ORPHA:791

Retinitis pigmentosa

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
Age of onset: Adolescent, Adult, Childhood
Status: active

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Retinitis pigmentosa
fr	Rétinite pigmentaire
de	Retinitis pigmentosa
es	Retinosis pigmentaria
it	Retinite pigmentosa
nl	Retinitis pigmentosa
pt	Retinite pigmentosa
pl	Retinopatia barwnikowa
cs	Retinitis pigmentosa
uk	Пігментний ретиніт
zh	色素性视网膜炎
tr	Retinitis pigmentoza

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	153870	BTNT		validated
OMIM	180100	BTNT		validated
OMIM	180104	BTNT		validated
OMIM	180105	BTNT		validated
OMIM	180210	BTNT		validated
OMIM	268000	E		validated
OMIM	268025	BTNT		validated
OMIM	268060	BTNT		validated
OMIM	300029	BTNT		validated
OMIM	300155	BTNT		validated
OMIM	300424	BTNT		validated
OMIM	300605	BTNT		validated
OMIM	312600	BTNT		validated
OMIM	312612	BTNT		validated
OMIM	400004	BTNT		validated
OMIM	600059	BTNT		validated
OMIM	600105	BTNT		validated
OMIM	600132	BTNT		validated
OMIM	600138	BTNT		validated
OMIM	600852	BTNT		validated
OMIM	601414	BTNT		validated
OMIM	601718	BTNT		validated
OMIM	602594	BTNT		validated
OMIM	602772	BTNT		validated
OMIM	604232	NTBT		validated
OMIM	604393	NTBT		validated
OMIM	606068	BTNT		validated
OMIM	607921	BTNT		validated
OMIM	608133	BTNT		validated
OMIM	608380	BTNT		validated
OMIM	609913	BTNT		validated
OMIM	609923	BTNT		validated
OMIM	610282	BTNT		validated
OMIM	610359	BTNT		validated
OMIM	610599	BTNT		validated
OMIM	611131	BTNT		validated
OMIM	612095	BTNT		validated
OMIM	612165	BTNT		validated
OMIM	612572	BTNT		validated
OMIM	612712	NTBT		validated
OMIM	612943	BTNT		validated
OMIM	613194	BTNT		validated
OMIM	613341	NTBT		validated
OMIM	613428	BTNT		validated
OMIM	613464	BTNT		validated
OMIM	613575	BTNT		validated
OMIM	613581	BTNT		validated
OMIM	613582	BTNT		validated
OMIM	613617	BTNT		validated
OMIM	613660	NTBT		validated
OMIM	613731	BTNT		validated
OMIM	613750	BTNT		validated
OMIM	613756	BTNT		validated
OMIM	613758	BTNT		validated
OMIM	613767	BTNT		validated
OMIM	613769	BTNT		validated
OMIM	613794	BTNT		validated
OMIM	613801	BTNT		validated
OMIM	613809	BTNT		validated
OMIM	613810	BTNT		validated
OMIM	613827	BTNT		validated
OMIM	613861	BTNT		validated
OMIM	613862	BTNT		validated
OMIM	613983	BTNT		validated
OMIM	614180	BTNT		validated
OMIM	614181	BTNT		validated
OMIM	614494	BTNT		validated
OMIM	614500	NTBT		validated
OMIM	615233	BTNT		validated
OMIM	615434	BTNT		validated
OMIM	615565	BTNT		validated
OMIM	615725	BTNT		validated
OMIM	615780	BTNT		validated
OMIM	615922	BTNT		validated
OMIM	616188	ND		validated
OMIM	616394	BTNT		validated
OMIM	616469	BTNT		validated
OMIM	616544	BTNT		validated
OMIM	616562	BTNT		validated
OMIM	617023	BTNT		validated
OMIM	617123	BTNT		validated
OMIM	617304	BTNT		validated
OMIM	617433	BTNT		validated
OMIM	617460	BTNT		validated
OMIM	617781	BTNT		validated
OMIM	617871	BTNT		validated
OMIM	618173	BTNT		validated
OMIM	618195	BTNT		validated
OMIM	618220	BTNT		validated
OMIM	618345	BTNT		validated
OMIM	618613	BTNT		validated
OMIM	618697	BTNT		validated
OMIM	618826	BTNT		validated
OMIM	618955	ND		validated
OMIM	619007	ND		validated
OMIM	619614	BTNT		validated
OMIM	619845	BTNT		validated
OMIM	620102	BTNT		validated
OMIM	620228	BTNT		validated
OMIM	621560	BTNT		validated
OMIM	621561	BTNT		validated
OMIM	621562	BTNT		validated
OMIM	621563	BTNT		validated
OMIM	621564	BTNT		validated
OMIM	621587	BTNT		validated
ICD-10	H35.5	NTBT	inclusion	validated
ICD-11	9B70	NTBT	index	validated
MONDO	0019200	E		validated
MeSH	D012174	E		validated
UMLS	C0035334	E		validated
GARD	5694	E		validated
MedDRA	10038914	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97966Rare ophthalmic disorder

