Retina International's Scientific Newsletter
	Disease Database Retinal and Macular Dystrophy Loci

Recent update from: 08.02.01

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

References

1. . Allikmets,R. Simple and complex ABCR: genetic predisposition to retinal disease. 2000; Am.J.Hum.Genet. 67: 793-799.
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2. . Allikmets,R., Shroyer,N.F., Singh,N., Seddon,J.M., Lewis,R.A., Bernstein,P.S., Peiffer,A., Zabriskie,N.A., Li,Y., Hutchinson,A., Dean,M., Lupski,J.R., and Leppert,M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 1997; Science. 277: 1805-1807.
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3. . Allikmets,R., Singh,N., Sun,H., Shroyer,N.F., Hutchinson,A., Chidambaram,A., Gerrard,B., Baird,L., Stauffer,D., Peiffer,A., Rattner,A., Smallwood,P., Li,Y., Anderson,K.L., Lewis,R.A., Nathans,J., Leppert,M., Dean,M., and Lupski,J.R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 1997; Nat.Genet. 15: 236-246.
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4. . David,G., Durr,A., Stevanin,G., Cancel,G., Abbas,N., Benomar,A., Belal,S., Lebre,A.S., Abada Bendib,M., Grid,D., Holmberg,M., Yahyaoui,M., Hentati,F., Chkili,T., Agid,Y., and Brice,A. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). 1998; Hum.Mol.Genet. 7: 165-170.
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5. . Del Favero,J., Krols,L., Michalik,A., Theuns,J., Lofgren,A., Goossens,D., Wehnert,A., Van den Bossche,D., Van Zand,K., Backhovens,H., van Regenmorter,N., Martin,J.J., and Van Broeckhoven,C. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. 1998; Hum.Mol.Genet. 7: 177-186.
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6. . Edwards,A., Klein,M.L., Berselli,C.B., Weleber,R.G., Rust,K., Wirtz,M.K., Hejtmancik,J.F., and Acott,T.S. Refinement of the locus for malattia leventinese: An autosomal dominant form of macular degeneration with a radial drusen phenotype. 1997; Invest.Ophthalmol.Vis.Sci. 38: S1140-S1140
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7. . Edwards,A.O., Klein,M.L., Berselli,C.B., Hejtmancik,J.F., Rust,K., Wirtz,M.K., Weleber,R.G., and Acott,T.S. Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen. 1998; Am.J.Ophthalmol. 126: 417-424.
   Link to PudMed
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8. . Felbor,U., Benkwitz,C., Kein,M.L., Greenberg,K., Gregory,C.Y., Weber,B.H.F., Klein,M.L., Greenberg,J., and Weber,B.H. Sorsby fundus dystrophy - reevaluation of variable expressivity in patients carrying a timp3 founder mutation. 1997; Arch.Ophthalmol. 115: 1569-1571.
   Link to PudMed
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9. . Felbor,U., Suvanto,E.A., Forsius,H.R., Eriksson,A.W., and Weber,B.H. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 1997; Am.J.Hum.Genet. 60: 57-62.
   Link to PudMed
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10. . Ferrell,R.E., Hittner,H.M., and Antoszyk,J.H. Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus. 1983; Am.J.Hum.Genet. 35: 78-84.
    Link to PudMed
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11. . Gerber,S., Rozet,J.M., Bonneau,D., Souied,E., Camuzat,A., Dufier,J.L., Amalric,P., Weissenbach,J., Munnich,A., and Kaplan,J. A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. 1995; Am.J.Hum.Genet. 56: 396-399.
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12. . Gregory,C.Y., Evans,K., Wijesuriya,S.D., Kermani,S., Jay,M.R., Plant,C., Cox,N., Bird,A.C., and Bhattacharya,S.S. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. 1996; Hum.Mol.Genet. 5: 1055-1059.
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13. . Griesinger,I.B., Sieving,P.A., and Ayyagari,R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. 2000; Invest.Ophthalmol.Vis.Sci. 41: 248-255.
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14. . Haider,N.B., Jacobson,S.G., Cideciyan,A.V., Swiderski,R., Streb,L.M., Searby,C., Beck,G., Hockey,R., Hanna,D.B., Gorman,S., Duhl,D., Carmi,R., Bennett,J., Weleber,R.G., Fishman,G.A., Wright,A.F., Stone,E.M., and Sheffield,V.C. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 2000; Nat.Genet. 24: 127-131.
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15. . Heon,E., Piguet,B., Munier,F., Sneed,S.R., Morgan,C.M., Forni,S., Pescia,G., Schorderet,D., Taylor,C.M., Streb,L.M., Wiles,C.D., Nishimura,D.Y., Sheffield,V.C., and Stone,E.M. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. 1996; Arch.Ophthalmol. 114: 193-198.
