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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

RP digenic
179605 PRPH2 179605 ar 6p12

ADRP ADRP 180721 ROM1 180721 ad 11q13

RGR 600342 ad 10q23

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


    ADRP Cystoid Macula Oedema ADRP/CMO 180103 NRL 162080 ad 14q11

    [14.9 D14S72-D14S64-D14S1041]
    SAG 181031 ar 2q37

    RLBP1, CRALBP 180090 ar 15q26

    ARRP ARRP 123825 CNGA1 123825 ar 4p12-cen

    ARRP ARRP 180071 PDE6A 180071 ar 5q31.2-34

    ARRP ARRP 180380 RHO 180380 ar 3q21-24

    ARRP ARRP 180381 GRK1 180381 ar 13q34

    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)
    IRBP, RBP3 180290 ar 10q11.2

    [rs2460551 - IRBP - rs7089288 - rs10857448 - rs7898315 9Mb]
    PCDH21, CDHR1 609502 ar 10q11.2

    ARRP ARRP 612572 IDH3B 604526 ar 20p13

    Cone-rod degneration 1, xl CORDX1/RP15 304020 RPGR 312610 xl Xp21.1

    tel- DXS1229- DXS365- DXS7101- DXS7593- DXS1052- DXS274- DXS989- DXS451- cen
    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)
    ADRP RP10 180105 IMPDH1 146690 ad 7q31.3

    cen- D7S486- D7S677- D7S480- D7S487- D7S514- D7S530- tel
    D7S504, CFTR
  • Spanish pedigree FA-84
  • American family UTAD-045
  • Link(16)
    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)
    ADRP RP11 600138 PRPF31 176980 ad 19q13.4

    [600 kb D19S927- D19S781.1]
  • Type II/regional from of RP
  • Link(5)
    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
    ADRP RP13 600059 PRPC8 607300 ad 17p13.3

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

    ARRP RP16

    ar 14q11-13.1

    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)
    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]

    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)
    XLRP RP2 312600 RP2
    xl Xp11.3-11.22

    DXS14- DXS7
    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]
    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)
    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)
    ADRP RP27 162080 NRL 162080 ad 14q11

    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)
    XLRP RP3 300389 RPGR 312610 xl Xp21.1

    ADRP RP30 607921 FSCN2 607643 ad 17q25

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

    D9S285, D9S157, AFMe153td9, D9S1874
    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
    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]
    ADRP RP35 610282 SEMA4A 607292 ad 1q22

    ARRP RP36 610599 C2Y 610598 ar 17q22

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

    D2S1790- D2S442
    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

    ARRP RP40 180072 PDE6B 180072 ar 4p16.3

    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
    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
    ADRP RP7 608133 PRPH2 179605 ad 6p12

    ADRP RP8 500004

    ad unlinked

    ADRP RP9 180104 PIM1K 607339 ad 7p14

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

    RP simplex RPsi
    NRL 162080 ad 14q11

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


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      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.
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    33. Friedman,J.S., Ray,J.W., Waseem,N., Johnson,K., Brooks,M.J., Hugosson,T., Breuer,D., Branham,K.E., Krauth,D.S., Bowne,S.J., Sullivan,L.S., Ponjavic,V., Granse,L., Khanna,R., Trager,E.H., Gieser,L.M., Hughbanks-Wheaton,D., Cojocaru,R.I., Ghiasvand,N.M., Chakarova,C.F., Abrahamson,M., Goring,H.H., Webster,A.R., Birch,D.G., Abecasis,G.R., Fann,Y., Bhattacharya,S.S., Daiger,S.P., Heckenlively,J.R., Andreasson,S., and Swaroop,A. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. 2009; Am.J.Hum.Genet. 84: 792-800.
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