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GTR Home > Conditions/Phenotypes > Corneal dystrophy, posterior polymorphous, 4

Corneal dystrophy, posterior polymorphous, 4

Summary

PPCD4 is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape. There is inter- and intrafamilial as well as intraindividual variability. Symptoms can include blurred vision due to corneal edema, reduced visual acuity, secondary glaucoma, and corectopia; some affected individuals are asymptomatic. Rare patients have undergone enucleation for painful eye (Liskova et al., 2018). For a discussion of genetic heterogeneity of PPCD, see 122000. [from OMIM]

Available tests

9 tests are in the database for this condition.

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Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BOM, DFNA28, ECTDS, PPCD4, TFCP2L3, GRHL2
    Summary: grainyhead like transcription factor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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