Abstract
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS), also known as familial retinal arterial macroaneurysm syndrome, is an autosomal recessive disorder associated with many life-threatening complications. The disease is characterized by progressive multiple retinal arterial macroaneurysms, retinal arterial beading, and recurrent vitreous hemorrhage. Here, we describe the first case of RAMSVPS associated with peripheral ischemia evident on ultra-widefield fluorescein angiography. A 23-year-old otherwise healthy woman presented to our ophthalmology emergency room with a 1-week history of right eye floaters and decreased vision. Dilated fundoscopic examination showed right eye vitreous and preretinal hemorrhage with bilateral active and involuted retinal arterial macroaneurysms, arterial beading, and sclerosed vessels. Ultra-widefield fluorescein angiography demonstrated multiple macroaneurysms on the optic discs and along the major retinal arteries in addition to significant peripheral retinal ischemia in both eyes. Echocardiography showed severe supravalvular pulmonic stenosis that required urgent pulmonary valvuloplasty. Indeed, peripheral retinal ischemia is an additional finding in RAMSVPS.