Hereditary transthyretin amyloidosis : a literature review of ATTRG83R

Abstract

Hereditary transthyretin amyloidosis (ATTRv) with Gly83Arg (G83R) variant is predominantly found in China and is characterized by prominent ocular involvement. This literature review, encompassing 80 reported cases, demonstrates that vitreous opacity (VO) is the most common initial manifestation (79/80, 98.8%), typically presenting in the 30–40 s range. Ocular involvement often extends beyond VO to include retinal amyloid angiopathy (RAA), secondary glaucoma (GLC), and tractional retinal detachment (RD). Systemic manifestations are not uncommon, with peripheral neuropathy (PN) being the most frequent extraocular feature, often developing years after the onset of ocular symptoms. In contrast, cardiac involvement is rare. Although pars plana vitrectomy improves vision, VO's recurrence is high. These findings establish ATTRG83R as an ocular-predominant ATTRv subtype, for which timely diagnosis and awareness of the potential for both progressive ocular complications and systemic neuropathy are crucial for management.