May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Study of Inbreeding of Age–Related Macular Degeneration in a Genetically Isolated Population
Author Affiliations & Notes
  • D.D. G. Despriet
    Ophthalmology,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • F. Liu
    Epidemiology & Biostatistics,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • J.R. Vingerling
    Ophthalmology,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • B.A. Oostra
    Clinical Genetics,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • C.M. van Duijn
    Epidemiology & Biostatistics,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • C.C. W. Klaver
    Ophthalmology,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • Footnotes
    Commercial Relationships  D.D.G. Despriet, None; F. Liu, None; J.R. Vingerling, None; B.A. Oostra, None; C.M. van Duijn, None; C.C.W. Klaver, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 3198. doi:
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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)

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Abstract

Abstract: : 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.

Keywords: age-related macular degeneration • genetics • clinical (human) or epidemiologic studies: risk factor assessment 
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