Case Report
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Transplant. Aug 24, 2017; 7(4): 243-249
Published online Aug 24, 2017. doi: 10.5500/wjt.v7.i4.243
De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneuropathy
Ivo Filipe Gama, Leonor Duarte Almeida
Ivo Filipe Gama, Leonor Duarte Almeida, Ophthalmology Department, Santa Maria University Hospital (North Lisbon Hospital Center), 1649-035 Lisbon, Portugal
Author contributions: Gama IF and Almeida LD designed the report; Almeida LD evaluated and followed-up the patient; Gama IF performed the complimentary exams and collected all clinical data; Gama IF and Almeida LD wrote the paper.
Institutional review board statement: The retrospective review and publication of patient’s clinical data were approved by the Santa Maria University Hospital Ethics Committee.
Informed consent statement: The patient gave written consent for publication of his clinical data.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest to disclose and they did not receive any funding for this paper.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Ivo Filipe Gama, MD, Ophthalmology Department, Santa Maria University Hospital (North Lisbon Hospital Center), Av. Prof. Egas Moniz, 1649-035 Lisbon, Portugal.
Telephone: +351-93-9160876
Received: September 15, 2016
Peer-review started: September 17, 2016
First decision: October 21, 2016
Revised: May 29, 2017
Accepted: June 19, 2017
Article in press: June 20, 2017
Published online: August 24, 2017

The familiar amyloid polyneuropathy (FAP) is a rare autosomal-dominant systemic amyloidosis. Amyloid deposition occurs more frequently and extensively in the vitq. The increase in intraocular pressure (IOP) is a result of deposition of transthyretin (TTR) in trabecular meshwork. Rarely, the amyloid deposition in anterior segment can be more exuberant than in posterior segment. A 42 years old man, with FAP (Val30Met mutation), liver transplantation in 1997. He was asymptomatic, without any significant ocular abnormality until 2011. In 2011 he had an episode of pain in right eye (RE). Scalloped pupils, pupillary amyloid deposits and subtle vitreous opacities were detected. The IOP was 40 mmHg in RE and 28 mmHg in left eye (LE) with open angle. Optical coherence tomography detected a temporal superior retinal nerve fiber layer defect in LE and perimetry was normal. Topical timolol was initiated, and brimonidine was subsequently added to improve IOP control, which was achieved with topical medication until last evaluation. No progression occurred since 2011. Actually, with longer life expectancies, there is an increased risk of ocular involvement in FAP, even after liver transplantation. Although rare, a more exuberant amyloid deposition in anterior segment vs posterior segment can occur, and supports an important role of amyloid production in ciliary pigment epithelium in these patients. Medical control of IOP and a stable course are unusual in this secondary glaucoma. Ophthalmologists have an important task in the follow-up of patients and early diagnosis of risk factors for secondary glaucoma, such as scalloped pupils with amyloid deposits.

Keywords: Familial amyloid polyneuropathy, Glaucoma, Scalloped pupils, Pupillary amyloid deposits, Liver transplantation

Core tip: Ocular manifestations of familial amyloidotic polyneuropathy (FAP) can appear after liver transplantation due to de novo ocular production of amyloid. Rarely, amyloid deposition in vitreous is relatively less exuberant than in anterior segment. Our case illustrates this asymmetry of amyloid deposition and emphasizes the association between scalloped pupils and glaucoma, a major ocular complication of FAP. Our case had a stable course, with excellent visual function and the intraocular pressure was controlled by medical therapy, which are unusual in this type of glaucoma. This case-report also highlights the importance of the long-term ophthalmological follow-up in FAP patients.