Multimodal retinal imaging of familial amyloid polyneuropathy

Abstract

Background: Retinal amyloid angiopathy is a sight-threatening complication of familial amyloid polyneuropathy (FAP) caused by pathological deposition of transthyretin. The purpose of this report is to present ocular findings in patients with FAP using a combination of novel non-invasive retinal imaging techniques, including first time published images of optical coherence tomography angiography (OCT-A) in FAP.Materials and methods: Observational cross-sectional study of retinal images in patients with FAP using: fundus ultra wide-field photography (UWF); autofluorescence (AF); optical coherence tomography (OCT); and, OCT-A. Fifteen eyes of eight patients with FAP from a tertiary center were included. A descriptive analysis of obtained images and clinical data was performed.Results: Amyloid vitreous and retinal deposits were easily identified using OCT scans, AF, and UWF images, especially in the red-free modality. OCT-A allowed quality reconstruction of posterior pole vasculature, foveal avascular zone, and areas of ischemia.Conclusions: Different modalities of currently available non-invasive retinal imaging techniques, including OCT-A scans described for the first time in FAP, are safe and useful in detecting and analyzing retinal amyloidosis. Retinopathy in FAP in the studied group was more frequent than previously reported.

Keywords: Amyloidosis; amyloid retinopathy; familial amyloid polyneuropathy; multimodal imaging; optic coherence tomography angiography.