De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneuropathy

Abstract

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.