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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.

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Department of Ophthalmology, University of Arizona, Tuscon, USA.


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.

[Indexed for MEDLINE]

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