Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations.

doi:10.1016/j.ophtha.2016.11.018

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Article

Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations.

Ophthalmology - 1 Apr 2017

Nag Abhishek, Lu Han, Arno Matthew, Iglesias Adriana I, Bonnemaijer Pieter, Broer Linda, Uitterlinden Andre G, Klaver Caroline C W, van Duijn Cornelia, Hysi Pirro G, Hammond Christopher J

Abstract excerpt

PURPOSE: Sequence variations in the myocilin (MYOC) gene account for approximately 2% to 4% of glaucoma cases. One particular MYOC mutation, Gln368Stop (dbSNP accession number: rs74315329), is the most common genetic mutation causing glaucoma by increasing intraocular pressure (IOP). The objective of this study was to evaluate the effect of this MYOC mutation on IOP using data from large-scale European population...

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PMID: 28038983
DOI: 10.1016/j.ophtha.2016.11.018

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MYOC

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