Parents in the classifications (4):

ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders
ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
ORPHA:156171Retinal ciliopathy due to mutation in the RPGR gene
rare genetic diseases
ORPHA:156168Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
rare genetic diseases

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:251287Benign concentric annular macular dystrophy moved to · inactive

Genes

97 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CA4	Candidate gene tested in	Not yet assessed	HGNC:1375	ENSG00000167434	114760	17q23.1	carbonic anhydrase 4	20301590[PMID]
IDH3A	Candidate gene tested in	Not yet assessed	HGNC:5384	ENSG00000166411	601149	15q25.1	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	28412069[PMID]
KIZ	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15865	ENSG00000088970	615757	20p11.23	kizuna centrosomal protein	24680887[PMID]
NEK2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:7745	ENSG00000117650	604043	1q32.3	NIMA related kinase 2	24043777[PMID]
PRPF4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:17349	ENSG00000136875	607795	9q32	pre-mRNA splicing tri-snRNP complex factor PRPF4	24419317[PMID]
REEP6	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:30078	ENSG00000115255	609346	19p13.3	receptor accessory protein 6	27889058[PMID]
TMEM216	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25018	ENSG00000187049	613277	11q13.1	transmembrane protein 216	39191256[PMID]
TUB	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12406	ENSG00000166402	601197	11p15.4	TUB bipartite transcription factor	24375934[PMID]
ZNF408	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:20041	ENSG00000175213	616454	11p11.2	zinc finger protein 408	25882705[PMID]
ABCA4	Disease-causing germline mutation(s) in	Assessed	HGNC:34	ENSG00000198691	601691	1p22.1	ATP binding cassette subfamily A member 4	20301590[PMID]
AGBL5	Disease-causing germline mutation(s) in	Assessed	HGNC:26147	ENSG00000084693	615900	2p23.3	AGBL carboxypeptidase 5	26720455[PMID]
AHI1	Disease-causing germline mutation(s) in	Assessed	HGNC:21575	ENSG00000135541	608894	6q23.3	Abelson helper integration site 1	28442540[PMID]
AHR	Disease-causing germline mutation(s) in	Assessed	HGNC:348	ENSG00000106546	600253	7p21.1	aryl hydrocarbon receptor	29726989[PMID]
ARHGEF18	Disease-causing germline mutation(s) in	Assessed	HGNC:17090	ENSG00000104880	616432	19p13.2	Rho/Rac guanine nucleotide exchange factor 18	28132693[PMID]
ARL2BP	Disease-causing germline mutation(s) in	Assessed	HGNC:17146	ENSG00000102931	615407	16q13	ARF like GTPase 2 binding protein	23849777[PMID]
ARL3	Disease-causing germline mutation(s) in	Assessed	HGNC:694	ENSG00000138175	604695	10q24.32	ARF like GTPase 3	26964041[PMID]
ARL6	Disease-causing germline mutation(s) in	Assessed	HGNC:13210	ENSG00000113966	608845	3q11.2	ARF like GTPase 6	20301590[PMID]
BBS1	Disease-causing germline mutation(s) in	Assessed	HGNC:966	ENSG00000174483	209901	11q13.2	Bardet-Biedl syndrome 1	33910932[PMID]
BBS2	Disease-causing germline mutation(s) in	Assessed	HGNC:967	ENSG00000125124	606151	16q13	Bardet-Biedl syndrome 2	25541840[PMID]
BEST1	Disease-causing germline mutation(s) in	Assessed	HGNC:12703	ENSG00000167995	607854	11q12.3	bestrophin 1	20301590[PMID]
CC2D2A	Disease-causing germline mutation(s) in	Assessed	HGNC:29253	ENSG00000048342	612013	4p15.32	coiled-coil and C2 domain containing 2A	30267408[PMID]
CDHR1	Disease-causing germline mutation(s) in	Assessed	HGNC:14550	ENSG00000148600	609502	10q23.1	cadherin related family member 1	20087419[PMID]
