Article
Challenges in phenotyping geographic atrophy
Search Medline for
Authors
Published: | February 5, 2020 |
---|
Outline
Text
Retinal atrophy is the end-stage manifestation of various retinal and choroidal diseases and thus not exclusive for AMD. The manifestation and lesion size progression of well-defined areas of atrophy – commonly called geographic atrophy – is also not limited to AMD. Multimodal retinal imaging allows for a better detection of retinal and choroidal changes and thus a refined phenotyping. This includes the differentiation between AMD and other macular diseases, causing outer retinal degeneration and atrophy in the same age group, but associated with a distinct genetic Background, such as late-onset Stargardt disease and central areolar choroidal dystrophy (CACD). Further, within AMD cohorts, distinct patterns outside atrophy can be detected, one of the most obvious phenotype being the diffuse-trickling pattern, showing several peculiar multimodal imaging findings, suspicious demographic observations with regards to general medical history and exhibiting a non-expected AMD genotype. Still in other situations, the differential diagnosis is challenging and not so clear. We are still in the process to further advance the AMD definition which requires a multidisciplinary approach. Today, it is quite evident that the term “AMD” is currently used too frequently rather than to further classify the degeneration in question, both in clinical management and also and explicitly in clinical research.