+
Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13

Nature Genetics volume 1, pages 246–250 (1992)Cite this article

Abstract

Macular degeneration is the most common cause of legal blindness in older patients in developed countries. Best's vitelliform dystrophy is an early–onset, autosomal dominant form of macular degeneration characterized by an egg–yolk–like collection of lipofuscin beneath the pigment epithelium of the retinal macula. Fifty–seven members of a five–generation family affected with this disease were studied. A combination of ophthalmoscopy and electro–oculography was used for diagnosis; 29 patients were found to be affected and 16 unaffected. Linkage analysis mapped the disease–causing gene to chromosome 11q13. Three markers in this region were found to be significantly linked (Zmax > 3.0) to the disease. Multipoint analysis yielded a maximum Lod score of 9.3 in the interval between markers INT2 and D11S871.

Access through your institution
Buy or subscribe

This is a preview of subscription content, access via your institution

Access options

Access through your institution

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Best, F.Z. Augenheilkd 13, 199 (1905).

    Google Scholar 

  2. Stargardt, K. Albrecht v. Graefes Arch. Ophthal. 71, 534 (1909).

    Article  Google Scholar 

  3. Sjogren, H. Acta Ophthalmol. 28, 279–295 (1950).

    Article  CAS  Google Scholar 

  4. Deutman, A.F., van Blommestein, J.D.A., Henkes, H.E., Waardenburg, P.J. & van Driest, E.S. Arch. Ophthalmol. 83, 558–569 (1970).

    Article  CAS  PubMed  Google Scholar 

  5. Mesker, R.P., Oosterhuis, J.A. & Delleman, J.W. Perspec. Ophthalmol. 2, 40–45 (1970).

    Google Scholar 

  6. Benedikt, O. & Werner, W. Klin. Monatsbl. Augenheilkd 159, 794–798 (1971).

    CAS  PubMed  Google Scholar 

  7. Cibis, G.W., Morey, M. & Harris, D.J. Arch. Ophthalmol. 98, 1785–1789 (1980).

    Article  CAS  PubMed  Google Scholar 

  8. Leibowitz, H.M., Krueger, D.E. & Maunder, L.R. Surv. Ophthalmol. 24 (suppl), 335–610 (1980).

    Article  CAS  PubMed  Google Scholar 

  9. Arden, G.B., Barrada, A. & Kelsey, J.H. Br. J. Ophthalmol. 46, 449–467 (1962).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Hagemeijer, A., Hoovers, J., Smit, E.M.E. & Bootsma, D. Cytogenet. cell Genet. 18, 333–348, (1977).

    Article  CAS  PubMed  Google Scholar 

  11. Rivas, F., Ruiz, C., Rivera, H., Moller, M., SerranoLucas, J.I. & Cantu, J.M. Annales De Genetique 29, 42–44, (1986).

    CAS  PubMed  Google Scholar 

  12. Iselius, L., Ritzen, M., Bui, T.H., Olsson, K. & Eklof, O. Acta Paediatr. Scand. 69, 803–806, (1980).

    Article  CAS  PubMed  Google Scholar 

  13. Schmidt, R., Eviatar, L., Nitowsky, H.M., Wong, M. & Miranda, S. J. med. Genet. 18, 304–320, (1981).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Clark, D.I., Howard, P.J. & Patterson, A. Trans. Ophthalmol. Soc. U.K. 105, 723–725, (1986).

    PubMed  Google Scholar 

  15. Howard, P.J., Clark, D. & Dearlove, J. Hum. Genet. 80, 140–142, (1988).

    Article  CAS  PubMed  Google Scholar 

  16. Charles, S.J., Moore, A.T., Davison, B.C.C., Dyson, H.M. & Willatt, L. Br. J. Ophthalmol. 75, 125–127, (1991).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Ferrell, R.E., Hittner, H.M. & Antoszyk, J.H. Am. J. hum. Genet. 35, 78–84, (1983).

