Article
Dominant radial drusen and Arg345Trp EFEMP1 mutation.
American journal of ophthalmology - 1 Jun 2001
Matsumoto M, Traboulsi E I
Abstract excerpt
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 fibrosis and visual loss. An Arg345Trp mutation of the EFEMP1 gene was detected in three affected family members, but not in three unaffected members. CONCLUSION: The...
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