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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/614224