Abnormal representations in the visual cortex of patients with albinism

A characteristic feature of patients with albinism is the misrouting of the optic nerves, which causes the visual cortex to receive an abnormal input. This report details how the detection of misrouting using visual evoked potentials assists the clinical diagnosis of albinism. Further, it shows how the projection abnormality observed in patients with albinism provides a model for investigating the self-organisation of the human visual cortex. This is highlighted by recent findings that were obtained using functional magnetic resonance imaging, visual evoked potentials, and static visual field perimetry.