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.
Similar content being viewed by others
References
Best, F.Z. Augenheilkd 13, 199 (1905).
Stargardt, K. Albrecht v. Graefes Arch. Ophthal. 71, 534 (1909).
Sjogren, H. Acta Ophthalmol. 28, 279–295 (1950).
Deutman, A.F., van Blommestein, J.D.A., Henkes, H.E., Waardenburg, P.J. & van Driest, E.S. Arch. Ophthalmol. 83, 558–569 (1970).
Mesker, R.P., Oosterhuis, J.A. & Delleman, J.W. Perspec. Ophthalmol. 2, 40–45 (1970).
Benedikt, O. & Werner, W. Klin. Monatsbl. Augenheilkd 159, 794–798 (1971).
Cibis, G.W., Morey, M. & Harris, D.J. Arch. Ophthalmol. 98, 1785–1789 (1980).
Leibowitz, H.M., Krueger, D.E. & Maunder, L.R. Surv. Ophthalmol. 24 (suppl), 335–610 (1980).
Arden, G.B., Barrada, A. & Kelsey, J.H. Br. J. Ophthalmol. 46, 449–467 (1962).
Hagemeijer, A., Hoovers, J., Smit, E.M.E. & Bootsma, D. Cytogenet. cell Genet. 18, 333–348, (1977).
Rivas, F., Ruiz, C., Rivera, H., Moller, M., SerranoLucas, J.I. & Cantu, J.M. Annales De Genetique 29, 42–44, (1986).
Iselius, L., Ritzen, M., Bui, T.H., Olsson, K. & Eklof, O. Acta Paediatr. Scand. 69, 803–806, (1980).
Schmidt, R., Eviatar, L., Nitowsky, H.M., Wong, M. & Miranda, S. J. med. Genet. 18, 304–320, (1981).
Clark, D.I., Howard, P.J. & Patterson, A. Trans. Ophthalmol. Soc. U.K. 105, 723–725, (1986).
Howard, P.J., Clark, D. & Dearlove, J. Hum. Genet. 80, 140–142, (1988).
Charles, S.J., Moore, A.T., Davison, B.C.C., Dyson, H.M. & Willatt, L. Br. J. Ophthalmol. 75, 125–127, (1991).
Ferrell, R.E., Hittner, H.M. & Antoszyk, J.H. Am. J. hum. Genet. 35, 78–84, (1983).
Hittner, H.M., Ferrell, R.E., Borda, R.P. & Justice, J. Br. J. Ophthalmol. 68, 199–207, (1984).
Weingeist, T.A., Kobrin, J.L. & Watzke, R.C. Arch. Ophthalmol. 100, 1108–1114, (1982).
Frangiegh, G.T., Green, W.R. & Fine, S.L. Arch. Ophthalmol. 100, 1115–1121, (1982).
O'Gorman, S., Flaherty, W.A., Fishman, G.A. & Berson, E.L. Arch. Ophthalmol. 106, 1261–1268, (1988).
Brown, D.L., Gault, J., Thompson, M.B., Hauge, X.Y., Evans, G.A. & Litt, M. Nucl. Acids Res. 19, 4790 (1991).
Polymeropoulos, M.H., Xiou, H., Rath, D.S. & Merril, C.R. Nucl. Acids Res. 18, 7468 (1990).
Gass, J.D.M. Stereoscopic Atlas of Macular Diseases 60–91 (C.V. Mosby, St. Louis, 1987).
Pearce, W.G. Br. J. Ophthalmol. 52, 73–78 (1968).
Sorsby, A., Mason, M.E.J. & Gardener, N. Br. J. Ophthalmol. 33, 67–97 (1949).
McInnes, R.R., Bascom, R.A., Molday, R.S. & Kalnins, V.I. Am. J. hum. Genet. 49 (suppl.) (1991).
Farrar, G.J. et al. Nature 354, 478–480 (1991).
Kajiwara, K., Hahn, L.B., Mukai, S., Travis, G.H., Berson, E.L. & Dryja, T.P. Nature 354, 480–3 (1991).
Grimberg, J., Nawoschik, S., Belluscio, L., McKee, R., Turck, A. & Eisenberg, A. Nuc. Acids Res. 17, 8390 (1989).
Lathrop, G.M. & Lalouel, J.M. Am. J. hum. Genet. 36, 460–465, (1984).
Morris, S.W., Muir, W. & St. Clair, D. Nucl. Acids Res. 19, 6968 (1991).
Litt, M., Sharma, V. & Luty, J.A. Nucl. Acids Res. 18, 5921 (1990).
Hauge, X.Y., Grandy, D.K., Eubanks, J.H., Evans, G.A., Civelli, O. & Litt, M. Genomics 10, 527–530 (1991).
Author information
Authors and Affiliations
Rights 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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0792-246
- Springer Nature America, Inc.
This article is cited by
-
Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports
BMC Ophthalmology (2012)
-
Multimodal fundus imaging in Best vitelliform macular dystrophy
Graefe's Archive for Clinical and Experimental Ophthalmology (2010)
-
Mapping of central visual function by microperimetry and autofluorescence in patients with Best's vitelliform dystrophy
Eye (2006)