三个汉族家系玻璃体淀粉样变性患者临床特征及玻璃体切割手术后并发症观察  

Clinical characteristics and complications after vitrectomy in patients with vitreous amyloidosis from three Han nationality families

作　　者：冯燕兵 翁文庆 和艳艳 马桢一 石彦波 吴轶波 朱懿行 沈志新 Feng Yanbing;Weng Wenqing;He Yanyan;Ma Zhenyi;Shi Yanbo;Wu Yibo;Zhu Yixing;Shen Zhixin(Department of Ophthalmology,Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital,Jiaxing Eye Hospital,Jiaxing 314000,China;Department of Pathology,Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital,Jiaxing 314000,China;Department of Central laboratory,Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital,Jiaxing Key Laboratory of Diabetic Angiopathy Research,Jiaxing 314000,China;The Third Clinical Medical College of Zhejiang University of Traditional Chinese Medicine,Hangzhou 310053,China)

机构地区：[1]浙江中医药大学附属嘉兴中医院眼科嘉兴市眼科医院,314000 [2]浙江中医药大学附属嘉兴中医院病理科,314000 [3]浙江中医药大学附属嘉兴中医院中心实验室嘉兴市糖尿病血管病变研究重点实验室,314000 [4]浙江中医药大学第三临床医学院,杭州310053

出　　处：《中华眼底病杂志》2021年第11期865-871,共7页Chinese Journal of Ocular Fundus Diseases

基　　金：嘉兴市科技局项目 (2021AY30007、2021AY30008、2019AY32001)。

摘　　要：目的观察家族性玻璃体淀粉样变性(FVA)患者临床特征及玻璃体切割手术(PPV)疗效和并发症发生情况。方法回顾性临床研究。2009年6月至2020年3月于嘉兴市中医院眼科检查确诊并接受PPV治疗的3个FVA家系的18例患者32只眼纳入研究。其中,男性12例22只眼,女性6例10只眼。平均发病年龄(42.28±3.25)年;平均病程(3.75±3.93)年。患眼均行最佳矫正视力(BCVA)、B型超声检查。BCVA检查采用对数视力表进行,记录时换算为最小分辨角对数(logMAR)视力。患眼平均logMAR BCVA为1.72±0.53;眼压均<21 mm Hg(1 mm Hg=0.133 kPa)。所有患眼均行经睫状体平坦部标准三通道PPV,手术中留取玻璃体标本行病理学检查。抽取3个家系先证者外周静脉血行全外显子基因测序。手术后随访时间≥6个月。观察患者临床特征及PPV中眼底病变、手术后BCVA变化以及并发症发生情况。计量资料比较行单因素方差分析或t检验;计数资料比较行χ^(2)检验。结果患眼玻璃体均呈灰白色致密、浓稠的絮状改变,附着于晶状体后囊呈"足盘"样混浊;晶状体以后囊性混浊为主。玻璃体病理学检查,偏振光显微镜下显示苹果绿点状、片状双折光。基因检测结果显示,家系2先证者转甲状腺素蛋白基因第3号外显子存在c.307G>C(p.Gly103Arg)错义突变。PPV中发现周边视网膜出血灶4只眼(12.5%,4/32)、视网膜裂孔5只眼(15.6%,5/32)、视网膜变性灶4只眼(12.5%,4/32)、视网膜脱离3只眼(9.4%,3/32)。玻璃体填充C3F8、硅油分别为2、1只眼。手术后6个月,患眼logMAR BCVA为0.39±0.32;与手术前比较,视力明显提高,差异有统计学意义(t=15.131,P=0.000)。手术后发生高眼压2只眼(6.3%,2/32)、继发性青光眼1只眼(3.1%,1/32)、视网膜脱离2只眼(6.3%,2/32)、新生血管性青光眼(NVG)2只眼(6.3%,2/32)、白内障10只眼(31.3%,10/32)。结论FVA患眼玻璃体呈灰白色致密、浓稠絮状改变,附着于晶状体后囊呈"�Objective To observe the clinical characteristics of patients with familial vitreous amyloidosis(FVA)and the efficacy of vitrectomy(PPV)and the occurrence of complications.Methods A retrospective clinical study.From June 2009 to March 2020,32 eyes of 18 patients from 3 FVA families who were diagnosed and treated by PPV at Department of Ophthalmology of Jiaxing TCM Hospital were included in the study.Among them,there were 12 males with 22 eyes and 6 females with 10 eyes.The average age of onset was 42.28±3.25 years;the average duration of disease was 3.75±3.93 years.All the affected eyes underwent best corrected visual acuity(BCVA)and B-mode ultrasound examination.A logarithmic visual acuity chart was used in the BCVA examination,which was converted to the logarithmic minimum angle of resolution(logMAR)visual acuity when recorded.The average logMAR BCVA of the affected eye was 1.72±0.53;the intraocular pressure was less than 21 mm Hg(1 mm Hg=0.133 kPa).The vitreous body of the affected eye was obviously cloudy.All the affected eyes underwent standard three-channel PPV through the flat part of the ciliary body,and vitreous specimens were collected for pathological examination during the operation.Peripheral venous blood of probands from 3 families was collected,and the whole exome gene sequencing was performed.The follow-up time after surgery was≥6 months.The patient's clinical characteristics,fundus lesions in PPV,changes in BCVA after surgery,and complications was observed.One-way analysis of variance or t test was performed for measurement data comparison;χ2 test was performed for count data comparison.Results The vitreous body of the affected eye showed gray-white dense and thick flocculent changes,and the posterior capsule attached to the lens showed"foot disc-like"turbidity;later the lens was mainly cystic opacity.Pathological examination of the vitreous body showed positive staining of Congo red;under a polarized light microscope,it showed apple green dots and sheet-like birefringence.The genetic test

关 键 词：淀粉样变性 前白蛋白 玻璃体切除术 手术后并发症 

分 类 号：R779.6[医药卫生—眼科]