Familial amyloid polyneuropathy (FAP) or paramyloidosis is a heterogenous group of autosomal dominant disorders characterized by extracellular amyloid deposition in peripheral nerves, cardiac muscle, kidneys and eyes[
1]. There are three precursor proteins that can give rise to amyloid production: transthyretin (TTR), apolipoprotein A-1 and gelsolin, each resulting in a distinct type of FAP[
2]. TTR-related FAP is the most frequent type and more than 80 mutations involving this protein have been described[
3,
4]. A single amino acid substitution of valine for methionine at position 30 of TTR (Val30Met) is the most frequent TTR-related FAP causing mutation[
5]. The liver is the major site of synthesis of circulating TTR[
6], but there is also evidence of TTR production in other tissues like the retinal pigment epithelium, the choroid plexus of the brain and the visceral yolk sac endoderm[
7]. Since 1990, liver transplantation has been considered the main therapeutic approach, halting the progression of neurologic complications[
8]. However, ocular complications have been reported to continue or even increase after liver transplantation[
9,
10]. The most frequently reported ocular manifestations of FAP are keratoconjunctivitis sicca, abnormal conjunctival vessels, pupillary abnormalities, glaucoma and vitreous opacities[
11].
The purpose of this paper is to report a case of retinal vascular leakage including optic disc and cystoid macular edema in a patient with Val30Met TTR-related FAP.