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Sawsan R Nowilaty, Amani S Albakri, Leen Abu Safieh, Fowzan S Alkuraya; Familial Retinal Arterial Macroaneurysms Can be Associated with Major Systemic and Coronary Arterial Disease. Invest. Ophthalmol. Vis. Sci. 2014;55(13):246.
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Familial retinal arterial macroaneurysms (FRAM) is an autosomal recessive condition caused by a mutation in the insulin-like growth factor binding protein 7 (IGFBP7) with upregulation of BRAF/MEK/ERK pathway. Its funduscopic hallmarks are bilateral or unilateral retinal arterial beading and macroaneurysms along major retinal arterial trunks, vascular sheathing, Coats-like features, and recurrent retinal exudations and hemorrhages often leading to subretinal gliosis. The only systemic association reported thus far with FRAM is supravalvular pulmonic stenosis. This report expands the clinical spectrum of FRAM by describing another major potentially life-threatening systemic vascular involvement which must be recognized.
At the age of 29 years, a Saudi woman with longstanding poor vision in her right eye underwent a coronary artery bypass following acute myocardial infarction. Submacular gliosis in the right eye and retinal hemorrhages in the left eye were documented. Her polyangiogram showed stenosis of the left anterior descending coronary artery with unusual ostial coronary aneurysms, occlusion of the left subclavian artery, stenosis of both renal arteries, irregularities in the mesenteric artery and tapering of the aorta, features for which a presumed diagnosis of Takayasu disease was given. Eleven years later, a fundus examination showed, in both eyes, multiple macroaneurysms and beading along the major retinal arteries surrounded by intraretinal lipid exudation and hemorrhages, retinal arterial sheathing and sclerosis, Coats-like features, peripheral retinal non-perfusion, with in the right eye, significant macular retinal pigment epithelial disturbances and subretinal gliosis, and in the left eye, vitreous hemorrhage and a persistent Cloquet canal. The combination of these features evoked FRAM. Genetic testing confirmed the presence of the same IGFBP7 c.830-1G>A mutation reported with FRAM, thus rectifying the diagnosis.
Familial Retinal Arterial Macroaneurysms can be associated with major potentially life-threatening systemic vascular disease which must be recognized. A thorough cardiovascular evaluation is crucial in patients with FRAM. Likewise, a careful retinal examination and the possibility of an IGFBP7 mutation should be considered in the setting of cardiologic or systemic arterial disease.
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