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DATABASES

Disease Database

Retinitis pigmentosa

Recent update from: 24.03.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
RP digenic
180721 ROM1 180721 ar 11q13



(48)
Link(51)
RP digenic
179605 PRPH2 179605 ar 6p12



(48)
Link(51)
ADRP ADRP 180721 ROM1 180721 ad 11q13



Link(91)
ADRP ADRP
RGR 600342 ad 10q23


  • Not a common ADRP gene
  • Single family
  • Deceased father was said to be affected => dominant inheritance
  • Link(79)
    ADRP ADRP
    CRX 120970 ad 19q13.3

    D19S902
    D19S412
    D19S606

    Link(94)
    ADRP Cystoid Macula Oedema ADRP/CMO 180103 NRL 162080 ad 14q11

    [14.9 D14S72-D14S64-D14S1041]
    Link(13)
    ARRP ARRP
    SAG 181031 ar 2q37



    Link(80)
    ARRP ARRP
    RLBP1, CRALBP 180090 ar 15q26



    Link(69)
    ARRP ARRP 123825 CNGA1 123825 ar 4p12-cen

    D4S2950-D4S405-D4S3045-CNGA1-D4S428-D4S1592
    Link(29)
    Link(85)
    Link(112)
    ARRP ARRP 180071 PDE6A 180071 ar 5q31.2-34



    Link(44)
    ARRP ARRP 180380 RHO 180380 ar 3q21-24



    Link(88)
    Link(89)
    ARRP ARRP 180381 GRK1 180381 ar 13q34



    (55)
    Link(56)
    Link(109)
    ARRP ARRP
    RGR 600342 ar 10q23


  • Not a common ADRP gene
  • Single family
  • 4 affected relatives homozygously carrying a mutation
  • Link(79)
    ARRP ARRP 268000 CNGB1 600724 ar 16q13

    D16S3137 -GGAA23C09 -D16S3112 -ATA25D03 -D16S3039 -D16S3110 -D16S3140 -D16S494 -D16S3132 -D16S3089 -D16S514 -D16S503 -D16S3050 -D16S3043 Homozygous french family Link(8)
    Link(58)
    ARRP ARRP
    IRBP, RBP3 180290 ar 10q11.2

    [rs2460551 - IRBP - rs7089288 - rs10857448 - rs7898315 9Mb]
    Link(27)
    ARRP ARRP
    PCDH21, CDHR1 609502 ar 10q11.2



    Link(43)
    ARRP ARRP 612572 IDH3B 604526 ar 20p13



    Link(42)
    Cone-rod degneration 1, xl CORDX1/RP15 304020 RPGR 312610 xl Xp21.1

    tel- DXS1229- DXS365- DXS7101- DXS7593- DXS1052- DXS274- DXS989- DXS451- cen
    Link(72)
    Link(98)
    Link(110)
    ADRP RP1 180100 RP1 603937 ad 8q12-13

    LPL- D8S5(TL11)- D8S87- ANK1
    [1 D8S165
    D8S593, D8S591], WI5801- CHLC.GATA8G08- [4 D8S601- WI3265- WI15400- WI13801- WI19524- WI491- CHLC.GATA4E09.581- CHLC.GATA4E08- AFMA084WH1- D8S1079- RP1- D8S593- WI3862- WI4879- WI9705-D8S285]- SGC35617
  • UCLA-RP01
  • Late onset, slow progression
  • Link(15)
    Link(47)
    Link(106)
    Link(95)
    Link(84)
    Link(12)
    ADRP RP10 180105 IMPDH1 146690 ad 7q31.3

    cen- D7S486- D7S677- D7S480- D7S487- D7S514- D7S530- tel
    D7S686
    D7S522
    D7S523
    D7S23
    D7S461
    D7S466
    D7S471
    D7S490
    D7S501
    D7S504, CFTR
  • Spanish pedigree FA-84
  • American family UTAD-045
  • Link(16)
    Link(49)
    Link(54)
    Link(71)
    Link(77)
    ADRP RP11 600138 PRKCG 176980 ad 19q13.4

    D19S219- D19S246- D19S571- D19S180- D19S572- PRKCG- AFMc001yb1- D19S418- D19S605- D19S404- D19S210- D19S254- D19S214- D19S218- AFMb343wf1
  • Two types of phenotypes:
    1. Bimodal Expressivity = all or nothing phenotype with early onset
    2. Phenotype ranging from normal to severe
  • Link(5)
    Link(4)
    Link(70)
    ADRP RP11 600138 PRPF31 176980 ad 19q13.4

