KEGG   DISEASE: Retinitis pigmentosa
Entry
H00527                      Disease                                
Name
Retinitis pigmentosa
Description
Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00527  Retinitis pigmentosa
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00527  Retinitis pigmentosa
Related
pathway
hsa04744  Phototransduction
hsa03040  Spliceosome
hsa00230  Purine metabolism
hsa00830  Retinol metabolism
Gene
(RP1) RP1 [HSA:6101] [KO:K19538]
(RP2) RP2 [HSA:6102] [KO:K18272]
(RP3/RP15) RPGR [HSA:6103] [KO:K19607]
(RP4) RHO [HSA:6010] [KO:K04250]
(RP7) PRPH2 [HSA:5961] [KO:K17343]
(RP7) ROM1 [HSA:6094] [KO:K17344]
(RP9) RP9 [HSA:6100] [KO:K19604]
(RP10) IMPDH1 [HSA:3614] [KO:K00088]
(RP11) PRPF31 [HSA:26121] [KO:K12844]
(RP12) CRB1 [HSA:23418] [KO:K16681]
(RP13) PRPF8 [HSA:10594] [KO:K12856]
(RP14) TULP1 [HSA:7287] [KO:K19600]
(RP17) CA4 [HSA:762] [KO:K18246]
(RP18) PRPF3 [HSA:9129] [KO:K12843]
(RP19) ABCA4 [HSA:24] [KO:K05644]
(RP20/87) RPE65 [HSA:6121] [KO:K11158]
(RP23) OFD1 [HSA:8481] [KO:K16480]
(RP25) EYS [HSA:346007] [KO:K19601]
(RP26) CERKL [HSA:375298] [KO:K19602]
(RP27) NRL [HSA:4901] [KO:K09038]
(RP28) FAM161A [HSA:84140] [KO:K16772]
(RP30) FSCN2 [HSA:25794] [KO:K17455]
(RP31) TOPORS [HSA:10210] [KO:K10631]
(RP32) CLCC1 [HSA:23155] [KO:K22188]
(RP33) SNRNP200 [HSA:23020] [KO:K12854]
(RP35) SEMA4A [HSA:64218] [KO:K06521]
(RP36) PRCD [HSA:768206] [KO:K19637]
(RP37) NR2E3 [HSA:10002] [KO:K08546]
(RP38) MERTK [HSA:10461] [KO:K05117]
(RP39) USH2A [HSA:7399] [KO:K19636]
(RP40) PDE6B [HSA:5158] [KO:K13756]
(RP41) PROM1 [HSA:8842] [KO:K06532]
(RP42) KLHL7 [HSA:55975] [KO:K10445]
(RP43) PDE6A [HSA:5145] [KO:K08718]
(RP44) RGR [HSA:5995] [KO:K04254]
(RP45) CNGB1 [HSA:1258] [KO:K04952]
(RP46) IDH3B [HSA:3420] [KO:K00030]
(RP47) SAG [HSA:6295] [KO:K19627]
(RP48) GUCA1B [HSA:2979] [KO:K08328]
(RP49) CNGA1 [HSA:1259] [KO:K04948]
(RP50) BEST1 [HSA:7439] [KO:K13878]
(RP54) PCARE [HSA:388939] [KO:K24165]
(RP55) ARL6 [HSA:84100] [KO:K07951]
(RP56) IMPG2 [HSA:50939] [KO:K19017]
(RP57) PDE6G [HSA:5148] [KO:K13759]
(RP58) ZNF513 [HSA:130557] [KO:K24373]
(RP59) DHDDS [HSA:79947] [KO:K11778]
(RP60) PRPF6 [HSA:24148] [KO:K12855]
(RP61) CLRN1 [HSA:7401] [KO:K23841]
(RP62) MAK [HSA:4117] [KO:K08829]
(RP64) CFAP418 [HSA:157657] [KO:K25226]
(RP66) RBP3 [HSA:5949] [KO:K23911]
(RP67) NEK2 [HSA:4751] [KO:K20872]
(RP68) SLC7A14 [HSA:57709] [KO:K13871]
(RP69) KIZ [HSA:55857] [KO:K16539]
(RP70) PRPF4 [HSA:9128] [KO:K12662]
(RP71) IFT172 [HSA:26160] [KO:K19676]
(RP72) ZNF408 [HSA:79797] [KO:K24372]
(RP73) HGSNAT [HSA:138050] [KO:K10532]
(RP74) BBS2 [HSA:583] [KO:K16747]
(RP75) AGBL5 [HSA:60509] [KO:K23438]
(RP76) POMGNT1 [HSA:55624] [KO:K09666]
(RP77) REEP6 [HSA:92840] [KO:K17279]
(RP78) ARHGEF18 [HSA:23370] [KO:K21066]
(RP79) HK1 [HSA:3098] [KO:K00844]
(RP80) IFT140 [HSA:9742] [KO:K19672]
(RP81) IFT43 [HSA:112752] [KO:K19675]
(RP82) ARL2BP [HSA:23568] [KO:K16742]
(RP83) ARL3 [HSA:403] [KO:K07944]
(RP84) DHX38 [HSA:9785] [KO:K12815]
(RP85) AHR [HSA:196] [KO:K09093]
(RP86) RP86 [HSA:57670]
(RP88) RP1L1 [HSA:94137] [KO:K19538]
(RP89) KIF3B [HSA:9371] [KO:K20196]
(RP90) IDH3A [HSA:3419] [KO:K00030]
(Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625]
Drug
Voretigene neparvovec [DR:D11008] (biallelic RPE65 mutated)
Other DBs
ICD-11: 9B70
ICD-10: H35.5
MeSH: D012174
OMIM: 268000 180100 312600 300029 300455 613731 608133 180104 180105 600138 600105 600059 600132 600852 601414 601718 613794 300424 602772 608380 613750 606068 607921 609923 609913 610359 610282 610599 611131 613862 613809 613801 612095 612943 613810 613769 613767 612572 613758 613827 613756 613194 613464 613428 613575 613581 613582 613617 613861 613983 614180 614181 614500 615565 615725 615780 615922 616394 616469 616544 616562 617023 617123 617304 617433 617460 617781 617871 615434 618173 618220 618345 618613 618697 618826 618955 607475 619007
Reference
PMID:17296890 (RP1-30)
  Authors
Daiger SP, Bowne SJ, Sullivan LS
  Title
Perspective on genes and mutations causing retinitis pigmentosa.
