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The number of conditions linked to this phenotype has continued to widen with specific endophenotypes found within the pachychoroid spectrum. The spectrum includes choroidal features such as focal or diffuse choroidal thickening and thinning of the overlying inner choroid, and choroidal hyperpermeability as demonstrated by indocyanine green angiography. In addition, these diseases are associated with overlying retinal pigmentary changes and retinal pigment epithelial dysfunction and may also be associated with choroidal neovascularization. This article provides a comprehensive review of the literature looking at diseases currently described within the pachychoroid spectrum including central serous chorioretinopathy, pachychoroid pigment epitheliopathy, pachychoroid neovasculopathy, polypoidal choroidal vasculopathy\/aneurysmal type 1 neovascularization, peripapillary pachychoroid disease and focal choroidal excavation. We particularly focus on clinical imaging, genetics and pathological findings in these conditions with the aim of updating evidence suggesting a common aetiology between diseases within the pachychoroid spectrum.<\/jats:p>","DOI":"10.1111\/aos.14683","type":"journal-article","created":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T23:23:59Z","timestamp":1606778639000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":85,"title":["Pachychoroid spectrum disease"],"prefix":"10.1111","volume":"99","author":[{"given":"Shyamanga","family":"Borooah","sequence":"first","affiliation":[{"name":"Shiley Eye Institute University of California San Diego La Jolla CA USA"},{"name":"Moorfields Eye Hospital NHS Foundation Trust London UK"},{"name":"Centre for Clinical Brain Sciences School of Clinical Sciences University of Edinburgh Edinburgh 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