The retinal arterial macroaneurysm with supravalvular pulmonic stenosis is an autosomal recessive disorder characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Patients with RAMSVPS also have supravalvular pulmonic stenosis, often requiring surgical correction.
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis has been linked to chromosome 4q12, in which mutations in the insulin-like growth factor (IGF)-binding protein 7 (IGFBP7) were identified in the affected patients. IGFBP7 gene is expressed by smooth muscles-invested vessels of the retinal vasculature; it plays important physiological functions through the modulation of IGF signaling as well as IGF-independent mechanisms.