The mapping of genotype to the phenotype of age-related macular degeneration (AMD) is expected to improve the
diagnosis and treatment of the disease in a near future. In this study, we focused on the first step to discover this
mapping: we identified visual patterns related to AMD which seem to be controlled by genetic factors, without explicitly
relating them to the genes. For this purpose, we used a dataset of eye fundus photographs from 74 twin pairs, either
monozygotic twins, who have the same genotype, or dizygotic twins, whose genes responsible for AMD are less likely to
be identical. If we are able to differentiate monozygotic twins from dizygotic twins, based on a given visual pattern, then
this pattern is likely to be controlled by genetic factors. The main visible consequence of AMD is the apparition of
drusen between the retinal pigment epithelium and Bruch's membrane. We developed two automated drusen detectors
based on the wavelet transform: a shape-based detector for hard drusen, and a texture- and color- based detector for soft
drusen. Forty visual features were evaluated at the location of the automatically detected drusen. These features
characterize the texture, the shape, the color, the spatial distribution, or the amount of drusen. A distance measure
between twin pairs was defined for each visual feature; a smaller distance should be measured between monozygotic
twins for visual features controlled by genetic factors. The predictions of several visual features (75.7% accuracy) are
comparable or better than the predictions of human experts.
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