Retina International's Scientific Newsletter
	Disease Database Retinal Dystrophies

Recent update from: Fehler! Textmarke nicht definiert.

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

References

1. 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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2. 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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3. 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.
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4. 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.
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5. 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.
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6. 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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7. 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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8. 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 [see comments]. 2000; Nat.Genet. 24: 127 - 131.
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9. 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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10. 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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11. 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.
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12. 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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13. 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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14. 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.
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15. 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
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16. 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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17. 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.
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18. 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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19. 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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20. 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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21. Rozet, J.M., Gerber, S., Perrault, I., Camuzat, A., Viegas-Pequignot, E., Molina-Gomes, D., Le Paslier, D., Chumakov, I., Munnich, A., and Kaplan, J. Structure and chromosomal localization of the human Dr1 gene and exclusion as Stargardt's disease causal gene. 1996; Invest.Ophthalmol.Vis.Sci. 37: S991
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22. 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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23. 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
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Human Mutation Online

24. 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
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25. Small, K.W., Weber, J., Roses, A., and Pericak Vance, P. North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2. 1993; Ophthalmic Paediatr.Genet. 14: 143 - 150.
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26. 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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27. 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
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28. 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 [see comments]. 1994; Arch.Ophthalmol. 112: 765 - 772.
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29. Sun, H. and Nathans, J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments [letter]. 1997; Nat.Genet. 17: 15 - 16.
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30. 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
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31. 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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32. 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.
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33. 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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34. 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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35. 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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36. 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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37. 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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