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GTR Home > Conditions/Phenotypes > Epithelial recurrent erosion dystrophy

Epithelial recurrent erosion dystrophy

Synonyms
CORNEAL EROSIONS, RECURRING HEREDITARY
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Epithelial recurrent erosion dystrophy (ERED) is characterized by frequent painful recurrent corneal erosions, with onset in the first decade of life and subsequent gradual decrease in frequency, with cessation in the third or fourth decade. Small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity, in the Bowman layer and immediately subjacent anterior stroma, varying from 0.2 to 1.5 mm in diameter, appear to be clinically diagnostic of ERED (Oliver et al., 2016). [from OMIM]

Available tests

11 tests are in the database for this condition.

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Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BA16H23.2, BP180, BPA-2, BPAG2, ERED, JEB4, LAD-1, COL17A1
    Summary: collagen type XVII alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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