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%.