EyeWiki:Featured article/April 01, 2020

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Featured Article for March 31, 2020

Congenital Hereditary Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy (CHED), one of the Congenital Corneal Opacities (CCO), is a bilateral corneal condition characterized by cloudy cornea that may be present from birth or may be infantile in onset. As a consequence of the endothelial dystrophy, the cornea becomes edematous, which leads to a degradation in the patient’s vision.

CHED has been traditionally classified as either an Autosomal Dominant (CHED 1) or an Autosomal Recessive (CHED 2) variant. However, thanks to advances in corneal imaging and genetic analysis, this classification has recently been revisited and modified. A review of medical literature rendered a total of 5 families that presented with an autosomal dominant inheritance of CHED. After careful scrutiny, Aldave et al discovered that only 1 out of the 5 families, described by Pearce et al presented enough evidence of following an autosomal dominant pattern of inheritance that concurs with CHED 1.