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EFEMP1 is not associated with sporadic early onset drusen

Sauer, C. G. ; White, K. ; Kellner, U. ; Rudolph, G. ; Jurklies, B. ; Pauleikhoff, D. ; Weber, Bernhard H. F.


The early onset of multiple drusen in the posterior pole of the retina is characteristic of a group of macular dystrophies often referred to as dominant or radial drusen. At least two forms, Doyne honeycomb retinal dystrophy (DHRD) and Malattia Leventinese (MLVT), are associated with a single missense mutation (R345W) in the gene encoding the EGF-containing fibulin-like extracellular matrix ...


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