  Journal
Arch Ophthalmol 125:151-8 (2007)
DOI:10.1001/archopht.125.2.151
Reference
PMID:15563868 (RP14-39)
  Authors
Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP
  Title
Gene mutations in retinitis pigmentosa and their clinical implications.
  Journal
Clin Chim Acta 351:5-16 (2005)
DOI:10.1016/j.cccn.2004.08.004
Reference
PMID:10889272 (RP39-49)
  Authors
Phelan JK, Bok D
  Title
A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes.
  Journal
Mol Vis 6:116-24 (2000)
Reference
PMID:21549338 (RP9_11_13_33_60)
  Authors
Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C
  Title
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
  Journal
Am J Hum Genet 88:643-9 (2011)
DOI:10.1016/j.ajhg.2011.04.008
Reference
PMID:19956407 (RP12_55)
  Authors
Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS
  Title
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
  Journal
Mol Vis 15:2464-9 (2009)
Reference
PMID:19853238 (RP50)
  Authors
Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD
  Title
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
  Journal
Am J Hum Genet 85:581-92 (2009)
DOI:10.1016/j.ajhg.2009.09.015
Reference
PMID:20398884 (RP54)
  Authors
Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T
  Title
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
  Journal
Am J Hum Genet 86:783-8 (2010)
DOI:10.1016/j.ajhg.2010.03.016
Reference
PMID:21295282 (RP59)
  Authors
Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D
  Title
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
  Journal
Am J Hum Genet 88:207-15 (2011)
DOI:10.1016/j.ajhg.2011.01.002
Reference
PMID:21835304 (RP62)
  Authors
Ozgul RK, Siemiatkowska AM, Yucel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC
  Title
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
  Journal
Am J Hum Genet 89:253-64 (2011)
DOI:10.1016/j.ajhg.2011.07.005
Reference
PMID:25802487 (RP64)
  Authors
Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M
  Title
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
  Journal
Mol Vis 21:236-43 (2015)
Reference
PMID:24670872 (RP68)
  Authors
Jin ZB, Huang XF, Lv JN, Xiang L, Li DQ, Chen J, Huang C, Wu J, Lu F, Qu J
  Title
SLC7A14 linked to autosomal recessive retinitis pigmentosa.
  Journal
Nat Commun 5:3517 (2014)
DOI:10.1038/ncomms4517
Reference
PMID:25168386 (RP69_71)
  Authors
Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Said S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA
  Title
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
  Journal
Hum Mol Genet 24:230-42 (2015)
DOI:10.1093/hmg/ddu441
Reference
PMID:27889058 (RP77)
  Authors
Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R
  Title
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
  Journal
Am J Hum Genet 99:1305-1315 (2016)
DOI:10.1016/j.ajhg.2016.10.008
Reference
PMID:28132693 (RP78)
  Authors
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V, Moore AT, Raymond FL, Matter K, Balda MS, Webster AR
  Title
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
  Journal
Am J Hum Genet 100:334-342 (2017)
DOI:10.1016/j.ajhg.2016.12.014
Reference
PMID:25190649 (RP79)
  Authors
Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP
  Title
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
  Journal
Invest Ophthalmol Vis Sci 55:7147-58 (2014)
DOI:10.1167/iovs.14-15419
Reference
PMID:26968735 (RP80)
  Authors
Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT
  Title
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
  Journal
Invest Ophthalmol Vis Sci 57:1053-62 (2016)
DOI:10.1167/iovs.15-17976
Reference
PMID:30208423 (RP84)
  Authors
Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM
  Title
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
  Journal
Invest Ophthalmol Vis Sci 59:4552-4557 (2018)
DOI:10.1167/iovs.18-23849
Reference
PMID:30025130 (RP88)
  Authors
Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S
  Title
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
  Journal
Invest Ophthalmol Vis Sci 59:3041-3052 (2018)
DOI:10.1167/iovs.18-24033
Reference
PMID:28412069 (RP90)
  Authors
Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM
  Title
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
  Journal
Ophthalmology 124:992-1003 (2017)
DOI:10.1016/j.ophtha.2017.03.010
Reference
PMID:11176989 (Bothnia retinal dystrophy)
  Authors
Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O
  Title
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
  Journal
Arch Ophthalmol 119:260-7 (2001)
Reference
PMID:25541840 (RP74)
  Authors
Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D
  Title
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
  Journal
JAMA Ophthalmol 133:312-8 (2015)
DOI:10.1001/jamaophthalmol.2014.5251

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