    [600 kb D19S927- D19S781.1]
  • Type II/regional from of RP
  • Link(5)
    Link(4)
    Link(70)
    Link(102)
    Link(25)
    RP + preserved peri-arteriolar RPE RP12 600105 CRB1 604210 ar 1q31-32.1

    cen- D1S158- D1S238- D1S422- [5 D1S533/D1S412- F13B- CACLN1A3- D1S413- CACLN1A3]- D1S477- D1S306- D1S53- tel
    Link(28)
    Link(62)
    Link(101)
    Link(100)
    ADRP RP13 600059 PRPC8 607300 ad 17p13.3

    D17S1528
    D17S1529- D17S831
    D17S578- D17S926- D17S849- D17S938- D17S796- D17S960- D17S804- D17S786- cen
  • Ancestor from Suffolk, England, no surviving English descendants
  • South African
  • Dutch
  • Link(37)
    Link(57)
    Link(73)
    Link(99)
    ARRP RP14 600132 TULP1 602280 ar 6p21.3


    Link(39)
    ARRP RP16


    ar 14q11-13.1

    D14S80
    (19)
    ADRP RP17 600852 CA4 114760 ad 17q23

    [ D17S809 (-D17S790- D17S787- D17S808- D17S807-) D17S942- D17S789- D17S795- D17S929- D17S785] 3.6 Mb
  • South African family with ancestors in Hesse/Germany settled in 1762
  • No evidence of non-penetrance
  • Link(7)
    Link(87)
    Link(86)
    ADRP RP18 601414 HPRP3, PRPF3 607301 ad 1q13-21

    tel- D1S188- [~30 D1S534- D1S498- D1S305]- D1S176- SPTA- CRP- D1S1167- D1S104- D1S196- cen
    D1S422-D1S2858 [2]

    Link(108)
    Link(107)
    Link(20)
    ARRP RP19 601718 ABCR 601691 ar 1p21-13

    D1S167- [3,5 D1S435- D1S188- D1S2849- D1S2868- D1S424- D1S236]- D1S497
  • Atypical ARRP with choroidal atrophy
  • Spanish family M-33
  • Link(68)
    Link(67)
    XLRP RP2 312600 RP2
    xl Xp11.3-11.22

    DXS14- DXS7
    Link(22)
    Link(96)
    Link(93)
    Link(105)
    ARRP RP20
    RPE65 180069 ar 1q31


  • Mutations in 2% of ARRP patients
  • SeeLCA2
  • Link(78)
    ARRP RP22 602594

    ar 16p12.3-12.1

    D16S287- D16S420 [16]
    Link(32)
    XLRP RP23 300424

    xl Xp22

    996- [DXS1223- DXS7103- 8 cM- (RP23/DXS1224)- 4 cM- DXS999- DXS989- DXS1110- DXS426- DXS7161 15 cM]- DXS7592- DXS7101- DXS1229- DXS7593- DXS1052- DXS7110- DXS989- DXS1048
  • Onset is unusual early
  • Obligate carriers have normal fundi and waveforms
  • RS1 excluded
  • Link(41)
    XLRP RP24 300155

    xl Xq26.2-27.2

    cen- DXS8094- DXS1211- DXS1192- DXS8013- DXS1205- DXS8106- DXS8084- DXS8043- ter [23]
  • Single family
  • Early onset of rod photoreceptor dysfunction
  • Cone function is normal but shows progressive loss
  • Link(36)
    ARRP RP25 602772 EYS 612424 ar 6q12

    D6S1582- D6S282- D6S1650- D6S1662- D6S257- D6S402- D6S1681- D6S1596- D6S460- D6S445- D6S1601- D6S1595- D6S1601- GABRR1- GABRR2- D6S1644- D6S1613- D6S1570
  • 3 spanish families
  • Link(90)
    Link(65)
    Link(64)
    Link(9)
    Link(2)
    Link(1)
    Link(10)
    Link(23)
    ARRP RP26 608380 CERKL 608381 ar 2q31.2-32.3

    D2S148- D2S2261- CERKL- D2S364- D2S350- D2S118- D2S389- D2S318- D2S161- D2S273- D2S117 [79]
  • Characteristic fundus changes
  • Macular alterations
  • SAG lies distal
  • Spanish
  • Link(11)
    Link(97)
    ADRP RP27 162080 NRL 162080 ad 14q11



