Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review

Ophthalmic Genet. 2004 Sep;25(3):219-26. doi: 10.1080/13816810490498305.


Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) was the first clinically and histopathologically described Mendelian maculopathy. The gene responsible for ML/DHRD, EFEMPI (fibulin-3/SI-5/FBNL) encodes a member of the fibulin family, a newly recognized family of extracellular matrix proteins. EFEMPImutations have not been found in age-related macular degeneration (AMD) patients despite the close phenotypic similarities between ML/DHRD and AMD. This non-correlating genotype/phenotype relationship between inherited and age-related conditions is typical for common age-related diseases. Biochemical pathways delineated in other diseases indicate that the gene associated with the inherited condition is nonetheless critical in age-related forms. This review summarizes current knowledge relating to ML/DHRD and EFEMPI,with discussion of why EFEMPI mutations are absent in AMD and how EFEMPI may be involved in the pathogenesis of ML/DHRD and AMD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Age Distribution
  • Extracellular Matrix Proteins / genetics*
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Retinal Drusen / genetics*
  • Retinal Drusen / pathology


  • EFEMP1 protein, human
  • Extracellular Matrix Proteins