Figure 3 of Bowne, Mol Vis 2008; 14:922-927.


Figure 3. Frequency of autosomal dominant retinitis pigmentosa mutations found in the autosomal dominant retinitis pigmentosa cohort by gene. Gene abbreviations: rhodopsin (RHO); peripherin 2 (PRPH2); 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); pre-mRNA processing factor 3 homolog (PRPF3); topoisomerase I-binding arginine-serine rich gene (TOPORS); cone-rod otx-like photoreceptor homeobox transcription factor (CRX); retinal outer segment membrane protein 1 (ROM1). Testing identified mutations in 60% of our autosomal dominant retinitis pigmentosa cohort of 215 families. Mutations have yet to be identified in the remaining 40%.