Article
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.
Human genetics - 1 Jun 1999
Allikmets R, Seddon J M, Bernstein P S, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker M L, Wadelius C, Caskey C T, Dean M, Petrukhin K
Abstract excerpt
Vitelliform macular dystrophy (VMD2, Best disease, MIM153700) is an early onset, autosomal, dominant macular degeneration characterized by the deposition of lipofuscin-like material within and below the retinal pigment epithelium (RPE); it is associated with degeneration of the RPE and overlying photoreceptors. Recently, we cloned the gene bestrophin, which is responsible for the disease, and identified a number...
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