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Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a transthyretin Val30Met mutation- a case report

Poster Details

First Author: A.Dias-Santos PORTUGAL

Co Author(s):    R. Rosa   M. Cardoso   B. Borges   B. Carvalho   J. Ferreira   J.P. Cunha   0   0 0   0 0   0 0   0 0

Abstract Details


Familial amyloid polyneuropathy (FAP) is a group of autosomal dominant disorders characterized by extracellular amyloid deposition in several target organs. This paper aims to report a unique manifestation of retinal vascular leakage including optic disc and macular edema in a patient with FAP.


Medical Retina Department of Central Lisbon Hospital Center


Case report and literature review.


A 37 year-old Portuguese man with Val30Met transthyretin-related FAP presented with rapidly progressing visual loss in his left eye (LE). He had undergone liver transplantation at the age of thirty with neurologic stabilization. Fundoscopy and fluorescein angiogram revealed optic disc and macular edema as well as vessel wall staining with leakage in the posterior pole and mid-periphery, without vitreous opacities. Diagnostic work-up for infectious, autoimmune and neoplasic conditions was negative. Systemic immunosuppression was increased but without improvement. After three intravitreal injections of bevacizumab and one intravitreal injection of triamcinolone in the LE, a slight but fugacious anatomic and functional improvement was obtained.


To our knowledge, this is the first report of a rare ocular manifestation of FAP which represents a new therapeutic challenge. Intravitreal injections of an antagonist of the vascular endothelial growth factor in isolation or combined with triamcinolone or panretinal photocoagulation may be an effective eye-saving therapeutic approach.

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