Scientific Disease Database
Cone and Cone-Rod Dystrophies

Recent update from: 29.11.2006


Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
ad,Cone Degeneration ADCD


ad 17p13

D17S796- D17S786
(22)
(25)
ad, Cone Rod Dystrophy adCRD
AIPL1 604392 ad 17p13



(27)
Cone-rod dystrophy, xl COD


xl Xp11.4-q13.1

DXS10042- CA23- CA20- DXS993- DXS8012- DXS1201- MAOB- DXS1055- DXS1194- DXS1275- DXS559- DXS8060 [35 cM]
  • RPGR, RP2, NYX, NDG, DDX3, GPR34, I-4, TIMP1, ARR3 excluded
  • (13)
    Cone dystrophy, xl COD1 304020

    xl Xp11.4

    DXS1058- DXS556- DXS993 [4.0 [~1 cM]]
  • Non-allelic to RP3
  • (8)
    (12)
    (24)
    Cone dystrophy, xl COD2 304020

    xl Xq28



    (2)
    Cone-rod dystrophy 1 CORD1 600624

    ad 18q21.1-21.3


    chrom. del. (33)
    Cone-rod dystrophy CORD10


    ad 6p21.1-12.2

    ter-6-41025 - 6-41483 - 6-42153 - D6S271 - D6S459 - 6-49770 - 6-50893 - 6-51672 - 6-52969-cen
  • Italian
  • COD and CORD phenotype
  • (4)
    Cone-rod dystrophy 2 CORD2 120970 CRX 120970 ad 19q13.3

    D19S47- D19S49- D19S225
    D19S412
    D19S606
    D19S604
    D19S180
    D19S902

    (9)
    (10)
    (28)
    Cone-rod degneration 3, xl CORD3/RP15 300029

    xl Xp22.13-22.11

    tel- DXS1229- DXS365- DXS7101- DXS7593- DXS1052- DXS274- DXS989- DXS451- cen
    (6)
    (21)
    (31)
    Cone-rod dystrophy 4 CORD4







    unassigned
    Cone-rod dystrophy 5 CORD5 600977 RetGC1 600179 ad 17p13-12

    [D17S926- D17S849- D17S938 (-D17S513)]- [D17S796 (-D17S938- D17S906- D17S1353- D17S1805- D17S786- D17S1858- D17S952-D17S1791)- D17S960- D17S786- D17S804- D17S945 (RCV1)]- D17S954- D17S799- D17S798
  • ad cone dystrophy without rod involvement
  • Selective impairment of photopic ERG
  • Identical to CORD6
  • (1)
    (26)
    (30)
    Cone-rod dystrophy 6 CORD6 601777 RetGC1 600179 ad 17p13-12

    D17S796- D17S954 [8]
  • Identical to CORD5
  • (15)
    (16)
    (30)
    Cone-rod dystrophy 7 CORD7 603649 RIM1 606629 ad 6q13-15

    D6S430
    D6S313
    D6S1673
    D6S1557
    D6S1619
    D6S455
    D6S421
    D6S1681
    D6S280
    D6S1596
    D6S406
    D6S1622
    D6S456
    D6S1625, [7] D6S252
  • IMPG1 excluded
  • Possibly allelic to STGD3
  • (17)
    (14)
    Cone-rod dystrophy 8 CORD8 605549

    ar 1q12-24

    D1S495- [D1S457- D1S2746- D1S2881- D1S534- D1S514- D1S442- D1S498- D1S2635- D1S2771- D1S484- D1S2768- D1S2681]- D1S210
    (18)
    Cone-rod dystrophy CORD9


    ar 8p11-q11

    ter- D8S136- D8S1048- D8S1820- [D8S1769, D8S1770, D8S1125, D8S1711, D8S1810, D8S339, D8S1477, D8S499, D8S375, D8S2319, D8S505, D8S283, D8S513, GATA101H09, 2T5, D8S1118, D8S311, D8S532, D8S531, D8S584, D8S601, RP1, D8S285]- GATA101C06- cen
  • PPP2CB and DUS3-like excluded
  • Brazilian
  • DUS3 excluded
  • ~8 cM above RP1
  • (7)
    Cone-rod dystrophy CRD
    GUCA1A 600364 ad 6p21.1

