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GTR Home > Conditions/Phenotypes > Retinal arterial tortuosity

Retinal arterial tortuosity

Synonyms
RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY; Retinal arteries, tortuosity of
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011). [from OMIM]

Available tests

37 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BSVD, BSVD1, COL4A1s, PADMAL, RATOR, COL4A1
    Summary: collagen type IV alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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