A long-term follow-up study in hereditary ATTRG83R amyloidosis

Background: Hereditary ATTRG83R (p.TTRG103R) amyloidosis is an autosomal dominant disease with limited diagnosis. Long-term data on clinical follow-up and treatment efficacy are limited due to the low frequency of the disease. We evaluated a hereditary ATTRG83R amyloidosis kindred during a 15-year follow-up period.Methods: The clinical data of patients with hereditary ATTRG83R amyloidosis from 2006 to 2021 were analyzed retrospectively. Sanger sequencing of the transthyretin gene, detailed history, pedigree charting, and systemic and ophthalmic examinations was carried out in all patients. Analyze the changes of best-corrected visual acuity (BCVA) after vitrectomy and the associations of amyloidosis recurrence and post-vitrectomy glaucoma.Results: Fourteen patients with ATTRG83R were included, all of whom presented with vision loss following vitreous opacities. The mean age of onset was 40.93±6.96 (29 to 52) years. The mean preoperative BCVA was 2.20±0.69 logarithm of the minimum angle of resolution (logMAR), whereas the postoperative BCVA improved to 0.13±0.35 logMAR (PPP>0.05). Poor intraocular pressure control in 7 eyes caused severe visual impairment.Conclusions: Hereditary ATTRG83R amyloidosis is mainly manifested by vitreous opacity, and vitrectomy can improve the vision of patients with this disease. However, the amyloidosis recurrence and complications seriously affect the long-term visual prognosis. Therefore, it is recommended to appropriately delay the time of vitrectomy and adhere to regular follow-up.