    D6S271 + 1cR
    (23)
    Cone-rod dystrophy CRD
    ABCR 601691 ar 1p21-13

    D1S406
    D1S236
    D1S198
    D1S311
    D1S167
    D1S497
    D1S206
    D1S495

    (5)
    Cone-rod dystrophy CRD 120970

    ad 17q



    (20)
    Cone-rod dystrophy CRD


    ar 1q12-24

    D1S457- CRD- D1S2768 (RP18)
    (3)
    Cone Rod Dystrophy CRD
    HRG4 604011 ad 17q11.2


  • Affected father and daughter
  • Unlikely to be caused by haploinsufficience
  • (19)
    Cone-rod dystrophy 9 CRD 608194 RPGRIP1 605446 ar 14q11


  • Pakistani
  • (11)
    Retinal cone dystrophy 1 RCD1 180020

    ad 6q25-26


    chrom. del. (29)
    (32)
    (34)
    Cone-rod dystrophy, ar RCD4 610478 CACNA2D4 608171 ar 12p13.3


  • Mutation screening in 34 patients with an initial diagnosis of CSNB
  • Progressive disease!!!
  • (35)
    Cone dystrophy, xl XLPCD2


    xl Xq27


  • Non-allelic to RP3
  • (2)

    References

    1. Balciuniene,J., Johansson,K., Sandgren,O., Wachtmeister,L., Holmgren,G., and Forsman,K. A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. 1995; Genomics. 30: 281-286.
      Link Goto Top
    2. Bergen,A.A.B. and Pinckers,A.J. Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. 1997; Am.J.Hum.Genet. 60: 1468-1473. Link Goto Top
    3. Bhattacharya,S.S., Khaliq,S., Hameed,A., Ismail,M., Anwar,K., Leroy,B., Mehdi,S.Q., and Payne,A.M. A New Locus For Autosomal Recessive Cone-Rod Dystrophy Mapping To Chromosome 1q12-24. 2000; Invest.Ophthalmol.Vis.Sci. S195 Goto Top
    4. Castori,M., Valente,E.M., Clementi,M., Tormene,A.P., Brancati,F., Caputo,V., and Dallapiccola,B. A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 2005; Invest Ophthalmol.Vis.Sci. 46: 3539-3544. Link Goto Top
    5. Cremers,F.P., van de Pol,D.J., van Driel,M., den Hollander,A.I., van Haren,F.J., Knoers,N.V., Tijmes,N., Bergen,A.A.B., Rohrschneider,K., Blankenagel,A., Pinckers,A.J., Deutman,A.F., and Hoyng,C.B. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 1998; Hum.Mol.Genet. 7: 355-362.
      Link Goto Top
    6. Daiger,S.P., Sullivan,L.S., and Rodriguez,J.A. Correlation of phenotype with genotype in inherited retinal degeneration. 1995; Behavioral and Brain Sciences. 18: 452-467. Goto Top
    7. Danciger,M., Hendrickson,J., Lyon,J., Toomes,C., McHale,J.C., Fishman,G.A., Inglehearn,C.F., Jacobson,S.G., and Farber,D.B. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. 2001; Invest.Ophthalmol.Vis.Sci. 42: 2458-2465.
      Link Goto Top
    8. Dash-Modi,A., Seymour,A.B., Stefko,T., Mah,T., Shaffer-Gordon,M., Ferrell,R.E., and Gorin,M.B. Localization of X-linked cone-rod dystrophy (COD-1) to a limited region of Xp11.4 - p11.3 that encompasses the RP2 locus. 1996; Invest.Ophthalmol.Vis.Sci. 37: S998 Goto Top
    9. Evans,K., Fryer,A., Inglehearn,C., Duvall Young,J., Whittaker,J.L., Gregory,C.Y., Butler,R., Ebenezer,N., Hunt,D.M., and Bhattacharya,S. Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. 1994; Nat.Genet. 6: 210-213.
      Link Goto Top
