Vitreoretinal Amyloidosis: Clinical Features, OCT/A Insights, Gene Mutations, and Outcomes of Pars Plana Vitrectomy Surgery

Abstract

Abstract Purpose: To describe the OCT/A findings, surgical findings and outcomes of vitrectomy among 8 eyes of 4 patients with vitreoretinal amyloidosis. Participants: Eight eyes of 4 Asian patients with a diagnosis of vitreoretinal amyloidosis from Jan 10, 2008, to Sep 10, 2021. Methods: Detailed history-taking, ocular and systemic examinations and genetic analysis of transthyretin mutation were performed. Vitreous biopsy, followed by 23- to 25-G pars plana vitrectomy was performed in all patients, and followed up on days 1, 7, and 30 and then, every 3 months. Results: The mean age at presentation was 45 years, with a 1:1 female-to-male distribution. The median follow-up was 85.3 (2-150) months. The OCT/A features of the vertical hyperreflective lesions appeared as punctate with moderate or high reflectivity, affecting all layers of the neuroretina in 7 eyes of 4 patients (7 of 8 eyes [87.5%]), and subtle needle-shaped patterns in 6 of 8 eyes (75%). Cotton-wool or waxy vitreous with firm vitreous adhesions beyond the major arcades and along the secondary retinal vessels was observed during vitrectomy in all eyes. The preoperative best-corrected visual acuity (BCVA) was ≤ 20/200 in 4 eyes (50%), whereas the postoperative BCVA improved to 20/100 to 20/25 in all eyes (100%). No patients subsequently were observed to develop systemic amyloidosis or dysfunction during follow-up examinations. Conclusions: The clinical clues, OCT/A features, surgical strategy, and vitrectomy outcomes in vitreoretinal amyloidosis were highlighted. We propose the term vitreoretinal amyloidosis instead of vitreous amyloidosis mainly based on the OCT/A features in this report.