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

Lihua Y. Marmorstein

Research output: Contribution to journalReview articlepeer-review

36 Scopus citations


Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) was the first clinically and histopathologically described Mendelian maculopathy. The gene responsible for ML/DHRD, EFEMP1 (fibulin-3/S1-5/FBNL) encodes a member of the fibulin family, a newly recognized family of extracellular matrix proteins. EFEMP1 mutations 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 EFEMP1, with discussion of why EFEMP1 mutations are absent in AMD and how EFEMP1 may be involved in the pathogenesis of ML/DHRD and AMD.

Original languageEnglish (US)
Pages (from-to)219-226
Number of pages8
JournalOphthalmic Genetics
Issue number3
StatePublished - Sep 2004


  • Age-related macular degeneration
  • Doyne honeycomb retinal dystrophy
  • EFEMP1
  • Malattia leventinese
  • Mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)


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