Contributor: Gordon K. Klintworth
Congenital hereditary endothelial dystrophy is a bilateral inherited disorder of the cornea characterized by a corneal stroma that is markedly thickened (2-3x thicker than normal) with a diffuse ground-glass milky appearance. The condition has both an autosomal recessive [congenital hereditary endothelial dystrophy - autosomal recessive] and an autosomal dominant pattern [congenital hereditary endothelial dystrophy - autosomal dominant] mode of inheritance. The autosomal recessive stationary type is more common and is present at birth; the less frequent autosomal dominant type appears in the first or second year. The corneal stroma contains some enlarged collagen fibrils. congenital hereditary endothelial dystrophy is inherited in a more common autosomal recessive or a less frequent autosomal dominant pattern. Since the disorder is rare, further studies are needed to clarify the clinical distinctions between these two genetic forms. The autosomal recessive type is present at birth, remains stationary and asymptomatic, and is accompanied by nystagmus, while the autosomal dominant type appears in the first or second year with photophobia and tearing, progresses slowly over 5-10 years, and lacks nystagmus. The diffuse corneal edema [edema - cornea] of posterior polymorphous dystrophy may simulate congenital hereditary endothelial dystrophy, but the corneas are thicker in the latter condition. In cases of congenital hereditary endothelial dystrophy where bilateral corneal opacification is severe, penetrating keratoplasty is the only hope for improved vision.