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Expression and Cell Compartmentalization of EFEMP1, a Protein Associated with Malattia Leventinese

  • Adam Kundzewicz
  • Francis Munier
  • Jean MarcMatter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 613)

Malattia Leventinese holds its name from the beautiful Leventine Valley in Ticino, Southern Switzerland, from which all the Swiss families touched by this disease come from. It is an autosomal, dominant retinal dystrophy, first described by ophthalmologists in 1925 (Vogt, 1925). A characteristic hallmark of Malattia Leventinese, extracellular, amorphous deposits known as drusen, between the retinal pigment epithelium (RPE) and Bruch’s membrane (Doyne, 1899), are also an early hallmark of age related macular degeneration (AMD), which accounts for approximately 50% of registered blindness in the developed world (Bressler et al., 1988). Malattia Leventinese exhibits features more consistent with AMD than any other heritable macular disorder so it is easy to understand why it should be considered as a burning issue, specially when taking into consideration the fact that the population affected by AMD is expected to nearly double in the next 25 years.

Keywords

Macular Degeneration Extracellular Matrix Protein Marfan Syndrome Human Retina Werner Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Adam Kundzewicz
    • 1
  • Francis Munier
    • 2
  • Jean MarcMatter
    • 3
  1. 1.Department of OphthalmologySchool of Medicine, University of Geneva1211 Geneva 14Switzerland
  2. 2.Eye Hospital Jules Gonin1004 LausanneSwitzerland
  3. 3.Department of OphthalmologySchool of Medicine, University of Geneva1211 Geneva14Switzerland

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