CERKL	Disease-causing germline mutation(s) in	Assessed	HGNC:21699	ENSG00000188452	608381	2q31.3	CERK like autophagy regulator	20301590[PMID]
CFAP20	Disease-causing germline mutation(s) in	Assessed	HGNC:29523			16q21	cilia and flagella associated protein 20	36329026[PMID]
CFAP418	Disease-causing germline mutation(s) in	Assessed	HGNC:27232	ENSG00000156172	614477	8q22.1	cilia and flagella associated protein 418	22177090[PMID]_20301590[PMID]
CLRN1	Disease-causing germline mutation(s) in	Assessed	HGNC:12605	ENSG00000163646	606397	3q25.1	clarin 1	20301590[PMID]
CNGA1	Disease-causing germline mutation(s) in	Assessed	HGNC:2148	ENSG00000198515	123825	4p12	cyclic nucleotide gated channel subunit alpha 1	20301590[PMID]
CNGB1	Disease-causing germline mutation(s) in	Assessed	HGNC:2151	ENSG00000070729	600724	16q21	cyclic nucleotide gated channel subunit beta 1	20301590[PMID]
COQ8B	Disease-causing germline mutation(s) in	Assessed	HGNC:19041	ENSG00000123815	615567	19q13.2	coenzyme Q8B	39226897[PMID]
CRB1	Disease-causing germline mutation(s) in	Assessed	HGNC:2343	ENSG00000134376	604210	1q31.3	crumbs cell polarity complex component 1	20301590[PMID]
CRX	Disease-causing germline mutation(s) in	Assessed	HGNC:2383	ENSG00000105392	602225	19q13.33	cone-rod homeobox	20301590[PMID]
DHDDS	Disease-causing germline mutation(s) in	Assessed	HGNC:20603	ENSG00000117682	608172	1p36.11	dehydrodolichyl diphosphate synthase subunit	20301590[PMID]
DHX38	Disease-causing germline mutation(s) in	Assessed	HGNC:17211	ENSG00000140829	605584	16q22.2	DEAH-box helicase 38	30208423[PMID]
EYS	Disease-causing germline mutation(s) in	Assessed	HGNC:21555	ENSG00000188107	612424	6q12	EGF-like photoreceptor maintenance factor	20301590[PMID]
FAM161A	Disease-causing germline mutation(s) in	Assessed	HGNC:25808	ENSG00000170264	613596	2p15	FAM161 centrosomal protein A	20301590[PMID]
FSCN2	Disease-causing germline mutation(s) in	Assessed	HGNC:3960	ENSG00000186765	607643	17q25.3	fascin actin-bundling protein 2, retinal	20301590[PMID]
FSD1L	Disease-causing germline mutation(s) in	Assessed	HGNC:13753			9q31.2	fibronectin type III and SPRY domain containing 1 like	41720099[PMID]
GUCA1B	Disease-causing germline mutation(s) in	Assessed	HGNC:4679	ENSG00000112599	602275	6p21.1	guanylate cyclase activator 1B	20301590[PMID]
HGSNAT	Disease-causing germline mutation(s) in	Assessed	HGNC:26527	ENSG00000165102	610453	8p11.21-p11.1	heparan-alpha-glucosaminide N-acetyltransferase	25859010[PMID]
HKDC1	Disease-causing germline mutation(s) in	Assessed	HGNC:23302	ENSG00000156510	617221	10q22.1	hexokinase domain containing 1	30085091[PMID]
IDH3B	Disease-causing germline mutation(s) in	Assessed	HGNC:5385	ENSG00000101365	604526	20p13	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta	20301590[PMID]
IFT140	Disease-causing germline mutation(s) in	Assessed	HGNC:29077	ENSG00000187535	614620	16p13.3	intraflagellar transport 140	26216056[PMID]
IFT172	Disease-causing germline mutation(s) in	Assessed	HGNC:30391	ENSG00000138002	607386	2p23.3	intraflagellar transport 172	25168386[PMID]
IFT43	Disease-causing germline mutation(s) in	Assessed	HGNC:29669	ENSG00000119650	614068	14q24.3	intraflagellar transport 43	28973684[PMID]
IFT88	Disease-causing germline mutation(s) in	Assessed	HGNC:20606	ENSG00000032742	600595	13q12.11	intraflagellar transport 88	29978320[PMID]
IMPDH1	Disease-causing germline mutation(s) in	Assessed	HGNC:6052	ENSG00000106348	146690	7q32.1	inosine monophosphate dehydrogenase 1	20301590[PMID]
