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GTR Home > Conditions/Phenotypes > Autosomal dominant keratitis

Autosomal dominant keratitis

Synonyms
Dominantly inherited keratitis; Keratitis, hereditary
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

46 tests are in the database for this condition.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR, PAX6
    Summary: paired box 6

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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