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Disease Database

Cone and Cone-Rod Dystrophies

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

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Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
ad, Cone Rod Dystrophy adCRD
AIPL1 604392 ad 17p13

ad,Cone Degeneration ADCD

ad 17p13

D17S796- D17S786
Cone Dystrophy COD4 613093 PDE6C 600827 ad 10q24

Cone dystrophy with supernormal rod ERG RCD3 610024 KCNV2 607604 ad 9p24.2

flanked by rs1112534 and rs1074449
Cone dystrophy, xl COD1 304020 RPGR 312610 xl Xp11.4

DXS1058- DXS556- DXS993 [4.0 [~1 cM]]
Cone dystrophy, xl COD2 304020

xl Xq28

  • Non-allelic to RP3
  • Link(2)
    Cone dystrophy, xl XLPCD2

    xl Xq27

  • Non-allelic to RP3
  • Link(2)
    Cone Rod Dystrophy CRD
    HRG4 604011 ad 17q11.2

  • Affected father and daughter
  • Unlikely to be caused by haploinsufficience
  • Link(20)
    Cone-rod degneration 1, xl CORDX1/RP15 304020 RPGR 312610 xl Xp21.1

    tel- DXS1229- DXS365- DXS7101- DXS7593- DXS1052- DXS274- DXS989- DXS451- cen
    Cone-rod degneration 3, xl CORDX3 300029 CACNA1F 300110 xl Xp11.23

    tel- DXS1229- DXS365- DXS7101- DXS7593- DXS1052- DXS274- DXS989- DXS451- cen
    Cone-rod dystrophy CORD9 612775 ADAM9 602713 ar 8p11.23

    ter- D8S136- D8S1048- D8S1820- [D8S1769, D8S1770, D8S1125, D8S1711, D8S1810, D8S339, D8S1477, D8S499, D8S375, D8S2319, D8S505, D8S283, D8S513, GATA101H09, D8S1118, D8S311, D8S532, D8S531, D8S584, D8S601, D8S285]- GATA101C06- cen;rs10955025 - rs725401
  • PPP2CB and DUS3-like excluded
  • Brazilian
  • DUS3 excluded
  • ~8 cM above RP1
  • Link(6)
    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
  • Link(4)
    Cone-rod dystrophy CRD
    ABCR 601691 ar 1p21-13


    Cone-rod dystrophy CRD

    ar 1q12-24

    D1S457- CRD- D1S2768 (RP18)
    Cone-rod dystrophy CRD
    GUCA1A 600364 ad 6p21.1

    D6S271 + 1cR
    Cone-rod dystrophy CRD 120970

    ad 17q

    Cone-rod dystrophy 1 CORD1 600624

    ad 18q21.1-21.3

    chrom. del. Link(38)
    Cone-rod dystrophy 2 CORD2 120970 CRX 120970 ad 19q13.3

    D19S47- D19S49- D19S225

    Cone-rod dystrophy 4 CORD4


    Cone-rod dystrophy 5 CORD5 600977 GUCY2D 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)
    Cone-rod dystrophy 5 CORD5 600977 PITPNM3 600179 ad 17p13-12

    Cone-rod dystrophy 6 CORD6 601777 GUCY2D 600179 ad 17p13-12

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

    D6S1625, [7] D6S252
  • IMPG1 excluded
  • Possibly allelic to STGD3
  • (18)
    Cone-rod dystrophy 8 CORD8 605549

    ar 1q12-24

    D1S495- [D1S457- D1S2746- D1S2881- D1S534- D1S514- D1S442- D1S498- D1S2635- D1S2771- D1S484- D1S2768- D1S2681]- D1S210
    Cone-rod dystrophy 9 CRD 608194 RPGRIP1 605446 ar 14q11

  • Pakistani
  • Link(11)
    Cone-rod dystrophy, ar RCD4 610478 CACNA2D4 608171 ar 12p13.3

  • Mutation screening in 34 patients with an initial diagnosis of CSNB
  • Progressive disease!!!
  • Link(42)
    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
  • Link(13)
    Retinal cone dystrophy 1 RCD1 180020

    ad 6q25-26

    chrom. del. Link(34)
    MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial


