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

<b>Background: </b>Hereditary ATTRG83R (<i>p.TTRG103R</i>) 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.<b>Methods:</b> The clinical data of patients with hereditary ATTRG83R amyloidosis from 2006 to 2021 were analyzed retrospectively.<b> </b>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.<b>Results:</b> 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 (<i>P</i>&lt;0.05). The recurrence time was 58.83±20.85 months after vitrectomy. At 90 months after vitrectomy, the cumulative recurrence rate was 94.7%. Eight eyes developed glaucoma after vitrectomy. None of the 5 eyes without vitrectomy developed glaucoma. Paired chi-square test showed a significant difference in the incidence rate of glaucoma between eyes with or without vitrectomy (<i>P</i>&lt;0.05). However, retinal amyloid angiopathy and cataract surgery were not associated with glaucoma (<i>P</i>&gt;0.05). Poor intraocular pressure control in 7 eyes caused severe visual impairment.<b>Conclusions: </b>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.