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Review
. 2018 May;32(5):849-857.
doi: 10.1038/eye.2017.245. Epub 2017 Nov 10.

Genetics and genetic testing for age-related macular degeneration

A Warwick  1 , A Lotery  2
Affiliations
Review

Genetics and genetic testing for age-related macular degeneration

A Warwick et al. Eye (Lond). 2018 May.

Abstract

Considerable advances have been made in our understanding of age-related macular degeneration (AMD) genetics over the past decade. The genetic associations discovered to date are estimated to account for approximately half of AMD heritability, and functional studies of these variants have revealed new insights into disease pathogenesis, leading to the development of potential novel therapies. There is furthermore growing interest in genetic testing for predicting an individual's risk of AMD and offering personalised preventive or therapeutic treatments. We review the progress made so far in AMD genetics and discuss the possible applications for genetic testing.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
An example of a receiver-operating characteristic (ROC) curve. The solid black line represents an area under the ROC (AUC) of 0.5, which indicates random chance. The dashed black line indicates an AUC of 1.0, a perfect model. The dotted grey line represents an ROC curve with an AUC between 0.5 and 1.0, as may be generated by a predictive risk model. Specificity decreases with increasing sensitivity.
See this image and copyright information in PMC

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