IMPG1	Disease-causing germline mutation(s) in	Assessed	HGNC:6055	ENSG00000112706	602870	6q14.1	interphotoreceptor matrix proteoglycan 1	32817297[PMID]
IMPG2	Disease-causing germline mutation(s) in	Assessed	HGNC:18362	ENSG00000081148	607056	3q12.3	interphotoreceptor matrix proteoglycan 2	20301590[PMID]
KIAA1549	Disease-causing germline mutation(s) in	Assessed	HGNC:22219	ENSG00000122778	613344	7q34	KIAA1549	30120214[PMID]
KLHL7	Disease-causing germline mutation(s) in	Assessed	HGNC:15646	ENSG00000122550	611119	7p15.3	kelch like family member 7	20301590[PMID]
LRAT	Disease-causing germline mutation(s) in	Assessed	HGNC:6685	ENSG00000121207	604863	4q32.1	lecithin retinol acyltransferase	18055821[PMID]_20301590[PMID]
MAK	Disease-causing germline mutation(s) in	Assessed	HGNC:6816	ENSG00000111837	154235	6p24.2	male germ cell associated kinase	20301590[PMID]
MERTK	Disease-causing germline mutation(s) in	Assessed	HGNC:7027	ENSG00000153208	604705	2q13	MER proto-oncogene, tyrosine kinase	20301590[PMID]
NR2E3	Disease-causing germline mutation(s) in	Assessed	HGNC:7974	ENSG00000278570	604485	15q23	nuclear receptor subfamily 2 group E member 3	20301590[PMID]
NRL	Disease-causing germline mutation(s) in	Assessed	HGNC:8002	ENSG00000129535	162080	14q11.2-q12	neural retina leucine zipper	20301590[PMID]
OFD1	Disease-causing germline mutation(s) in	Assessed	HGNC:2567	ENSG00000046651	300170	Xp22.2	OFD1 centriole and centriolar satellite protein	22619378[PMID]
PCARE	Disease-causing germline mutation(s) in	Assessed	HGNC:34383	ENSG00000179270	613425	2p23.2	photoreceptor cilium actin regulator	20301590[PMID]
PDE6A	Disease-causing germline mutation(s) in	Assessed	HGNC:8785	ENSG00000132915	180071	5q32	phosphodiesterase 6A	20301590[PMID]
PDE6B	Disease-causing germline mutation(s) in	Assessed	HGNC:8786	ENSG00000133256	180072	4p16.3	phosphodiesterase 6B	20301590[PMID]
PDE6G	Disease-causing germline mutation(s) in	Assessed	HGNC:8789	ENSG00000185527	180073	17q25.3	phosphodiesterase 6G	20301590[PMID]
POMGNT1	Disease-causing germline mutation(s) in	Assessed	HGNC:19139	ENSG00000085998	606822	1p34.1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	26908613[PMID]
PRCD	Disease-causing germline mutation(s) in	Assessed	HGNC:32528	ENSG00000214140	610598	17q25.1	photoreceptor disc component	20301590[PMID]
PROM1	Disease-causing germline mutation(s) in	Assessed	HGNC:9454	ENSG00000007062	604365	4p15.32	prominin 1	20301590[PMID]
PRPF3	Disease-causing germline mutation(s) in	Assessed	HGNC:17348	ENSG00000117360	607301	1q21.2	pre-mRNA processing factor 3	20301590[PMID]
PRPF31	Disease-causing germline mutation(s) in	Assessed	HGNC:15446	ENSG00000105618	606419	19q13.42	pre-mRNA processing factor 31	20301590[PMID]
PRPF6	Disease-causing germline mutation(s) in	Assessed	HGNC:15860	ENSG00000101161	613979	20q13.33	pre-mRNA processing factor 6	20301590[PMID]
PRPF8	Disease-causing germline mutation(s) in	Assessed	HGNC:17340	ENSG00000174231	607300	17p13.3	pre-mRNA processing factor 8	20301590[PMID]
PRPH2	Disease-causing germline mutation(s) in	Assessed	HGNC:9942	ENSG00000112619	179605	6p21.1	peripherin 2	20301590[PMID]
RBP3	Disease-causing germline mutation(s) in	Assessed	HGNC:9921	ENSG00000265203	180290	10q11.22	retinol binding protein 3	20301590[PMID]_19074801[PMID]
RDH12	Disease-causing germline mutation(s) in	Assessed	HGNC:19977	ENSG00000139988	608830	14q24.1	retinol dehydrogenase 12	20301590[PMID]
RGR	Disease-causing germline mutation(s) in	Assessed	HGNC:9990	ENSG00000148604	600342	10q23.1	retinal G protein coupled receptor	20301590[PMID]
