Retinal arterial macroaneurysm associated with supravalvular pulmonic stenosis (RAMSVPS) is a rare autosomal recessive condition caused by a splicing mutation in IGFBP7. Recently, two major biological functions have emerged for IGFBP7. The first is related to its tumor suppressor action by blocking the BRAF-MEK-ERK signaling. The second is related to its ability to block VEGF-induced angiogenesis.