    Link(66)
    ARRP RP28 606068

    ar 2p15-11

    D2S1352- D2S1337- D2S380- D2S441- D2S291- D2S1394- D2S1337- D2S286- D2S2114- D2S438- D2S388- D2S1331- D2S1258 [16]
  • Indian
  • Consanguineous
  • Link(38)
    ARRP RP29


    ar 4q32-34

    D4S1629- D4S2368- D4S2979- D4S621- D4S2431- D4S3028- D4S3035- [D4S3030- - D4S415 (HBD)]- D4S2417
  • Pakistani family
  • 6 generations
  • Consanguineous
  • CLCN3 and M6a excluded by mutation analysisvv
  • (83)
    Link(40)
    XLRP RP3 300389 RPGR 312610 xl Xp21.1



    Link(14)
    Link(34)
    Link(75)
    Link(6)
    ADRP RP30 607921 FSCN2 607643 ad 17q25


  • Japan
  • Link(103)
    ADRP RP31 609923 TOPORS 609507 ad 9p22-p13

    D9S285, D9S157, AFMe153td9, D9S1874
    Link(82)
    Link(17)
    Link(21)
    ARRP RP32 609913

    ar 1p21.2-13.3

    D1S2868-[ABCA4-D1S236-D1S2664-D1S2793-D1S2808-D1S2671-D1S206-4.9 cM][D1S2896-D1S495-D1S2669-D1S485-D1S429-D1S2759-D1S239-D1S248-D1S457 10.5 cM]-D1S2726
  • Mutations in 2% of ARRP patients
  • Pakistani
  • Link(113)
    ADRP RP33 610359 SNRNP200 601664 ad 2q11.2

    D2S2159- D2S2222- D2S1343
    Link(115)
    Link(63)
    Link(114)
    XLRP RP34 300605

    XL Xq28

    DXS1060- DXS8051- DXS987- DXS1226- DXS1214- DXS1068- DXS993- DXS991- DXS986- DXS990- DXS1106- DXS8055- DXS1001-DXS1047- [DXS1227- DXS8043 RP24]- [DXS8091- DXS8061- DXS1073- DXS1108 7.11 cM]
    Link(76)
    ADRP RP35 610282 SEMA4A 607292 ad 1q22



    Link(3)
    ARRP RP36 610599 C2Y 610598 ar 17q22


  • Bangladesh
  • Link(111)
    ARRP RP38
    MERTK 604705 ar 2q14

    D2S1790- D2S442
    Link(35)
    ARRP RP39
    Usherin 608400 ar 1q41

    D1S2646/ D1S2629- DS2827- AFM268ZD1, cen- D1S505- D1S425- D1S217- D1S556- D1S237- [1 D1S474- EB1- EB2- KB6- AFM144XF2]- KB1- KB4- D1S229- D1S490- D1S227-TGFb2- D1S439-tel
  • 1 Israeli family
  • Link(50)
    ADRP RP4 180380 RHO 180380 ad 3q21-24



    Link(30)
    Link(92)
    Link(104)
    ARRP RP40 180072 PDE6B 180072 ar 4p16.3



    Link(74)
    ADRP RP42 612943 KLHL7 611119 ad 7p15.3


  • Scandinavian Family 72
  • Link(33)
    ADRP RP5 180380

    ad 3q



    designation retired
    ADRP RP50 613194 BEST1 607854 ar 11q12-13.1

    UGB- D11S4076- D11S1765
    Link(24)
    XLRP RP6 312612

    xl Xp21.3-21.2

    DXS28- DXS164, [RP23 DXS1223- DXS1226- DXS989 [] RP15- DXS8099- DXS1061- DXS1218- DXS1017 [] RP6- DXS8039- DXS503-DXS1241- DXS1036- [RP3- DXS1067]- MG -[] RP2- DXS6679- DXS8083- DXS1055- p|q- DXS1205 [] RP24- DXS8084- DXS8043
    Link(81)
    (18)
    ADRP RP7 608133 PRPH2 179605 ad 6p12



    Link(31)
    Link(60)
    ADRP RP8 500004

    ad unlinked



    Link(59)
    Link(61)
    ADRP RP9 180104 PIM1K 607339 ad 7p14

    D7S795, cen- D7S519- D7S521- D7S485- D7S510- D7S528- [10 D7S484/ D7S460/ D7S497- D7S435/ D7S526]- D7S516- D7S529- D7S493- tel
    Link(45)
    Link(46)
    Link(53)
    Link(52)
    RP + Coats-like Disease RPCLD
    CRB1 604210 ar 1q31-32.1



