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Isolated congenital megalocornea

Summary

Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23. [from SNOMEDCT_US]

Available tests

3 tests are in the database for this condition.

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Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHL, MGC1, MGCN, NRLN1, VOPT, dA141H5.1, CHRDL1
    Summary: chordin like 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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