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GTR Home > Conditions/Phenotypes > Reis-Bucklers corneal dystrophy

Reis-Bucklers corneal dystrophy

Synonyms
Corneal Dystrophy of Bowman Layer, Type 1; Corneal dystrophy Reis Bucklers type; Corneal dystrophy geographic; GRANULAR CORNEAL DYSTROPHY, TYPE III; Reis Bucklers dystrophy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Reis-Bucklers corneal dystrophy (CDRB) is an autosomal dominant disorder of the superficial corneal stroma that manifests as recurrent corneal erosions in early childhood. Affected individuals develop corneal opacities that result in significant visual impairment. Microscopically, CDRB may be differentiated from other forms of corneal dystrophy by confluent opacities in the Bowman layer and subepithelium, which are the product of extracellular bodies that stain red with Masson trichrome stain and appear as crystalloid rod-shaped bodies on transmission electron microscopy (summary by Tanhehco et al., 2006). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1, TGFBI
    Summary: transforming growth factor beta induced

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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