRXSEMA4AAIPL1PDE6ARP2
FSCN2SNRNP200*C2ORF71*PDE6B
GUCA1BTOPORSCDHR1PRCD
IMPDH1CEP290PROM1
KLHL7*CERKLRBP3*
NR2E3CNGA1RD3
PRPF3CNGB1RGR
PRPF8CRB1RLBP1
PRPF31EYS*RPE65
PRPH2GUCY2DRPGRIP1
RDH12IDH3BSAG
RHOLCA5SPATA7*
ROM1LRATTULP1
RP1MERTKUSH2A
  • * Genes discovered after the design of the sequence capture array (November 2008) and therefore not included.