RHO	Disease-causing germline mutation(s) in	Assessed	HGNC:10012	ENSG00000163914	180380	3q22.1	rhodopsin	20301590[PMID]
RLBP1	Disease-causing germline mutation(s) in	Assessed	HGNC:10024	ENSG00000140522	180090	15q26.1	retinaldehyde binding protein 1	20301590[PMID]
RNU4-2	Disease-causing germline mutation(s) in	Assessed	HGNC:10193	ENSG00000202538	620823	12q24.31	RNA, U4 small nuclear 2	41513982[PMID]
RNU6-1	Disease-causing germline mutation(s) in	Assessed	HGNC:10227			15q23	RNA, U6 small nuclear 1	41513982[PMID]
RNU6-2	Disease-causing germline mutation(s) in	Assessed	HGNC:34270			19p13.3	RNA, U6 small nuclear 2	41513982[PMID]
RNU6-8	Disease-causing germline mutation(s) in	Assessed	HGNC:34285			14q12	RNA, U6 small nuclear 8	41513982[PMID]
RNU6-9	Disease-causing germline mutation(s) in	Assessed	HGNC:34269			19p13.3	RNA, U6 small nuclear 9	41513982[PMID]
ROM1	Disease-causing germline mutation(s) in	Assessed	HGNC:10254	ENSG00000149489	180721	11q12.3	retinal outer segment membrane protein 1	20301590[PMID]
RP1	Disease-causing germline mutation(s) in	Assessed	HGNC:10263	ENSG00000104237	603937	8q11.23-q12.1	RP1 axonemal microtubule associated	20301590[PMID]
RP1L1	Disease-causing germline mutation(s) in	Assessed	HGNC:15946	ENSG00000183638	608581	8p23.1	RP1 like 1	31833436[PMID]
RP2	Disease-causing germline mutation(s) in	Assessed	HGNC:10274	ENSG00000102218	300757	Xp11.3	RP2 activator of ARL3 GTPase
RP9	Disease-causing germline mutation(s) in	Assessed	HGNC:10288	ENSG00000164610	607331	7p14.3	RP9 pre-mRNA splicing factor	20301590[PMID]
RPE65	Disease-causing germline mutation(s) in	Assessed	HGNC:10294	ENSG00000116745	180069	1p31.3	retinoid isomerohydrolase RPE65	20301590[PMID]
RPGR	Disease-causing germline mutation(s) in	Assessed	HGNC:10295	ENSG00000156313	312610	Xp11.4	retinitis pigmentosa GTPase regulator
SAG	Disease-causing germline mutation(s) in	Assessed	HGNC:10521	ENSG00000130561	181031	2q37.1	S-antigen visual arrestin	20301590[PMID]
SAXO6	Disease-causing germline mutation(s) in	Assessed	HGNC:29917			12q15	stabilizer of axonemal microtubules 6	41742423[PMID]
SCAPER	Disease-causing germline mutation(s) in	Assessed	HGNC:13081	ENSG00000140386	611611	15q24.3	S-phase cyclin A associated protein in the ER	28794130[PMID]
SEMA4A	Disease-causing germline mutation(s) in	Assessed	HGNC:10729	ENSG00000196189	607292	1q22	semaphorin 4A	20301590[PMID]
SLC7A14	Disease-causing germline mutation(s) in	Assessed	HGNC:29326	ENSG00000013293	615720	3q26.2	solute carrier family 7 member 14	24670872[PMID]
SNRNP200	Disease-causing germline mutation(s) in	Assessed	HGNC:30859	ENSG00000144028	601664	2q11.2	small nuclear ribonucleoprotein U5 subunit 200	20301590[PMID]
SPATA7	Disease-causing germline mutation(s) in	Assessed	HGNC:20423	ENSG00000042317	609868	14q31.3	spermatogenesis associated 7	19268277[PMID]_20301590[PMID]
TOPORS	Disease-causing germline mutation(s) in	Assessed	HGNC:21653	ENSG00000197579	609507	9p21.1	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	20301590[PMID]
TTC8	Disease-causing germline mutation(s) in	Assessed	HGNC:20087	ENSG00000165533	608132	14q31.3	tetratricopeptide repeat domain 8	20301590[PMID]
TULP1	Disease-causing germline mutation(s) in	Assessed	HGNC:12423	ENSG00000112041	602280	6p21.31	TUB like protein 1	20301590[PMID]
USH2A	Disease-causing germline mutation(s) in	Assessed	HGNC:12601	ENSG00000042781	608400	1q41	usherin	20301590[PMID]
ZNF513	Disease-causing germline mutation(s) in	Assessed	HGNC:26498	ENSG00000163795	613598	2p23.3	zinc finger protein 513	20301590[PMID]

