Table 1.

Genes reported to cause autosomal dominant retinitis pigmentosa pigmentosa (in chromosomal order)

	Symbol	Gene/protein	Chromosome	Alternate diseases	Function
1	RPE65	Retinal pigment epithelium-specific 65 kD protein	1p31.2	Recessive retinitis pigmentosa; recessive Leber congenital amaurosis	Visual cycle
2	PRPF3	Pre-mRNA processing factor 3	1q21.2		RNA processing
3	SEMA4A	Semaphorin 4A	1q22	Dominant cone–rod dystrophy	Neuronal or immune response
4	SNRNP200	Small nuclear ribonucleoprotein 200 kDa (U5)	2q11.2		RNA processing
5	RHO	Rhodopsin	3q22.1	Dominant congenital stationary night blindness; recessive retinitis pigmentosa	Phototransduction, outer segment membrane structure
6	GUCA1B	Guanylate cyclase activating protein 1B	6p21.1	Dominant macular dystrophy	Phototransduction
7	PRPH2	Peripherin 2	6p21.1	Dominant macular dystrophy; digenic retinitis pigmentosa with ROM1; dominant adult vitelliform macular dystrophy; dominant cone–rod dystrophy; dominant central areolar choroidal dystrophy	Outer segment membrane structure
8	RP9	RP9 protein or PIM1-kinase associated protein 1	7p14.3		Unknown
9	KLHL7	Kelch-like 7 protein (Drosophila)	7p15.3		Ubiquitination pathway
10	IMPDH1	Inosine monophosphate dehydrogenase 1	7q32.1	Dominant Leber congenital amaurosis	Purine or amino acid synthesis
11	RP1	RP1 protein	8q12.1	Recessive retinitis pigmentosa	Ciliary structure/function
12	TOPORS	Topoisomerase I binding arginine/serine rich protein	9p21.1		Ciliary structure/function
13	PRPF4	Pre-mRNA processing factor 4	9q32		RNA processing
14	HK1	Hexokinase 1	10q22.1		Glucose metabolism
15	BEST1	Bestrophin 1	11q12.3	Dominant vitreoretinochoroidopathy; recessive bestrophinopathy; recessive retinitis pigmentosa; dominant macular dystrophy, Best type	Visual cycle and chloride channel
16	ROM1	Retinal outer segment membrane protein 1	11q12.3	Digenic retinitis pigmentosa with PRPH2	Outer segment membrane structure
17	NRL	Neural retina lucine zipper	14q11.2	Recessive retinitis pigmentosa	Transcription factor
18	RDH12	Retinol dehydrogenase 12	14q24.1	Recessive Leber congenital amaurosis with severe childhood retinal dystrophy	Visual cycle
19	NR2E3	Nuclear receptor subfamily 2 group E3	15q23	Recessive retinitis pigmentosa in Portuguese Crypto Jews; recessive Goldmann–Favre syndrome; recessive enhanced S-cone syndrome (ESC); combined dominant and recessive retinopathy	Transcription factor
20	PRPF8	Pre-mRNA processing factor 8	17p13.3		RNA processing
21	CA4	Carbonic anhydrase IV	17q23.2		Retinal capillary structure/function
22	FSCN2	Retinal fascin homolog 2, actin bundling protein	17q25.3	Dominant macular dystrophy	Ciliary structure/function
23	CRX	Cone–rod otx-like photoreceptor homeobox transcription factor	19q13.32	Recessive, dominant and de novo Leber congenital amaurosis; dominant cone–rod dystrophy	Transcription factor
24	PRPF31	Pre-mRNA processing factor 31	19q13.42		RNA processing
25	PRPF6	Pre-mRNA processing factor 6	20q13.33		RNA processing

References as in RetNet, https://sph.uth.edu/retnet/, and Sullivan et al. 2014 (HK1).