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Autosomal dominant keratitis

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Description

Keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior segment of the eye. The major clinical symptoms are anterior stromal corneal opacification and vascularization of the peripheral cornea. Progression of the opacification and vascularization into the central cornea may occur with corresponding reduction in visual acuity. Other anterior segment features include variable radial defects of the iris stroma and foveal hypoplasia (summary by Mirzayans et al., 1995).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

117

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Genes

External Links

  • OMIM

    148190

  • Orphanet

    2334

  • HPO
  • Medgen

    C1835698

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