    10. Freund,C.L., Gregory Evans,C.Y., Furukawa,T., Papaioannou,M., Looser,J., Ploder,L., Bellingham,J., Ng,D., Herbrick,J.A., Duncan,A., Scherer,S.W., Tsui,L.C., Loutradis Anagnostou,A., Jacobson,S.G., Cepko,C.L., Bhattacharya,S.S., and McInnes,R.R. Cone-rod dystrophy due to mutations in a novel photoreceptor- specific homeobox gene (CRX) essential for maintenance of the photoreceptor. 1997; Cell. 91: 543-553.
      Link Goto Top
    11. Hameed,A., Abid,A., Aziz,A., Ismail,M., Mehdi,S.Q., and Khaliq,S. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 2003; J.Med.Genet. 40: 616-619. Link Goto Top
    12. Hong,H.K., Ferrell,R.E., and Gorin,M.B. Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). 1994; Am.J.Hum.Genet. 55: 1173-1181.
      Link Goto Top
    13. Jalkanen,R., Demirci,F.Y., Tyynismaa,H., Bech-Hansen,T., Meindl,A., Peippo,M., Mantyjarvi,M., Gorin,M.B., and Alitalo,T. A new genetic locus for X linked progressive cone-rod dystrophy. 2003; J.Med.Genet. 40: 418-423. Link Goto Top
    14. Johnson,S., Halford,S., Morris,A.G., Patel,R.J., Wilkie,S.E., Hardcastle,A.J., Moore,A.T., Zhang,K., and Hunt,D.M. Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 2003; Genomics. 81: 304-314. Link Goto Top
    15. Kelsell,R.E., Evans,K., Gregory,C.Y., Moore,A.T., Bird,A.C., and Hunt,D.M. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. 1997; Hum.Mol.Genet. 6: 597-600. Link Goto Top
    16. Kelsell,R.E., Gregory-Evans,K., Gregory-Evans,C.Y., Holder,G.E., Jay,M.R., Weber,B.H., Moore,A.T., Bird,A.C., and Hunt,D.M. Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. 1998; Am.J.Hum.Genet. 63: 274-279.
      Link Goto Top
    17. Kelsell,R.E., Yang,R.B., Gregory-Evans,K., Payne,A.M., Kaplan,J., Garbers,D.L., Bird,A.C., Moore,A.T., and Hunt,D.M. Mutations Of The Retinal Guanylate Cyclase (RETGC-1) Gene Associated With Dominant Cone-Rod Dystrophy. 1998; Invest.Ophthalmol.Vis.Sci. 39: S900 Goto Top
    18. Khaliq,S., Hameed,A., Ismail,M., Anwar,K., Leroy,B.P., Mehdi,S.Q., Payne,A.M., and Bhattacharya,S.S. Novel locus for autosomal recessive cone-Rod dystrophy CORD8 mapping to chromosome 1q12-q24. 2000; Invest.Ophthalmol.Vis.Sci. 41: 3709-3712.
      Link Goto Top
    19. Kobayashi,A., Higashide,T., Hamasaki,D., Kubota,S., Sakuma,H., An,W., Fujimaki,T., McLaren,M.J., Weleber,R.G., and Inana,G. HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 2000; Invest.Ophthalmol.Vis.Sci. 41: 3268-3277.
      Link Goto Top
    20. Kylstra,J.A. and Aylsworth,A.S. Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. 1993; Can.J.Ophthalmol. 28: 79-80.
      Link Goto Top
    21. McGuire,R.E., Sullivan,L.S., Blanton,S.H., Church,M.W., Heckenlively,J.R., and Daiger,S.P. X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13- p22.11. 1995; Am.J.Hum.Genet. 57: 87-94.
      Link Goto Top
    22. Mullen,L., Forsman,K., Lee,B., Heckenlively,J.R., and Small,K.W. Refined genetic mapping of autosomal dominant cone degeneration. 1996; Am.J.Hum.Genet. 59: A386 Goto Top
    23. Payne,A.M., Dowes,S.M., Bessant,D.A.R., Taylor,R., Holder,G.E., Warren,M.J., Bird,A.C., Bhattacharya,S.S., Downes,S.M., and Bessant,D.A. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 1998; Hum.Mol.Genet. 7: 273-277.
