Pulse Brain · Growing Health Evidence Index
Peer-reviewed

IMI – Myopia Genetics Report

Milly S. Tedja, Annechien E. G. Haarman, Magda A. Meester‐Smoor, Jaakko Kaprio, David A. Mackey, Jeremy A. Guggenheim, Christopher J. Hammond, Virginie J. M. Verhoeven, Caroline C. W. Klaver

Investigative Ophthalmology & Visual Science · 2019

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Summary

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 with those for common myopia. Polygenic risk scores show overrepresentation of high myopia in the h

Source type
Peer-reviewed study
DOI
10.1167/iovs.18-25965
Catalogue ID
SNmohbayyw-uvv3p8
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