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  • Title: Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
    Author: Marmorstein L.
    Journal: Ophthalmic Genet; 2004 Sep; 25(3):219-26. PubMed ID: 15512998.
    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.
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