      Link Goto Top
    24. Seymour,A.B., Dash Modi,A., O'Connell,J.R., Shaffer Gordon,M., Mah,T.S., Stefko,S.T., Nagaraja,R., Brown,J., Kimura,A.E., Ferrell,R.E., and Gorin,M.B. Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. 1998; Am.J.Hum.Genet. 62: 122-129.
      Link Goto Top
    25. Small,K.W., Syrquin,M., Mullen,L., and Gehrs,K. Mapping of autosomal dominant cone degeneration to chromosome 17p. 1996; Am.J.Ophthalmol. 121: 13-18. Link Goto Top
    26. Small,K.W., Yelchits,S., Forsman,K., Sheikhavandi,S., Shirvanian,A., Nguyen,R.N., Vyas,P.R., Sohocki,M.M., Daiger,S.P., and Udar,N.S. Physical Mapping Of The Gene For CORD5 On Human Chromosome 17p. 2000; Invest.Ophthalmol.Vis.Sci. S195 Goto Top
    27. Sohocki,M.M., Perrault,I., Leroy,B.P., Payne,A.M., Dharmaraj,S., Bhattacharya,S.S., Kaplan,J., Maumenee,I.H., Koenekoop,R., Meire,F.M., Birch,D.G., Heckenlively,J.R., and Daiger,S.P. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. 2000; Mol.Genet.Metab. 70: 142-150.
      Link Goto Top
    28. Sohocki,M.M., Sullivan,L.S., Mintz-Hittner,H.A., Birch,D., Heckenlively,J.R., Freund,C.L., McInnes,R.R., and Daiger,S.P. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 1998; Am.J.Hum.Genet. 63: 1307-1315.
      Link Goto Top
    29. Tranebjaerg,L., Sjo,O., and Warburg,M. Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27). 1986; Ophthalmic Paediatr.Genet. 7: 167-173.
      Link Goto Top
    30. Udar,N., Yelchits,S., Chalukya,M., Yellore,V., Nusinowitz,S., Silva-Garcia,R., Vrabec,T., Hussles,M., I, Donoso,L., and Small,K.W. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 2003; Hum.Mutat. 21: 170-171.
      Link Goto Top
    31. Van de Vosse,E., Bergen,A.A.B., Meershoek,E.J., Oosterwijk,J.C., Gregory,S., Bakker,B., Weissenbach,J., Coffey,A.J., van Ommen,G.J., and Den Dunnen,J.T. An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 1996; Eur.J.Hum.Genet. 4: 101-104.
      Link Goto Top
    32. Warburg,M., Sjo,O., and Tranebjaerg,L. Chromosome 6q deletion and retinal cone dystrophy. 1991; Am.J.Med.Genet. 38: 134
      Link Goto Top
    33. Warburg,M., Sjo,O., Tranebjaerg,L., and Fledelius,H.C. Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. 1991; Am.J.Med.Genet. 39: 288-293.
      Link Goto Top
    34. Warburg,M., Tranebjaerg,L., and Sjo,O. Retinal cone dystrophy and chromosome 6(q26) deletions. 1990; Ann.Genet. 33: 124
      Link Goto Top
    35. Wycisk,K.A., Zeitz,C., Feil,S., Wittmer,M., Forster,U., Neidhardt,J., Wissinger,B., Zrenner,E., Wilke,R., Kohl,S., and Berger,W. Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy. 2006; Am J Hum Genet. 79: 973-977. Link Goto Top

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    This site is maintained and edited by
    Dr. rer. medic. Markus Preising, Dipl.Biol.
    Molecular Genetics Laboratory
    Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
    University of Regensburg
    Head: Prof. Dr. med. Birgit Lorenz