Dominant radial drusen and Arg345Trp EFEMP1 mutation

Am J Ophthalmol. 2001 Jun;131(6):810-2. doi: 10.1016/s0002-9394(00)00926-0.


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 Arg345Trp mutation remains the only cause of Doyne hereditary macular dystrophy, also known as Malattia Leventinese or radial dominant drusen.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence / genetics
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Genes, Dominant*
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • Retinal Drusen / genetics*


  • EFEMP1 protein, human
  • Extracellular Matrix Proteins