    Link to PudMed
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16. . Hoyng,C.B., Deutman,A.F., van de Pol,D., Knoers,N., Pinckers,A., and Cremers,F.P.M. Genetic linkage of two different phenotypes of rod and cone dystrophy in a family with pseudo dominant inheritance to 1p21-p13. 1997; Invest.Ophthalmol.Vis.Sci. 38: S795-S795
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17. . Hoyng,C.B., Poppelaars,F., van de Pol,T.J., Kremer,H., Pinckers,A.J., Deutman,A.F., and Cremers,F.P. Genetic fine mapping of the gene for recessive Stargardt disease. 1996; Hum.Genet. 98: 500-504.
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18. . Kajiwara,K., Sandberg,M.A., Berson,E.L., and Dryja,T.P. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. 1993; Nat.Genet. 3: 208-212.
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19. . Kaplan,J., Gerber,S., Takezawa,S., Santos,L., Rozet,J.M., Lopes,L., Perrault,I., Ducroq,D., and Yu-Umesuno,R. Retinitis pigmentosa of crypto jews from Portugal is ascribed to a homozygote mutation in the photoreceptor cell-specific nuclear receptor gene (PNR) hindering the dimerization of the protein. 2000; Invest.Ophthalm.Vis.Sci. 41: S94
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20. . Keen,T.J., Inglehearn,C.F., Kim,R., Bird,A.C., Bhattacharya,S.S., and Bhattacharya,S. Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene. 1994; Hum.Mol.Genet. 3: 367-368.
    Link to PudMed
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21. . Kelsell,R.E., Godley,B.F., Evans,K., Tiffin,P.A., Gregory,C.Y., Plant,C., Moore,A.T., Bird,A.C., and Hunt,D.M. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. 1995; Hum.Mol.Genet. 4: 1653-1656.
    Link to PudMed
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22. . Kniazeva,M., Chiang,M., Morgan,B., Anduze,A., Zack,D., and Zhang,K. A New Gene For Autosomal Dominant Stargardt-Like Disease. 1999; Invest.Ophthalmol.Vis.Sci. 40: S602
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23. . Kniazeva,M., Cutting,G.R., Garibaldi,D., Zack,D.J., Han,M., and Zhang,K. Autosomal dominant Stargardt macular dystrophy: clinical features and genetic linkage of a three generation family. 1998; Am.J.Hum.Genet. 63: A295
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24. . Kremer,H., Pinckers,A., van den Helm,B., Deutman,A.F., Ropers,H.H., and Mariman,E.C. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. 1994; Hum.Mol.Genet. 3: 299-302.
    Link to PudMed
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25. . Kumar Singh,R., Jordan,S.A., Farrar,G.J., and Humphries,P. Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus. 1991; Nucleic.Acids.Res. 19: 5800-5800.
    Link to PudMed
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26. . Lotery,A.J., Hughes,A.E., Silvestri,G., Ennis,K., Nicholl,S., McGibbon,D., and Archer,D.B. Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. 1996; Invest.Ophthalmol.Vis.Sci. 37: S1124
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27. . Nichols,B.E., Bascom,R., Litt,M., McInnes,R., Sheffield,V.C., and Stone,E.M. Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. 1994; Am.J.Hum.Genet. 54: 95-103.
    Link to PudMed
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28. . Oudet,C., Weber,C., Kaplan,J., Segues,B., Croquette,M.F., Roman,E.O., and Hanauer,A. Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene. 1993; J.Med.Genet. 30: 300-303.
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29. . Petrukhin,K., Koisti,M.J., Bakall,B., Li,W., Xie,G., Marknell,T., Sandgren,O., Forsman,K., Holmgren,G., Andreasson,S., Vujic,M., Bergen,A.A., McGarty Dugan,V., Figueroa,D., Austin,C.P., Metzker,M.L., Caskey,C.T., and Wadelius,C. Identification of the gene responsible for Best macular dystrophy. 1998; Nat.Genet. 19: 241-247.
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30. . Ravia,Y., Braier Goldstein,O., Bat Miriam,K.M., Erlich,S., Barkai,G., and Goldman,B. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus. 1993; Hum.Mol.Genet. 2: 1295-1297.
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31. . Ringpfeil,F., Lebwohl,M.G., Christiano,A.M., and Uitto,J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 2000; Proc.Natl.Acad.Sci.U.S.A. 97: 6001-6006.
    Link to PudMed
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32. . Ringpfeil,F., Nakano,A., Uitto,J., and Pulkkinen,L. Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum. 2001; Am.J.Hum.Genet. 68: 642-652.
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33. . Rocha,J., Amorim,A., Almeida,V.M., Oliveira,J.P., Leao,M., Tavares,M.C., Pereira,M.S., and Vidal Pinheiro,L. Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E.C. 2.6.1.2) locus to 8q24.2 - 8qter. 1988; Hum.Genet. 80: 299-300.
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34. . Rozet,J.M., Gerber,S., Perrault,I., Camuzat,A., Calvas,P., Viegas Pequignot,E., Molina Gomes,D., Le Paslier,D., Chumakov,I., Munnich,A., and Kaplan,J. Structure and physical mapping of DR1, a TATA-binding protein- associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). 1996; Genomics. 36: 554-556.
