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D.D. G. Despriet, F. Liu, J.R. Vingerling, B.A. Oostra, C.M. van Duijn, C.C. W. Klaver; Study of Inbreeding of Age–Related Macular Degeneration in a Genetically Isolated Population . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3198.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To study inbreeding of age–related macular degeneration (AMD) in a genetically isolated population in the Netherlands. Methods: The Erasmus Rucphen Family (ERF) study is a large family–based cohort study, set in a recent genetically isolated population in the southwest of the Netherlands. Eligibles are descendants of twenty couples living in this community in the 19th century who had given birth to at least 6 children. Participants aged 70 years and older with end–stage AMD (graded according to the international classification system) were selected for these preliminary analyses. The number of consanguineous loops in the family of every individual was ascertained and the inbreeding coefficient was determined for every person. Results: We ascertained 10 individuals with end–stage AMD (geographic atrophy or neovascular macular degeneration). The average number of consanguineous loops in the families of the AMD patients is 121.2. We found a higher inbreedingscoefficient in the cases compared to the general inbreedingscoefficient of our population (0.0073 vs 0.0062; P=0.64). Conclusions: These preliminary results may indicate inbreeding in persons with AMD, suggesting a recessive mutation.
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