    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. 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. 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
    7. 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
    8. Demirci,F.Y., Rigatti,B.W., Wen,G., Radak,A.L., Mah,T.S., Baic,C.L., Traboulsi,E.I., Alitalo,T., Ramser,J., and Gorin,M.B. X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15. 2002; Am.J.Hum.Genet. 70: 1049-1053.
      Link 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,N.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. Jalkanen,R., Mantyjarvi,M., Tobias,R., Isosomppi,J., Sankila,E.M., Alitalo,T., and Bech-Hansen,N.T. X-linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 2006; J.Med.Genet. .:
      Link Goto Top
    15. 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
    16. 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
    17. 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
    18. 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
    19. 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
    20. 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
    21. Köhn,L., Kadzhaev,K., Burstedt,M.S., Haraldsson,S., Hallberg,B., Sandgren,O., and Golovleva,I. Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. 2007; Eur.J.Hum.Genet. 15: 664-671.
      Link Goto Top
    22. 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
    23. 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
    24. 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
    25. Parry,D.A., Mighell,A.J., El-Sayed,W., Shore,R.C., Jalili,I.K., Dollfus,H., Bloch-Zupan,A., Carlos,R., Carr,I.M., Downey,L.M., Blain,K.M., Mansfield,D.C., Shahrabi,M., Heidari,M., Aref,P., Abbasi,M., Michaelides,M., Moore,A.T., Kirkham,J., and Inglehearn,C.F. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. 2009; Am.J.Hum.Genet. 84: 266-273.
      Link Goto Top
    26. 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
    27. 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
    28. 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
    29. 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
    30. 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
    31. 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
    32. Thiadens,A.A., den Hollander,A.I., Roosing,S., Nabuurs,S.B., Zekveld-Vroon,R.C., Collin,R.W., De,B.E., Koenekoop,R.K., van Schooneveld,M.J., Strom,T.M., van Lith-Verhoeven,J.J., Lotery,A.J., van Moll-Ramirez,N., Leroy,B.P., van den Born,L.I., Hoyng,C.B., Cremers,F.P., and Klaver,C.C. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 2009; Am.J.Hum.Genet. 85: 240-247.
      Link Goto Top
    33. Thiagalingam,S., McGee,T.L., Weleber,R.G., Sandberg,M.A., Trzupek,K.M., Berson,E.L., and Dryja,T.P. Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. 2007; Ophthalmic Genet. 28: 135-142.
      Link Goto Top
    34. 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
    35. 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
    36. 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
    37. Warburg,M., Sjo,O., and Tranebjaerg,L. Chromosome 6q deletion and retinal cone dystrophy. 1991; Am.J.Med.Genet. 38: 134
      Link Goto Top
    38. 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
    39. Warburg,M., Tranebjaerg,L., and Sjo,O. Retinal cone dystrophy and chromosome 6(q26) deletions. 1990; Ann.Genet. 33: 124
      Link Goto Top
    40. Wissinger,B., Dangel,S., Jagle,H., Hansen,L., Baumann,B., Rudolph,G., Wolf,C., Bonin,M., Koeppen,K., Ladewig,T., Kohl,S., Zrenner,E., and Rosenberg,T. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. 2008; Invest Ophthalmol Vis.Sci. 49: 751-757.
      Link Goto Top
    41. Wu,H., Cowing,J.A., Michaelides,M., Wilkie,S.E., Jeffery,G., Jenkins,S.A., Mester,V., Bird,A.C., Robson,A.G., Holder,G.E., Moore,A.T., Hunt,D.M., and Webster,A.R. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. 2006; Am.J.Hum.Genet. 79: 574-579.
      Link Goto Top
    42. 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
    43. Yang,Z., Peachey,N.S., Moshfeghi,D.M., Thirumalaichary,S., Chorich,L., Shugart,Y.Y., Fan,K., and Zhang,K. Mutations in the RPGR gene cause X-linked cone dystrophy. 2002; Hum Mol.Genet. 11: 605-611.
      Link Goto Top

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