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Arch Ophthalmol. 1999;117(1):108-109.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

NATURE GENETICS

Identification of the Gene Responsible for Best Macular Dystrophy

Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall, Wen Li, Guochun Xie, Towa Marknell, Ola Sandgren, Kristina Forsman, Gösta Holmgren, Sten Andreasson, Mihailo Vujic, Arthur A. B. Bergen, Valarie McGarty-Dugan, David Figueroa, Christopher P. Austin, Michael L. Metzker, C. Thomas Caskey, Claes Wadelius

Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. In pursuit of the disease gene, we limited the minimum genetic region by recombination breakpoint analysis and mapped to this region a novel retina-specific gene (VMD2). Genetic mapping data, identification of 5 independent disease-specific mutations and expression studies provide evidence that mutations within the candidate gene are a cause of BMD. The 3‘ UTR of the candidate gene contains a . . . [Full Text of this Article]