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GTR Home > Conditions/Phenotypes > Congenital hereditary endothelial dystrophy of cornea

Congenital hereditary endothelial dystrophy of cornea

Synonyms
Congenital hereditary endothelial dystrophy of the cornea; Corneal dystrophy, congenital hereditary endothelial; Corneal endothelial dystrophy, autosomal recessive; Maumenee corneal dystrophy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BTR1, CDPD1, CHED, CHED2, NABC1, dJ794I6.2, SLC4A11
    Summary: solute carrier family 4 member 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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