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Fuchs endothelial corneal dystrophy (FECD) MIM#136800 and posterior polymorphous corneal dystrophy (PPCD) MIM#122000 both belong to the corneal endothelial dystrophies in which endothelial dysfunction can lead to corneal oedema. In addition, they both share the common features of endothelial metaplasia and the secretion of an abnormal Descemet’s membrane as a pathological posterior collagenous layer (PCL) with a small or absent posterior non-banded zone.1,2
The exact cause of both FECD and PPCD is still unknown, although both are thought to be the result of a disorder of neural crest terminal differentiation.3 Mutations in COL8A2, the gene for the α2(VIII) chain of type VIII collagen, have previously been described in patients with both FECD and PPCD,4,5 and type …
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