    Link(26)
    RP simplex RPsi
    NRL 162080 ad 14q11



    Link(66)
    MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

    References

    1. Abd El-Aziz,M.M., Barragan,I., O'Driscoll,C., Borrego,S., bu-Safieh,L., Pieras,J.I., El-Ashry,M.F., Prigmore,E., Carter,N., Antinolo,G., and Bhattacharya,S.S. Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval. 2008; Ann.Hum.Genet. 72: 463-477.
      Link Goto Top
    2. Abd El-Aziz,M.M., Barragan,I., O'Driscoll,C.A., Goodstadt,L., Prigmore,E., Borrego,S., Mena,M., Pieras,J.I., El-Ashry,M.F., Safieh,L.A., Shah,A., Cheetham,M.E., Carter,N.P., Chakarova,C., Ponting,C.P., Bhattacharya,S.S., and Antinolo,G. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. 2008; Nat.Genet. 40: 1285-1287.
      Link Goto Top
    3. Abid,A., Ismail,M., Mehdi,S.Q., and Khaliq,S. Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. 2006; J.Med.Genet. 43: 378-381.
      Link Goto Top
    4. al Maghtheh,M., Vithana,E., Tarttelin,E., Jay,M., Evans,K., Moore,T., Bhattacharya,S., and Inglehearn,C.F. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. 1996; Am.J.Hum.Genet. 59: 864-871.
      Link Goto Top
    5. al Maghtheh,M., Vithana,E.N., Inglehearn,C.F., Moore,T., Bird,A.C., and Bhattacharya,S.S. Segregation of a PRKCG mutation in two RP11 families. 1998; Am.J.Hum.Genet. 62: 1248-1252.
      Link Goto Top
    6. Bader,I., Brandau,O., Achatz,H., Apfelstedt-Sylla,E., Hergersberg,M., Lorenz,B., Wissinger,B., Wittwer,B., Rudolph,G., Meindl,A., and Meitinger,T. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. 2003; Invest.Ophthalmol.Vis.Sci. 44: 1458-1463.
      Link Goto Top
    7. Bardien,S., Ebenezer,N., Greenberg,J., Inglehearn,C.F., Bartmann,L., Goliath,R., Beighton,P., Ramesar,R., and Bhattacharya,S.S. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. 1995; Hum.Mol.Genet. 4: 1459-1462.
      Link Goto Top
    8. Bareil,C., Hamel,C.P., Delague,V., Arnaud,B., Demaille,J., and Claustres,M. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. 2001; Hum.Genet. 108: 328-334.
      Link Goto Top
    9. Barragan,I., Abd El-Aziz,M.M., Borrego,S., El-Ashry,M.F., O'Driscoll,C., Bhattacharya,S.S., and Antinolo,G. Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families. 2008; Ann.Hum.Genet. 72: 454-462.
      Link Goto Top
    10. Barragan,I., Marcos,I., Borrego,S., and Antinolo,G. Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa. 2005; Int.J.Mol.Med. 16: 1163-1167.
      Link Goto Top
    11. Bayes,M., Goldaracena,B., Martinez-Mir,A., Iragui Madoz,M.I., Solans,T., Chivelet,P., Bussaglia,E., Ramos Arroyo,M.A., Baiget,M., Vilageliu,L., Balcells,S., Gonzalez Duarte,R., and Grinberg,D. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. 1998; J.Med.Genet. 35: 141-145.
      Link Goto Top
    12. Berson,E.L., Grimsby,J.L., Adams,S.M., McGee,T.L., Sweklo,E., Pierce,E.A., Sandberg,M.A., and Dryja,T.P. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). 2001; Invest.Ophthalmol.Vis.Sci. 42: 2217-2224.
      Link Goto Top
    13. Bessant,D.A., Payne,A.M., Mitton,K.P., Wang,Q.L., Swain,P.K., Plant,C., Bird,A.C., Zack,D.J., Swaroop,A., and Bhattacharya,S.S. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 1999; Nat.Genet. 21: 355-356.
      Link Goto Top
    14. Bhattacharya,S.S., Wright,A.F., Clayton,J.F., Price,W.H., Phillips,C.I., McKeown,C.M., Jay,M., Bird,A.C., Pearson,P.L., and Southern,E.M. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. 1984; Nature. 309: 253-255.
