Similarities between Posterior Polymorphous and Congenital Hereditary Endothelial Dystrophies

Biology of the corneal endothelium in health and disease

“…21 The third primary corneal endotheliopathy, congenital hereditary endothelial dystrophy (CHED), is a bilateral disorder of the corneal endothelium like PPD, except that the entire endothelium is involved at birth so that the cornea is congenitally cloudy. There is some overlap between PPD and CHED, both pathologically, 22,23 and genetically. [24][25][26][27] A recent study found two families with Fuchs' dystrophy and a family with PPD with the same mutation in the gene for collagen VIII.…”

Endothelial and Epithelial-Like Cell Formations in a Case of Posterior Polymorphous Dystrophy

“…Accepted for publication April 8,1985. There was no history of corneal disease in other members of this patient's family.…”

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

“…CHED is characterized by thickening and opacification of the cornea, altered morphology of the endothelium and secretion of an abnormal collagenous layer at Descemet's membrane 1,2 . Though rare, it is phenotypically similar to Fuchs endothelial dystrophy, a common disease of aging.…”