Figure 1. Frequency of mutations in autosomal dominant retinitis pigmentosa genes in American/Western European populations

Currently, mutations can be identified in approximately 58% of families with adRP [4,5]. The remaining percentage is attributed to genes not yet identified and to mutations in known genes that are not detectable by existing testing strategies. Gene abbreviations: rhodopsin (RHO); retinal degeneration slow (RDS); pre-mRNA processing factor 31 homolog (PRPF31); retinitis pigmentosa 1 (RP1); pre-mRNA processing factor 8 homolog (PRPF8); inosine monophosphate dehydrogenase 1 (IMPDH1); retinitis pigmentosa GTPase regulator (RPGR); nuclear receptor subfamily 2, group E, member 3 (NR2E3); cone-rod otx-like photoreceptor homeobox transcription factor (CRX); retinal outer segment membrane protein 1 (ROM1).