Vitreous amyloidosis caused by Lys55Asn mutation in TTR with peripheral neuropathy onset: a case report of FAP-related complications.
作者信息
Xue Yi-Wen, Xiao Yi-Qin
机构信息
Department of Ophthalmology, Huashan Hospital, Fudan University, Shanghai 200040, China.
出版信息
Int J Ophthalmol. 2025 Jan 18;18(1):184-186. doi: 10.18240/ijo.2025.01.24. eCollection 2025.
Abstract
摘要
相似文献
1
Vitreous amyloidosis caused by Lys55Asn mutation in TTR with peripheral neuropathy onset: a case report of FAP-related complications.由转甲状腺素蛋白（TTR）中Lys55Asn突变引起的玻璃体淀粉样变性伴周围神经病变起病：1例家族性淀粉样多发性神经病（FAP）相关并发症的病例报告
Int J Ophthalmol. 2025 Jan 18;18(1):184-186. doi: 10.18240/ijo.2025.01.24. eCollection 2025.
2
Case Report: Vitreous Amyloidosis Caused by a Lys55Asn Mutation With Intraoperative Suprachoroidal Hemorrhage.病例报告：由 Lys55Asn 突变引起的玻璃体淀粉样变性伴术中脉络膜上腔出血
Front Med (Lausanne). 2022 Jan 24;8:797223. doi: 10.3389/fmed.2021.797223. eCollection 2021.
3
Vitreous amyloidosis caused by a Lys55Asn variant in transthyretin: A case report.由转甲状腺素蛋白中Lys55Asn变异引起的玻璃体淀粉样变性：一例报告。
World J Clin Cases. 2022 Nov 16;10(32):12000-12006. doi: 10.12998/wjcc.v10.i32.12000.
4
Recent advances in transthyretin amyloidosis therapy.近年来转甲状腺素蛋白淀粉样变性病治疗的进展。
Transl Neurodegener. 2014 Sep 13;3:19. doi: 10.1186/2047-9158-3-19. eCollection 2014.
5
Vitreous Amyloidosis: Ocular, Systemic, and Genetic Insights.玻璃体内淀粉样变性：眼部、全身和遗传的新见解。
Ophthalmology. 2017 Jul;124(7):1014-1022. doi: 10.1016/j.ophtha.2017.03.011. Epub 2017 Apr 12.
6
Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis.家族性淀粉样多神经病：转甲状腺素蛋白介导的淀粉样变性的当前及新出现的治疗选择
Appl Clin Genet. 2012 Jun 18;5:37-41. doi: 10.2147/TACG.S19903. Print 2012.
7
[Transthyretin Arg-83 mutation in vitreous amyloidosis].玻璃体淀粉样变性中的转甲状腺素蛋白精氨酸-83突变
Yan Ke Xue Bao. 2008 Mar;24(1):65-7.
8
A new Arg54Gly transthyretin gene mutation associated with vitreous amyloidosis in Chinese.在中国发现一种与玻璃体淀粉样变性相关的新的转甲状腺素蛋白基因Arg54Gly突变。
Eye Sci. 2011 Dec;26(4):230-8. doi: 10.3969/j.issn.1000-4432.2011.04.010.
9
[Treatment of familial amyloid polyneuropathy].[家族性淀粉样多神经病的治疗]
Presse Med. 2012 Sep;41(9 Pt 1):793-806. doi: 10.1016/j.lpm.2011.11.027. Epub 2012 Feb 16.
10
Clinical and pathological findings in familial amyloid polyneuropathy caused by a transthyretin E61K mutation.转甲状腺素蛋白 E61K 突变所致家族性淀粉样多发性神经病的临床和病理发现。
J Neurol Sci. 2017 Oct 15;381:55-58. doi: 10.1016/j.jns.2017.08.017. Epub 2017 Aug 12.
本文引用的文献
1
Increased late-onset glaucoma risk following vitrectomy for macular pucker or hole.黄斑皱襞或裂孔行玻璃体切割术后晚期青光眼风险增加。
Eye (Lond). 2024 Sep;38(13):2631-2637. doi: 10.1038/s41433-024-03096-z. Epub 2024 May 6.
2
Molecular mechanisms and emerging therapies in wild-type transthyretin amyloid cardiomyopathy.野生型转甲状腺素蛋白淀粉样心肌病的分子机制和新兴疗法。
Heart Fail Rev. 2024 Mar;29(2):511-521. doi: 10.1007/s10741-023-10380-9. Epub 2024 Jan 18.
3
Gly83Arg Mutation: Beyond Familial Vitreous Amyloidosis.甘氨酸83位点精氨酸突变：超越家族性玻璃体淀粉样变性
Front Neurol. 2022 Feb 3;12:821003. doi: 10.3389/fneur.2021.821003. eCollection 2021.
4
Ocular Involvement in Hereditary Amyloidosis.遗传性淀粉样变性的眼部表现
Genes (Basel). 2021 Jun 22;12(7):955. doi: 10.3390/genes12070955.
5
Small gauge vitrectomy for vitreous amyloidosis and subsequent management of secondary glaucoma in patients with hereditary transthyretin amyloidosis.小口径玻璃体切割术治疗遗传性转甲状腺素蛋白淀粉样变性患者的玻璃体淀粉样变性和继发性青光眼及其后续管理。
Sci Rep. 2020 Mar 27;10(1):5574. doi: 10.1038/s41598-020-62559-x.
6
Amyloidosis and Ocular Involvement: an Overview.淀粉样变性和眼部受累：概述。
Semin Ophthalmol. 2020 Jan 2;35(1):7-26. doi: 10.1080/08820538.2019.1687738. Epub 2019 Dec 12.
7
Nonfamilial vitreous amyloidosis diagnosed by portable sutureless vitrectomy.通过便携式无缝合玻璃体切除术诊断的非家族性玻璃体淀粉样变性
Retin Cases Brief Rep. 2008 Fall;2(4):264-5. doi: 10.1097/ICB.0b013e318074c2e7.
8
Vitreous surgery impact in glaucoma development in liver transplanted familial amyloidosis ATTR V30M Portuguese patients.玻璃体手术对肝移植家族性淀粉样变性ATTR V30M 葡萄牙患者青光眼发展的影响。
Amyloid. 2012 Sep;19(3):146-51. doi: 10.3109/13506129.2012.710669. Epub 2012 Aug 3.
9
The immune response in glaucoma: a perspective on the roles of oxidative stress.青光眼的免疫反应：氧化应激作用的新视角。
Exp Eye Res. 2011 Aug;93(2):178-86. doi: 10.1016/j.exer.2010.07.009. Epub 2010 Aug 13.
10
Secondary glaucoma in patients with familial amyloidotic polyneuropathy.家族性淀粉样多神经病患者的继发性青光眼。
Arch Ophthalmol. 2003 Mar;121(3):351-6. doi: 10.1001/archopht.121.3.351.
Zotero 插件