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

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"足盘"样混浊;PPV治疗可有效提高患眼BCVA;手术后可发生继发性青光眼、继发性视网膜脱离、NVG等。

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 results showed that there was a c.307G>C(p.Gly103Arg)missense mutation in the TTR gene of the proband in Family 2.Peripheral retinal hemorrhages in 4 eyes(12.5%,4/32),retinal tears in 5 eyes(15.6%,5/32),retinal degeneration in 4 eyes(12.5%,4/32),retinal detachment were found in PPV 3 eyes(9.4%,3/32).The vitreous body was filled with C3F8 and silicone oil respectively for 2,1 eye.Six months after the operation,the logMAR BCVA of the affected eye was 0.39±0.32,which was significantly higher than that before the operation,and the difference was statistically significant(t=15.131,P=0.000).After the operation,high intraocular pressure occurred in 2 eyes(6.3%,2/32),secondary glaucoma in 1 eye(3.1%,1/32),retinal detachment in 2 eyes(6.3%,2/32),neovascular glaucoma(NVG)in 2 eyes(6.3%,2/32),cataract in 10 eyes(31.3%,10/32).Conclusion The vitreous body of FVA eyes are gray-white dense,thick and flocculent,attached to the posterior lens capsule,showing"foot disc-like"turbidity;PPV treatment can effectively improve the BCVA of the FVA eyes;secondary glaucoma,secondary retinal detachment,NVG can occur after surgery.