Congenital Hereditary Endothelial Dystrophy

Congenital hereditary endothelial dystrophy (CHED) presents as bilateral corneal opacification present at birth or in the immediate newborn period and is due to an autosomal recessive mutation affecting the corneal endothelium.[1][2] Opacification is the result of stromal edema and Descemet membrane thickening due to endothelial dysfunction.[3] The current treatment for CHED is surgical, requiring a corneal tissue graft either by penetrating keratoplasty (PK) or endothelial keratoplasty (EK).[2] Recent studies have also shown promise in treatment with NSAIDs for certain mutational variants of the disease. Delaying treatment of CHED can result in poor visual development and amblyopia.[4][5]