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.
- Age-related macular degeneration
- Doyne honeycomb retinal dystrophy
- Malattia leventinese
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health