Rare manifestation of familial vitreous amyloidosis caused by Gly103Arg transthyretin  

作　　者：Yan-Bing Feng Yan-Bo Shi Yan-Yan He Zhen-Yi Ma Yi-Xing Zhu Wen-Qing Weng 

机构地区：[1]Department of Ophthalmology,Jiaxing Traditional Chinese Medicine Hospital Affiliated to Zhejiang Chinese Medical University,Jiaxing 314001,Zhejiang Province,China [2]Jiaxing Key Laboratory of Diabetic Angiopathy,Jiaxing 314001,Zhejiang Province,China [3]Central Laboratory of Molecular Medicine Research Center,Jiaxing Traditional Chinese Medicine Hospital Affiliated to Zhejiang Chinese Medical University,Jiaxing 314001,Zhejiang Province,China [4]Department of Pathology,Jiaxing Traditional Chinese Medicine Hospital Affiliated to Zhejiang Chinese Medical University,Jiaxing 314001,Zhejiang Province,China [5]The Third Affiliated Hospital of Zhejiang Chinese Medical University,Hangzhou 310005,Zhejiang Province,China

出　　处：《International Journal of Ophthalmology(English edition)》2023年第7期1093-1099,共7页国际眼科杂志（英文版）

基　　金：Supported by Zhejiang Provincial Health Science and Technology Program of Traditional Chinese Medicine(No.2021ZB284,No.2023ZR053);Science and Technology Bureau of Jiaxing City(No.2021AY30007,No.2021AY30008);Jiaxing Key Laboratory of Diabetic Angiopathy Research(No.2019ZDSYS)。

摘　　要：AIM:To identify and analyze the genotype of the patients with special ocular manifestations of familial vitreous amyloidosis(FVA)in a Chinese Han family.METHODS:Pars plana vitrectomy(PPV)surgery was performed on a 52-year-old Chinese woman presented with vitreous amyloidosis and progressive visual impairment,without evidence of cardiac,renal,gastrointestinal,central nervous system or peripheral nervous system dysfunction.During the surgery,the patient presented with a gray-white dense and thick cotton woollike change in the vitreous body,accompanied by complete retinal detachment.Additionally,hard,free and movable yellow-white deposits were observed in the posterior pole and surrounding retina,the vitreous and subretinal deposits were examined by Congo red staining and immunohistochemical pathological examination,and whole exome sequencing was performed on blood samples from the patient and her cousin.RESULTS:During the operation,it was discovered that there was a complete detachment of the retina and a significant amount of hard,free-floating yellow-white deposits were observed beneath the posterior pole and surrounding retina.This is an exceedingly rare ocular manifestation.Pathological examination of the vitreous and subretinal deposit specimens revealed positive Congo red staining,as well as elevated vascular endothelial growth factor(VEGF)expression in vascular endothelial cells within the sediment specimens upon immunohistochemical examination.The patient and her cousin both exhibited a heterozygous mutation in Glyl03Arg within the transthyretin(TTR)gene,resulting in a substitution of glycine(Gly)at position 103 with arginine(Arg).CONCLUSION:FVA may present with various ocular manifestations,but panretinal detachment is a rare occurrence.In cases where retinal detachment persists for an extended period of time,amyloid deposits may form under the retina through retinal tears,leading to subretinal deposits that can impede retinal reattachment and negatively impact visual prognosis.Elevated levels of VEGF in t

关 键 词：familial vitreous amyloidosis transthyretin gene Gly103Arg vascular endothelial growth factor 

分 类 号：R776.4[医药卫生—眼科]