Robyn H. Guymer

TL;DR: The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.

TL;DR: A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis.

TL;DR: A combination of positional and candidate gene methods are used to identify a single non-conservative mutation in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) in all families studied, which may aid in the development of an animal model for drusen, as well as in the identification of other genes involved in human macular degeneration.

TL;DR: A classification system and criteria for OCT-defined atrophy in the setting of AMD has been proposed based on an international consensus and is a more complete representation of changes that occur in AMD than can be detected using color fundus photography alone.

TL;DR: A novel framework combining convolutional neural networks (CNN) and graph search methods (termed as CNN-GS) for the automatic segmentation of nine layer boundaries on retinal optical coherence tomography (OCT) images is presented.