September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Complex Eye Disease
Author Affiliations & Notes
  • Anneke I Den Hollander
    Ankara University, Radboud Univ Nijmegen Med Ctr, Nijmegen, Netherlands
  • Footnotes
    Commercial Relationships   Anneke Den Hollander, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, No Pagination Specified. doi:
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      Anneke I Den Hollander; Complex Eye Disease. Invest. Ophthalmol. Vis. Sci. 201657(12):.

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      © 2017 Association for Research in Vision and Ophthalmology.

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Abstract

Presentation Description : In the recent past, major progress has been made in the identification of genes involved in common, complex eye diseases. Studies were initially designed to identify genetic variants that are common in the population, but with the development of next-generation sequencing technologies the focus has shifted towards the discovery of rare variants. Genetic variants at hundreds of loci have been identified that are associated with age-related macular degeneration, glaucoma, myopia, retinal detachment, corneal dystrophies and diabetic retinopathy. These studies have led to a better understanding of the molecular disease mechanisms and have provided new targets for treatment. Despite the significant progress that has been made, important challenges remain, including the identification of the remaining genetic causes, which will require large, multicenter cohorts and data harmonisation, the design of reliable predictive tests, and understanding the functional effects of the associated genetic variants.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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