ArticleEye (London, England)2025
Hereditary vitreoretinal amyloidosis with transthyretin Gly83Arg variant, a long-term study.
Article in Eye (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Article
- Secretion of transthyretin: molecular mechanisms dependent on the endoplasmic reticulum.Frontiers in physiology · 2025Review
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9 authors.
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Abstract
backgroundThis study evaluated the clinical data on ophthalmic follow-up and treatment efficacy of hereditary vitreoretinal amyloidosis kindred due to transthyretin Gly83Arg variant over a 15-year follow-up period.
methodsThe clinical data of patients with hereditary ATTRG83R amyloidosis from 2006 to 2021 were analysed retrospectively. Sanger sequencing of the transthyretin gene, detailed medical history, pedigree charting, and systemic and ophthalmic examinations were carried out in all patients. The changes of best-corrected visual acuity (BCVA) after vitrectomy and the associations of amyloidosis recurrence and post-vitrectomy glaucoma were analysed.
resultsFourteen patients with ATTRG83R were included, all experiencing vision loss due to vitreous opacities. The average age of onset was 40.93 ± 6.96 (29 to 52) years. The preoperative BCVA was 2.20 ± 0.69 logMAR, whereas the postoperative BCVA improved to 0.13 ± 0.35 logMAR (P < 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 (P < 0.05). However, retinal amyloid angiopathy and cataract surgery were not associated with glaucoma (P > 0.05). Poor intraocular pressure control in 7 eyes resulted in severe visual impairment.
conclusionsHereditary ATTRG83R amyloidosis predominantly manifests as vitreous opacity, and vitrectomy can improve the visual acuity in affected patients. However, the recurrence of amyloidosis and related complications significantly impact long-term visual outcomes. Thus, delaying vitrectomy appropriately and maintaining regular follow-up visits is advisable.
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