Dominant radial drusen and Arg345Trp EFEMP1 mutation

PURPOSE: To report a new North American family with dominant radial drusen and Arg345Trp mutation in the EFEMP1 gene. METHODS: Clinical and molecular genetic family study. RESULTS: Four family members had macular drusen, and one had submacular fib rosis and visual loss. An Arg345Trp mutation of the EFEMP1 gene was detecte d a in three affected family members, but not in three unaffected members. CONCLUSION: The Arg345Trp mutation remains the only cause of Doyne heredita ry macular dystrophy, also known as Malattia Leventinese or radial dominant drusen. (Am J Ophthalmol 2001;131:810-812. (C) 2001 by Elsevier Science In c. All rights reserved.).