title: Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
abstract: 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.
authors.affiliation: Department of Ophthalmology, University of Arizona, Tuscon, USA. lmarmorstein@eyes.arizona.edu
authors.forename: Lihua
authors.initials: L
authors.lastname: Marmorstein
mesh_terms: D017677:Age Distribution; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D015593:Retinal Drusen / Q000235:genetics* / Q000473:pathology
chemical_list: C119630:EFEMP1 protein, human; D016326:Extracellular Matrix Proteins