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. 2017 Feb 22;25(5):591–599. doi: 10.1038/ejhg.2017.9

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Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature.

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Vision gene panel revisions and genes carrying variants in the vision gene panel analysis. (a) The genes present in the vision gene panel were grouped into seven main types of inherited visual impairment. In the 3-year time period of this study, the vision gene panel, used in the first step of analysis, was updated three times. The initial version of the panel consisted mostly of genes known to cause syndromic and/or non-syndromic IRD. In the second update also genes known to cause syndromic and/or non-syndromic cataract or developmental eye defects were added. Furthermore, in each update, recently published inherited eye disease genes were added. (b) In the vision gene panel analysis (likely) causative variants were detected in 56 different inherited eye disease genes. USH2A, EYS, ABCA4 and RPGR carried most often the causative variant and taken together they are the responsible causative gene in more than a quarter of the cases in whom a genetic cause was detected. The other genes were implicated to cause disease in 4% or less of the cases.