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NR 4-6/2008
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Zwyrodnienie plamki
związane z wiekiem (AMD) – choroba o wieloczynnikowym podłożu
genetycznym
Age-related macular
degeneration – a complex genetic disease
Katarzyna Antoniak, Wojciech Bienias,
Jerzy Z. Nowak
Z Zakładu Farmakologii Uniwersytetu Medycznego w Łodzi
Kierownik: prof. dr hab. Jerzy Nowak |
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| Summary: |
Age-related macular
degeneration (AMD,) is the most common cause of severe
visual loss and blindness in the population over 60
years old, especially in the developed world. Two types
of AMD are distinguished: the dry (non-exudative or
atrophic) and the wet (exudative or neovascular) form.
Family and twins studies have shown that the
susceptibility for this disease is genetically
influenced and the heritability has been estimated to be
up to 75%. Until now, many of the candidate-genes
associated with AMD have been discovered using studies
on genetically engineered and naturally mutated animals,
linkage studies, studies of monogenic degenerative
retinal diseases and association studies. Recently genes
have been described that significantly contribute to the
etiopathogenesis of AMD: CFH, PLEKHA1/LOC387715/HTRA1
and C2/BF genes.
AMD is considered to be a genetic complex disease in
which multiple genes and environmental factors play a
role in pathogenesis. Identification of other genes
involved in development of AMD will improve our
knowledge about new pathways and pathological mechanisms
of the disease, as well as avenues for novel more
effective treatments.
The aim of this article is to survey published data on
genetic aspect of AMD, with emphasis of several recently
discovered genes described to be particularly important
in the pathogenesis of AMD, and /or somehow associated
with the occurrence of the disease. |
| Słowa kluczowe: |
zwyrodnienie plamki
związane z wiekiem, AMD, geny, środowisko, polimorfizm
genetyczny, druzy, neowaskularyzacja. |
| Key words: |
Age-related macular
degeneration, AMD, genes, environment, genetic
polymorphism, drusen, neovascularization. |
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