Differential Diagnosis of Age-Related Macular Degeneration

A diagnosis of age-related macular degeneration (AMD) may have a significant impact on a patient's life. Therefore, it is important to consider differential diagnoses, as these can differ considerably from AMD regarding prognosis, inheritance, monitoring and therapy. Differential diagnoses include other macular diseases with drusen, drusen-like changes, monogenic retinal dystrophies, as well as a wide range of other, often rare macular diseases. In this review, clinical examples are presented that illustrate alternative diagnoses to AMD and when these should be considered. These include, amongst others, patients with autosomal dominant drusen, Sorsby fundus dystrophy, pachydrusen, late-onset Stargardt disease, extensive macular atrophy with pseudodrusen (EMAP), pseudoxanthoma elasticum (PXE), North Carolina macular dystrophy, mitochondrial retinopathy, benign yellow dot maculopathy, dome- or ridge-shaped maculopathy, or macular telangiectasia type 2.