Dominant radial druen and Arg345Trp EFEMP1 mutation

PURPOE: To report a new North American family with dominant radial druen and Arg345Trp mutation in the EFEMP1 gene. METHOD: Clinical and molecular genetic family tudy. REULT: Four family member had macular druen, and one had ubmacular fibroi and viual lo. An Arg345Trp mutation of the EFEMP1 gene wa detected in three affected family member, but not in three unaffected member. CONCLUION: The Arg345Trp mutation remain the only caue of Doyne hereditary macular dytrophy, alo known a Malattia Leventinee or radial dominant druen.