In 1925, Vogt desribed a form of macular degeneration with a radial distribution of drusen in patients living in the Leventine valley in the Ticino canton of southern Switzerland. This disease has had many names, including dominant radial drusen, Doyne's honeycomb choroiditis, and Malattia Leventinese. Ophthalmoscopically, the drusen in these patients typically is arranged in a radial distribution.
Autosomal dominant radial drusen (Malattia leventinese) is characterized by macular drusen that is distributed in a radial pattern.
Four large families with dominant radial drusen were studied using linkage analysis. In 1996, we reported that the location of the disease-causing gene lies on the short arm of chromosome 2. In 1999 we discovered the disease causing gene which causes autosomal dominant drusen.This discovery will greatly aid research into drusen and it is hoped ultimately age related macular degeneration.
Reference: Nat Genet 1999 Jun;22(2):199-202 A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Stone EM, Lotery AJ, Munier FL, Heon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF
