甲状腺素转运蛋白相关玻璃体淀粉样变性的基因检测及临床特征

Ocular manifestations and gene detection of transthyretin-related vitreous amyloidosis

目的分析甲状腺素转运蛋白(TTR)相关玻璃体淀粉样变性患者的TTR基因检测结果以及临床特征。设计回顾性病例系列。研究对象4例TTR相关玻璃体淀粉样变性并进行玻璃体手术的患者。方法回顾患者的裂隙灯、眼底镜、眼压、眼部超声检查等表现;通过全血采集提取DNA,利用聚合酶链反应(PCR)扩增TTR基因全外显子,进行测序。采用25G微创玻璃体切除术治疗玻璃体混浊;采用玻璃体液涂片及HE染色进行病理学检查。主要指标TTR测序结果,临床表现。结果4例患者中男性2例,平均年龄(50.5±8.4)岁,患眼均以玻璃体混浊为主要表现。TTR突变位点分别为Tyr134Cys、Lys55Asn、Tyr89His、Gly103Arg。病理学检查显示玻璃体液呈无定形淀粉样物质改变。5只术眼术前最佳矫正视力指数~0.1,术后为0.1~0.7。术前、术后眼压均正常。结论TTR基因突变可致玻璃体淀粉样变性,基因检测和病理诊断是确诊依据,玻璃体手术有助于患眼视力改善。

Objective To describe ocular manifestations and gene detection results in transthyretin(TTR)-related vitreous amyloidosis.Design Retrospective case series.Participants Four cases with TTR-related vitreous amyloidosis performed vitrectomy.Methods The clinical features with slit lamp,ophthalmoscope,intraocular pressure(IOP),best corrected visual acuity(BCVA)and ultrasound were reviewed.Subjects’venous blood was collected and DNA was extracted,whole exons of TTR gene were amplified with polymerase chain reaction(PCR).25G vitrectomy was performed.The vitreous humor was examined for HE staining and pathological diagnosis.Main Outcome Measures TTR sequencing results,and clinical manifestation.Results 2 male cases with average age of(50.5±8.4)years old in all 4 cases.The vitreous opacity was the main manifestation in all cases.Direct sequencing revealed the heterozygous mutation in TTR Tyr134Cys,Lys55Asn,Tyr89His,Gly103Arg in 4 patients.Vitreous pathology revealed that the vitreous humor was stained with amorphous amyloid.The BCVA of the 5 eyes before surgery were from HM to 0.1 and after surgery were from 0.1 to 0.7.IOP was normal before and after vitrectomy.Conclusion TTR gene mutation may cause vitreous amyloidosis.Genetic and pathological testing are key diagnostic evidence for TTR-related vitreous amyloidosis.Vitrectomy can improve vision of TTR-related vitreous amyloidosis.