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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

References

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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.
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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
    
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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.
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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.
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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.
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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
    
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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.
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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.
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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.
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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.
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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.
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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.
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37. 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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39. Warburg,M., Tranebjaerg,L., and Sjo,O. Retinal cone dystrophy and chromosome 6(q26) deletions. 1990; Ann.Genet. 33: 124
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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.
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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.
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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.
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