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GTR Home > Conditions/Phenotypes > Familial retinal arterial macroaneurysm

Familial retinal arterial macroaneurysm

Synonyms
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction (summary by Abu-Safieh et al., 2011). [from OMIM]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGM, FSTL2, IBP-7, IGFBP-7, IGFBP-7v, IGFBPRP1, MAC25, PSF, RAMSVPS, TAF, IGFBP7
    Summary: insulin like growth factor binding protein 7

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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