The challenge of predicting macular degeneration

Abstract

This commentary critically evaluates the limitations of genetic risk predictions in multifactorial disease, with specific reference to age-related macular degeneration (AMD). AMD is a common blinding disease with 33 million people worldwide experiencing vision impairment. Although gene polymorphism combinations infer an up to 50-fold increased risk of developing the disease, we are far from predicting AMD based on genetics. In the case of complex multifactorial disease such as AMD, to have the same predictive certainty that exists for monogenic disorders, we must account for all gene–environment interactions. We discuss sensitive vision tests that reflect causal gene–environment mechanisms and their potential in AMD risk prediction.

Transparency

Declaration of funding

Supported by a Queensland University of Technology Vice Chancellor Fellowship Grant (BF) – the funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Declaration of financial/other relationships

B.F. and C.P.M. have disclosed that they have no significant relationships with or financial interests in any commercial companies related to this study or article.

Acknowledgements

We thank Dr Andrew J. Zele for review of a manuscript draft.