      Link Goto Top
    15. Blanton,S.H., Heckenlively,J.R., Cottingham,A.W., Friedman,J., Sadler,L.A., Wagner,M., Friedman,L.H., and Daiger,S.P. Linkage Mapping of Autosomal Dominant Retinitis-Pigmentosa (RP1) to the Pericentric Region of Human Chromosome-8. 1991; Genomics. 11: 857-869.
      Link Goto Top
    16. Bowne,S.J., Sullivan,L.S., Blanton,S.H., Cepko,C.L., Blackshaw,S., Birch,D.G., Hughbanks-Wheaton,D., Heckenlively,J.R., and Daiger,S.P. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. 2002; Hum.Mol.Genet. 11: 559-568.
      Link Goto Top
    17. Bowne,S.J., Sullivan,L.S., Gire,A.I., Birch,D.G., Hughbanks-Wheaton,D., Heckenlively,J.R., and Daiger,S.P. Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. 2008; Mol.Vis. 14:922-7.: 922-927.
      Link Goto Top
    18. Breuer,D.K., Musarella,M., and Swaroop,A. Verification And Fine Mapping Of The X-Linked Retinitis Pigmentosa Locus RP6. 2000; Invest.Ophthalmol.Vis.Sci. 41: S191 Goto Top
    19. Bruford,E.A., Mansfield,D.C., Teague,P.W., Barber,A., Fossarello,M., and Wright,A.F. Genetic linkage studies in autosomal recessive retinitis pigmentosa. 1994; Am.J.Hum.Genet. (Suppl.): A181 Goto Top
    20. Chakarova,C.F., Hims,M.M., Bolz,H., Abu-Safieh,L., Patel,R.J., Papaioannou,M.G., Inglehearn,C.F., Keen,T.J., Willis,C., Moore,A.T., Rosenberg,T., Webster,A.R., Bird,A.C., Gal,A., Hunt,D., Vithana,E.N., and Bhattacharya,S.S. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. 2002; Hum.Mol.Genet. 11: 87-92.
      Link Goto Top
    21. Chakarova,C.F., Papaioannou,M.G., Khanna,H., Lopez,I., Waseem,N., Shah,A., Theis,T., Friedman,J., Maubaret,C., Bujakowska,K., Veraitch,B., bd El-Aziz,M.M., Prescott,d.Q., Parapuram,S.K., Bickmore,W.A., Munro,P.M., Gal,A., Hamel,C.P., Marigo,V., Ponting,C.P., Wissinger,B., Zrenner,E., Matter,K., Swaroop,A., Koenekoop,R.K., and Bhattacharya,S.S. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. 2007; Am.J.Hum.Genet. 81: 1098-1103.
      Link Goto Top
    22. Chen,J.D., Dickinson,P., Gray,R., Constable,I., Sheffield,L., and Denton,M.J. Non-allelic mutations in X-linked retinitis pigmentosa. 1989; Clin Genet. 35: 338-342.
      Link Goto Top
    23. Collin,R.W., Littink,K.W., Klevering,B.J., van den Born,L.I., Koenekoop,R.K., Zonneveld,M.N., Blokland,E.A., Strom,T.M., Hoyng,C.B., den Hollander,A.I., and Cremers,F.P. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. 2008; Am.J.Hum.Genet. 83: 594-603.
      Link Goto Top
    24. Davidson,A.E., Millar,I.D., Urquhart,J.E., Burgess-Mullan,R., Shweikh,Y., Parry,N., O'Sullivan,J., Maher,G.J., McKibbin,M., Downes,S.M., Lotery,A.J., Jacobson,S.G., Brown,P.D., Black,G.C., and Manson,F.D. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 2009; Am.J.Hum.Genet. 85: 581-592.
      Link Goto Top
    25. Deery,E.C., Vithana,E.N., Newbold,R.J., Gallon,V.A., Bhattacharya,S.S., Warren,M.J., Hunt,D.M., and Wilkie,S.E. Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. 2002; Hum.Mol.Genet. 11: 3209-3219.
      Link Goto Top
    26. den Hollander,A.I., Heckenlively,J.R., van den Born,L.I., de Kok,Y.J., Velde-Visser,S.D., Kellner,U., Jurklies,B., van Schooneveld,M.J., Blankenagel,A., Rohrschneider,K., Wissinger,B., Cruysberg,J.R., Deutman,A.F., Brunner,H.G., Apfelstedt-Sylla,E., Hoyng,C.B., and Cremers,F.P. Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 2001; Am.J.Hum.Genet. 69: 198-203.
      Link Goto Top
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