    Link to PudMed
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35. . Sauer,C.G., Gehrig,A., Warneke Wittstock,R., Marquardt,A., Ewing,C.C., Gibson,A., Lorenz,B., Jurklies,B., and Weber,B.H. Positional cloning of the gene associated with X-linked juvenile retinoschisis. 1997; Nat.Genet. 17: 164-170.
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36. . Seeliger,M.W., Biesalski,H.K., Wissinger,B., Gollnick,H., Gielen,S., Frank,J., Beck,S., and Zrenner,E. Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 1999; Invest.Ophthalmol.Vis.Sci. 40: 3-11.
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37. . Small,K.W., Puech,B., Mullen,L., and Yelchits,S. North carolina macular dystrophy phenotype in france maps to the MCDR1 Locus. 1997; Mol.Vis. 3: 1
    Human Mutation Online
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38. . Small,K.W., Sanchez,A.R., Yelchitis,S.V., Kelley,K.C., Jimenez-Morillas,M.E., Mullen,L.M., Stalvey,M.S., Dickel,C.D., Rao,N., and Pettenati,M.J. Physical mapping of the MCDR1 (North Carolina Macular Dystrophy) locus. 1994; Invest.Ophthalmol.Vis.Sci. 35 (Suppl.): 1717-1717.
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39. . Small,R.K., Watkins,B.A., Munro,P.M., and Liu,D. Functional properties of retinal Muller cells following transplantation to the anterior eye chamber. 1993; Glia. 7: 158-169.
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40. . Souied,E., Soubrane,G., Benlian,P., Coscas,G.J., Gerber,S., Munnich,A., and Kaplan,J. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 1996; Am.J.Ophthalmol. 121: 19-25.
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41. . Stoehr,H., Marquardt,A., Cooper,P., Nowak,N.J., Shows,T.B., Gerhard,D.S., and Weber,B.H.F. Gene map of the Best's disease candidate region in 11q12-q13.1. 1996; Am.J.Hum.Genet. 59: A313-A313
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42. . Stone,E.M., Haider,N.B., Jacobson,S.G., Cideciyan,A.V., Swiderski,R.E., Bennett,J., Weleber,R.G., Fishman,G.A., and Sheffield,V.C. Mutations in a photoreceptor-specific nuclear receptor (NR2E3) cause the enhanced S-cone syndrome. 2000; Invest.Ophthalm.Vis.Sci. 41: S94
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43. . Stone,E.M., Lotery,A.J., Munier,F.L., Heon,E., Piguet,B., Guymer,R.H., Vandenburgh,K., Cousin,P., Nishimura,D., Swiderski,R.E., Silvestri,G., Mackey,D.A., Hageman,G.S., Bird,A.C., Sheffield,V.C., and Schorderet,D.F. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 1999; Nat.Genet. 22: 199-202.
    Link to PudMed
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44. . Stone,E.M., Nichols,B.E., Kimura,A.E., Weingeist,T.A., Drack,A., and Sheffield,V.C. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. 1994; Arch.Ophthalmol. 112: 765-772.
    Link to PudMed
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45. . Sun,H. and Nathans,J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. 1997; Nat.Genet. 17: 15-16.
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46. . 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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47. . Wadelius,C., Graff,C., Forsman,K., Eriksson,A., Sandgren,O., Weissenbach,J., and Holmgren,G. Genetic and physical mapping of the gene for Bests macular dystrophy. 1996; Am.J.Hum.Genet. 59: A240-A240
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48. . Weber,B.H., Vogt,G., Pruett,R.C., Stohr,H., and Felbor,U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. 1994; Nat.Genet. 8: 352-356.
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49. . Weber,B.H., Walker,D., Muller,B., and Mar,L. Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity. 1994; Genomics. 20: 267-274.
    Link to PudMed
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50. . Weber,B.H.F., Stöhr,H., Passmore,L.A., Krämer,F., Rivera,A., and Marquardt,A. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). 1998; Am.J.Hum.Genet. 63: A4
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51. . Weber,J.L. and May,P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. 1989; Am.J.Hum.Genet. 44: 388-396.
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52. . Yamamoto,H., Simon,A., Eriksson,U., Harris,E., Berson,E.L., and Dryja,T.P. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 1999; Nat.Genet. 22: 188-191.
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53. . Yamamoto,R., Li,X., Francke,U., and Kilimann,M.W. Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy. 1995; Am.J.Hum.Genet. 57: 970-972.
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54. . Zhang,K., Bither,P.P., Park,R., Donoso,L.A., Seidman,J.G., and Seidman,C.E. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. 1994; Arch.Ophthalmol. 112: 759-764.
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55. . Zhang,K., Kniazeva,M., Stefko,S.T., Gorin,M.B., Blaschak,C.G., Cutting,G., Han,M., and Traboulsi,E.I. A new locus for dominant drusen with macular degeneration maps to chromosome 6q14. 2000; Invest.Ophthalm.Vis.Sci. 41: S398
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