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GTR Home > Conditions/Phenotypes > Familial cavitary optic disk anomaly

Familial cavitary optic disk anomaly

Synonyms
Cavitary optic disc anomalies; Cavitary optic disc anomaly; Familial cavitary optic disc anomaly
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare genetic eye disease with characteristics of congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss. [from SNOMEDCT_US]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CODA, MMP18, RASI-1, MMP19
    Summary: matrix metallopeptidase 19

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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