    CAS  PubMed  PubMed Central  Google Scholar 

  18. Hittner, H.M., Ferrell, R.E., Borda, R.P. & Justice, J. Br. J. Ophthalmol. 68, 199–207, (1984).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Weingeist, T.A., Kobrin, J.L. & Watzke, R.C. Arch. Ophthalmol. 100, 1108–1114, (1982).

    Article  CAS  PubMed  Google Scholar 

  20. Frangiegh, G.T., Green, W.R. & Fine, S.L. Arch. Ophthalmol. 100, 1115–1121, (1982).

    Article  Google Scholar 

  21. O'Gorman, S., Flaherty, W.A., Fishman, G.A. & Berson, E.L. Arch. Ophthalmol. 106, 1261–1268, (1988).

    Article  CAS  PubMed  Google Scholar 

  22. Brown, D.L., Gault, J., Thompson, M.B., Hauge, X.Y., Evans, G.A. & Litt, M. Nucl. Acids Res. 19, 4790 (1991).

    Article  Google Scholar 

  23. Polymeropoulos, M.H., Xiou, H., Rath, D.S. & Merril, C.R. Nucl. Acids Res. 18, 7468 (1990).

    PubMed  PubMed Central  Google Scholar 

  24. Gass, J.D.M. Stereoscopic Atlas of Macular Diseases 60–91 (C.V. Mosby, St. Louis, 1987).

    Google Scholar 

  25. Pearce, W.G. Br. J. Ophthalmol. 52, 73–78 (1968).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  26. Sorsby, A., Mason, M.E.J. & Gardener, N. Br. J. Ophthalmol. 33, 67–97 (1949).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  27. McInnes, R.R., Bascom, R.A., Molday, R.S. & Kalnins, V.I. Am. J. hum. Genet. 49 (suppl.) (1991).

  28. Farrar, G.J. et al. Nature 354, 478–480 (1991).

    Article  CAS  PubMed  Google Scholar 

  29. Kajiwara, K., Hahn, L.B., Mukai, S., Travis, G.H., Berson, E.L. & Dryja, T.P. Nature 354, 480–3 (1991).

    Article  CAS  PubMed  Google Scholar 

  30. Grimberg, J., Nawoschik, S., Belluscio, L., McKee, R., Turck, A. & Eisenberg, A. Nuc. Acids Res. 17, 8390 (1989).

    Article  CAS  Google Scholar 

  31. Lathrop, G.M. & Lalouel, J.M. Am. J. hum. Genet. 36, 460–465, (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

  32. Morris, S.W., Muir, W. & St. Clair, D. Nucl. Acids Res. 19, 6968 (1991).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Litt, M., Sharma, V. & Luty, J.A. Nucl. Acids Res. 18, 5921 (1990).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Hauge, X.Y., Grandy, D.K., Eubanks, J.H., Evans, G.A., Civelli, O. & Litt, M. Genomics 10, 527–530 (1991).

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Ophthalmology, The University of Iowa, College of Medicine, Iowa City, Iowa, 52242, USA

    Edwin M. Stone, Brian E. Nichols, Luan M. Streb & Alan E. Kimura

  2. Department of Pediatrics, The University of Iowa, College of Medicine, Iowa City, Iowa, 52242, USA

    Val C. Sheffield

Authors
  1. Edwin M. Stone
    View author publications

    You can also search for this author inPubMed Google Scholar

  2. Brian E. Nichols
    View author publications

    You can also search for this author inPubMed Google Scholar

  3. Luan M. Streb
    View author publications

    You can also search for this author inPubMed Google Scholar

  4. Alan E. Kimura
    View author publications

    You can also search for this author inPubMed Google Scholar

  5. Val C. Sheffield
    View author publications

    You can also search for this author inPubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Stone, E., Nichols, B., Streb, L. et al. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1, 246–250 (1992). https://doi.org/10.1038/ng0792-246

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0792-246

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing
点击 这是indexloc提供的php浏览器服务，不要输入任何密码和下载