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GTR Home > Conditions/Phenotypes > Groenouw corneal dystrophy type I

Groenouw corneal dystrophy type I

Synonyms
Corneal dystrophy punctate or nodular; GRANULAR CORNEAL DYSTROPHY, TYPE I
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Groenouw type I, or granular type I, corneal dystrophy (CDGG1) is an autosomal dominant disorder characterized by irregular aggregates of hyaline material in the corneal stroma. These aggregates can cause significant visual disturbance and may require corneal transplantation for restoration of visual acuity or for relief from recurrent corneal erosions (summary by Stone et al., 1994). [from OMIM]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 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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