Congenital Hereditary Endothelial Dystrophy (CHED) is a heritable bilateral disorder of the corneal endothelium, resulting from hypoplasia or degeneration and dysfunction of the endothelial cells. CHED can be inherited in an autosomal dominant or autosomal recessive manner. Autosomal recessive CHED is a rare disorder presenting at birth or in early childhood, and is characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus and blurred vision. The clinical diagnosis of CHED is based on the presence of a diffuse corneal edema in the absence of any other anterior segment abnormality. Penetrating keratoplasty is the most preferred treatment for the patients even in advanced stages of the disease, which can provide marked visual improvement.
Homozygous mutations in the SLC4A11 (Sodium Bicarbonate Transporter?like Solute Carrier Family 4 Member 11) gene are associated with CHED. These mutations result in loss of protein function either by impeding membrane targeting or by nonsense-mediated decay.