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Congenital hereditary endothelial dystrophy of cornea

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Description

Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

20

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Genes

External Links

  • OMIM

    217700

  • Orphanet

    293603

  • HPO
  • Medgen

    C1857569

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