Table 2.

Genes Associated with Autosomal Dominant Retinitis Pigmentosa (adRP)

GeneEstimated Proportion of adRP Attributed to Mutations in This GeneProteinOMIMLinks to RetNet Database 1
RHO20%-30% 2Rhodopsin180380, 613731RetNet
PRPF315%-10% 2U4/U6 small nuclear ribonucleoprotein Prp31600138, 606419RetNet
PRPH25%-10% 2Peripherin-2179605, 608133 RetNet
RP13%-4% 2Oxygen-regulated protein 1 180100, 603937RetNet
IMPDH12%-3% 2Inosine-5'-monophosphate dehydrogenase 1146690, 180105, RetNet
PRPF82%-3% 2Pre-mRNA-processing-splicing factor 8600059, 607300RetNet
KLHL71%-2%Kelch-like protein 7611119, 612943RetNet
NR2E31%-2% 2Photoreceptor-specific nuclear receptor 604485, 611131RetNet
CRX1% 2Cone-rod homeobox protein 120970, 602225, RetNet
PRPF31% 2U4/U6 small nuclear ribonucleoprotein Prp3601414, 607301RetNet
TOPORS1% 3E3 ubiquitin-protein ligase Topors609507, 609923RetNet
CA4Rare 2Carbonic anhydrase 4600852, 114760RetNet
NRLRare 2Neural retina-specific leucine zipper protein162080, 613750RetNet
ROM1Rare 2Retinal outer segment membrane protein 1180721RetNet
RP9Rare 2Retinitis pigmentosa 9 protein180104, 607331RetNet
RDH12UnknownRetinol dehydrogenase 12608830, 612712RetNet
SNRNP200UnknownU5 small nuclear ribonucleoprotein 200 kDa helicase601664, 610359RetNet
AIPL1Rare 4Aryl-hydrocarbon-interacting protein-like 1604392RetNet
BEST1Rare 5Bestrophin- 1607854, 613194RetNet
PRPF6Rare 6Pre-mRNA-processing factor 6613979, 613983RetNet
RPE65Rare 7Retinoid isomerohydrolase180069, 613794RetNet
linked to 6q23; gene not identified Linkage in one familynot identified614494RetNet
GUCA1B4%-5% in Japan; rare in UKGuanylyl cyclase-activating protein 2602275, 613827RetNet
FSCN23% of Japanese with adRP; otherwise rare 2Fascin-2 607643, 607921RetNet
SEMA4A3%-4% in PakistanSemaphorin-4A607292, 610282 RetNet

Data are compiled from the following standard references: gene symbol from HGNC; OMIM numbers from OMIM; protein name from UniProt.

See Retinitis Pigmentosa: Phenotypic Series to view genes associated with this phenotype in OMIM.

1. For additional information including allelic disorders (i.e., other phenotypes associated with mutation in a given gene) see RetNet.

2. Daiger et al [2008]

3. Bowne et al [2008]

4. Sohocki et al [2000]

5. Davidson et al [2009]

6. Tanackovic et al [2011]

7. Bowne et al [2011]

From: Retinitis Pigmentosa Overview

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