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R. Rigault de la Longrais, A.M. Fea, A. Gomez, G. Restagno, F. Cardillo Piccolino, F.M. Grignolo; Is Apo-E Implicated in ARMD? . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1803.
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Purpose: age-related macular degeneration is the leading cause of low vision in the older population. Genetic causes are difficult to investigate due to clinical eterogeneity and age-related incidence. Nevertheless twin and population studies seem to poin out a significant role of genetic factors in the etiology of the disease. In the last few years the interest have been concentrated on the apoE polimorphysm. ApoE is important in the cholesterol and in the genesis of some neurodegenerative disorders (Altzheimer). The role of ApoE in ARMD is still debated. Methods: After digesting DNA with restriction enzymes, PCR was performed in 76 (43 prevalently classic; 18 prevalently occult; 15 soft drusen and atrophic) ARMD patients (mean age: 77.3; range 57-90 yrs). ARMD was diagnosed using ophthalmoscopy, fluoroangiography and indocyanine angiography. Allelic frequencies were compared to 86 age and sex-matched subjects and to 116 Alzheimer patients (Chi-squared analysis). Results: The allelic frequency of ARMD patients was not significantly different compared to the healthy controls. Epsilon 4 was significantly more represented in late-onset Alzheimer patients that in ARMD patients. Conlusions: Although ApoE polymorphysm definitely plays a role in some degenerative disease, in our sample of advanced ARMD patients we could not demonstate any difference in terms of allelic distribution compared to controls.
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