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Ophthalmic Genet. 2004 Sep;25(3):219-26.

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

Author information

1
Department of Ophthalmology, University of Arizona, Tuscon, USA. lmarmorstein@eyes.arizona.edu

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.

PMID:
15512998
DOI:
10.1080/13816810490498305
[Indexed for MEDLINE]

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