Journal article

IMI - Myopia Genetics Report

Milly S Tedja, Annechien EG Haarman, Magda A Meester-Smoor, Jaakko Kaprio, David A Mackey, Jeremy A Guggenheim, Christopher J Hammond, Virginie JM Verhoeven, Caroline CW Klaver, Joan E Bailey-Wilson, Paul Nigel Baird, Amutha Barathi Veluchamy, Ginevra Biino, Kathryn P Burdon, Harry Campbell, Li Jia Chen, Ching-Yu Cheng, Emily Y Chew, Jamie E Craig, Phillippa M Cumberland Show all

Investigative Ophthalmology and Visual Science | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2019

Abstract

The knowledge on the genetic background of refractive error and myopia has expanded dramatically in the past few years. This white paper aims to provide a concise summary of current genetic findings and defines the direction where development is needed. We performed an extensive literature search and conducted informal discussions with key stakeholders. Specific topics reviewed included common refractive error, any and high myopia, and myopia related to syndromes. To date, almost 200 genetic loci have been identified for refractive error and myopia, and risk variants mostly carry low risk but are highly prevalent in the general population. Several genes for secondary syndromic myopia overlap..

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Grants

Awarded by European Research Council (ERC) under the European Union's Horizon 2020 Research and Innovation Programme


Awarded by Netherlands Organisation for Scientific Research (NWO)


Awarded by National Eye Institute


Awarded by Uitzicht


Funding Acknowledgements

Supported by the European Research Council (ERC) under the European Union's Horizon 2020 Research and Innovation Programme (grant 648268); the Netherlands Organisation for Scientific Research (NWO, grant 91815655 and grant 91617076); the National Eye Institute (grant R01EY020483); Oogfonds; ODAS; and Uitzicht (grant 2017-28; Oogfonds; Landelijke Stichting voor Blinden en Slechtzienden; MaculaFonds). The International Myopia Institute provided funds to cover publication costs.