Disease Database Cone and Cone-Rod Dystrophies

Recent update from: 29.11.2006

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.
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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. 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. 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.
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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.
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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.
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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.
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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. 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.
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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. 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. 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. 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.
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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.
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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.
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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.
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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.
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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.
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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.
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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. 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.
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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.
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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.
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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.
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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.
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32. Warburg,M., Sjo,O., and Tranebjaerg,L. Chromosome 6q deletion and retinal cone dystrophy. 1991; Am.J.Med.Genet. 38: 134
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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.
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34. Warburg,M., Tranebjaerg,L., and Sjo,O. Retinal cone dystrophy and chromosome 6(q26) deletions. 1990; Ann.Genet. 33: 124
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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. Goto Top
    

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Contact the editor	Return to Disease Database Page	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