Sub-clinical Ocular Involvement in Hereditary Transthyretin Amyloidosis: a single center clinical experience

Abstract

Purpose : To investigate sub-clinical ocular manifestations in patients with hereditary transthyretin (TTR) amyloidosis, a rare autosomal dominant disease caused by a point mutation in the transthyretin gene, by evaluating structure and function of the cornea and retina.

Methods : Eighteen eyes of nine patients affected by hereditary ATTR amyloidosis, of which eight had active disease and one was a healthy carrier, were included in the study. General ophthalmic examination, corneal confocal microscopy, multimodal imaging of the retina and rod and cone electroretinography were performed in all patients. Thirty age-matched controls provided normative data.

Results : In all studied eyes, sub-epithelial corneal nerve plexa, examined with corneal confocal microscopy, were scarce or absent. Rod and cone electroretinogram amplitudes were abnormally (outside normal lower 95% confidence limits) reduced, with or without delayed implicit times. Visual acuity was normal and retinal imaging did not show any remarkable sign of pathology.

Conclusions : The current results highlight the presence of subclinical abnormalities, detected by confocal corneal microscopy and electroretinogram, even in the absence of clinically manifest ophthalmic damage. These findings support the use of confocal corneal microscopy and electroretinogram as early biomarkers for primary autosomal dominant amyloidosis due to TTR mutations.

This is a 2020 ARVO Annual Meeting abstract.