伴有转甲状腺素蛋白Glu54Gly突变的家族性淀粉样多神经病中的早发性玻璃体淀粉样变性与玻璃体血管内皮生长因子升高有关。
Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF.
作者信息
O'Hearn T M, Fawzi A, He S, Rao N A, Lim J I
机构信息
Retina Service, Eye and Ear Infirmary, University of Illinois, 1855W Taylor St, Suite 2.50, Chicago, IL 60612, USA.
出版信息
Br J Ophthalmol. 2007 Dec;91(12):1607-9. doi: 10.1136/bjo.2007.119495. Epub 2007 May 23.
Abstract
AIM
To report the early vitreous involvement in a rare familial amyloidotic polyneuropathy (FAP) mutation and associated vitreous vascular endothelial growth factor (VEGF) levels.
DESIGN
Observational case series.
METHODS
Review of clinical, pathological, photographic, and angiographic records of two FAP siblings with severe vitreous involvement. Laboratory ELISA analysis of vitreous samples for VEGF, and DNA sequence analysis of peripheral blood for transthyretin (TTR) mutational analysis.
RESULTS
Two patients underwent 25-gauge vitrectomy in three eyes with marked improvement of visual acuity. Neovascularisation seen intraoperatively responded to endolaser. Analysis of vitrectomy samples for VEGF showed raised levels in all three specimens. Mutational analysis revealed an isolated Glu54Gly mutation in the transthyretin gene.
CONCLUSIONS
Early involvement of the vitreous occurs in a rare transthyretin mutation of FAP, with increased vitreous levels of VEGF.
摘要
目的
报告一种罕见的家族性淀粉样多神经病（FAP）突变早期玻璃体受累情况及相关的玻璃体血管内皮生长因子（VEGF）水平。
设计
观察性病例系列。
方法
回顾两名严重玻璃体受累的FAP同胞的临床、病理、摄影及血管造影记录。采用实验室酶联免疫吸附测定（ELISA）法分析玻璃体样本中的VEGF，并对外周血进行DNA序列分析以检测转甲状腺素蛋白（TTR）突变。
结果
两名患者三只眼接受了25G玻璃体切除术，视力显著改善。术中所见新生血管对眼内激光治疗有反应。对玻璃体切除样本进行VEGF分析显示，所有三个样本中的VEGF水平均升高。突变分析显示转甲状腺素蛋白基因存在孤立的Glu54Gly突变。
结论
FAP的一种罕见转甲状腺素蛋白突变会早期累及玻璃体，且玻璃体VEGF水平升高。
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Ophthalmology. 2005 Dec;112(12):2212. doi: 10.1016/j.ophtha.2005.05.028. Epub 2005 Oct 12.
2
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Graefes Arch Clin Exp Ophthalmol. 2006 Mar;244(3):309-15. doi: 10.1007/s00417-004-1087-4. Epub 2005 Aug 13.
3
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4
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Am J Ophthalmol. 2004 Apr;137(4):668-74. doi: 10.1016/j.ajo.2003.11.015.
5
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Transplantation. 2004 Feb 15;77(3):345-9. doi: 10.1097/01.TP.0000111516.60013.E6.
6
Ocular amyloid involvement after liver transplantation for polyneuropathy.
Ann Intern Med. 2001 Nov 20;135(10):931-2. doi: 10.7326/0003-4819-135-10-200111200-00026.
7
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8
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Brain. 1999 Feb;122 ( Pt 2):183-90. doi: 10.1093/brain/122.2.183.
9
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10
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