Congenital hereditary endothelial dystrophy

From Wikipedia, the free encyclopedia
Jump to: navigation, search
A markedly opaque cornea due to corneal edema secondary to defective endothelial cells (Courtesy of Dr. Ahmed A. Hidajat)

Congenital hereditary corneal dystrophy (CHED) is a form of corneal dystrophy which presents at birth.

Genetics[edit]

CHED has two types:

  • type I or the autosomal dominant form.
  • type II or the autosomal recessive form is linked to mutations in SLC4A11 gene

Clinical presentation[edit]

In the recessive form corneal clouding is observed at birth or within the neonatal period, nystagmus is often present, but no photophobia or epiphora is seen. In the autosomal dominant type corneal opacification is usually seen in the first or second year of life and progresses slowly, and nystagmus is infrequently seen.

See also[edit]

References[edit]

  1. ^ Vithana EN, et al. (July 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat. Genet. 38 (7): 755–7. doi:10.1038/ng1824. PMID 16767101. 
  2. ^ Online 'Mendelian Inheritance in Man' (OMIM) 217700
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) 121700