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retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS)
Pathology:
- bilateral appearance of 'beading' along the major retinal artery trunks, with the subsequent formation of macroaneurysms
- affected individuals also have supravalvular pulmonic stenosis
Genetics:
- autosomal recessive
- associated with defects in IGFBP7
Management:
- supravalvular pulmonic stenosis often requires surgical correction
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 614224
References
OMIM :accession 614224