Prevalence and incidence

9 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-5 / 10 000	21 / 100 000	United States	Value and class	Validated	6702974[PMID]
Point prevalence	1-5 / 10 000	30 / 100 000	Europe	Value and class	Validated	European Medicines Agency 2018[OTHER]
Point prevalence	1-5 / 10 000	26.7 / 100 000	Worldwide	Value and class	Validated	[EXPERT]
Point prevalence	1-5 / 10 000	25.4 / 100 000	Denmark	Value and class	Validated	11921605[PMID]
Point prevalence	1-5 / 10 000	22.5 / 100 000	Norway	Value and class	Validated	3594933[PMID]
Point prevalence	1-5 / 10 000	20.5 / 100 000	United Kingdom	Value and class	Validated	6512829[PMID]
Point prevalence	1-5 / 10 000	26.4 / 100 000	China	Value and class	Validated	3500313[PMID]
Point prevalence	1-5 / 10 000	16.7 / 100 000	Slovenia	Value and class	Validated	1395082[PMID]
Point prevalence	1-5 / 10 000	11.09 / 100 000	Korea, Republic of	Value and class	Validated	28130043[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

31 annotations · validated 2024-09-20

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000512	Abnormal electroretinogram
HP:0008046	Abnormal retinal vascular morphology
HP:0007703	Abnormality of retinal pigmentation
HP:0000618	Blindness
HP:0007737	Bone spicule pigmentation of the retina
HP:0000405	Conductive hearing impairment
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000613	Photophobia
HP:0007675	Progressive night blindness
HP:0000546	Retinal degeneration
HP:0000407	Sensorineural hearing impairment
HP:0000505	Visual impairment
Frequent (79-30%)
HP:0030488	Abnormal central response of multifocal electroretinogram
HP:0030466	Abnormal full-field electroretinogram
HP:0007843	Attenuation of retinal blood vessels
HP:0011505	Cystoid macular edema
HP:0000501	Glaucoma
HP:0000842	Hyperinsulinemia
HP:0000563	Keratoconus
HP:0000662	Nyctalopia
HP:0000602	Ophthalmoplegia
HP:0012426	Optic disc drusen
HP:0000543	Optic disc pallor
HP:0007994	Peripheral visual field loss
HP:0030610	Photoreceptor outer segment loss on macular OCT
HP:0007787	Posterior subcapsular cataract
HP:0001105	Retinal atrophy
Occasional (29-5%)
HP:0000551	Color vision defect
HP:0030786	Photopsia
HP:0007663	Reduced visual acuity

Run the differential on the 12 obligate / very frequent terms

Annotation source: 20301590[PMID]_30578498[PMID]_29597005[PMID]_29391772[PMID]_35015458[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/791
This record as JSON: /data/d/791.json