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, 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 language | English (US) |
|---|---|
| Pages (from-to) | 219-226 |
| Number of pages | 8 |
| Journal | Ophthalmic Genetics |
| Volume | 25 |
| Issue number | 3 |
| DOIs | |
| State | Published - Sep 2004 |
Keywords
- Age-related macular degeneration
- Doyne honeycomb retinal dystrophy
- EFEMP1
- Malattia leventinese
- Mutation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Ophthalmology
- Genetics(clinical)