| 先天性晶状体半脱位一家系FBN1基因突变研究及手术治疗 |
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| 引用本文： | 李北晗,宋旭东. 先天性晶状体半脱位一家系FBN1基因突变研究及手术治疗[J]. 眼科, 2018, 27(2): 85. DOI: 10.13281/j.cnki.issn.1004-4469.2018.02.002 |
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| 作者姓名： | 李北晗 宋旭东 |
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| 作者单位： | 100071.北京丰台医院眼科（李北晗）；100730 首都医科大学附属北京同仁医院 北京同仁眼科中心 眼科学与视觉科学北京市重点实验室（宋旭东） |
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| 摘 要： | 目的 对一个先天性晶状体半脱位家系进行FBN1基因突变筛查，总结该家系晶状体半脱位的治疗方法。设计 回顾性病例系列。研究对象 2014年5月就诊于北京同仁医院白内障中心一个先天性晶状体半脱位家系人员25例。方法 提取该家系成员外周血全基因组DNA，利用目标基因捕获技术，收集目标基因组DNA，再利用HiSeq2000进行高通量测序，确定突变位点，用Sanger法验证测序结果。晶状体半脱位90°~180°者4例（8眼）行一期囊袋张力环IOL植入术（Phaco+CTR+IOL），二期晶状体囊袋复合体（IOL-CTR)单点巩膜缝合固定术。晶状体半脱位大于180°者1例（2眼）行晶状体玻璃体切除IOL植入，巩膜缝合固定术（PPL+PPV+IOL）。2例（4眼）行晶状体囊内摘除术（ICCE），1例（1眼）行玻璃体切除术（PPV）。主要指标 FBN1基因测序结果、术式、最佳矫正视力（BCVA）。结果 该家系所有患者FBN1基因38号外显子mRNA第4588位碱基均出现C→T杂合性错义改变，导致患者均携带c.4588C>T（p.R1530C）突变体，而家系正常个体15人无此突变。行Phaco+CTR+IOL联合二期IOL-CTR术后BCVA 0.5~0.8。行PPL+PPV+IOL术后BCVA 0.3~0.5。结论 FBN1基因c.4588C>T（p.R1530C）突变体是导致该家系的致病原因。采用一期囊袋内张力环IOL植入及二期IOL-CTR单点巩膜缝合固定术矫正IOL偏位效果较好。（眼科， 2018, 27： 85-90）
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| 关 键 词： | 晶状体半脱位 FBN1基因 目标基因捕获 高通量测序 基因突变 |
| 收稿时间： | 2017-08-14 |
Surgical treatment and pedigree analysis of FBN1 mutation for a Chinese family with isolated ectopia lentis |
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| LI Bei-han,SONG Xu-dong. Surgical treatment and pedigree analysis of FBN1 mutation for a Chinese family with isolated ectopia lentis[J]. Ophthalmology in China, 2018, 27(2): 85. DOI: 10.13281/j.cnki.issn.1004-4469.2018.02.002 |
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| Authors: | LI Bei-han SONG Xu-dong |
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| Affiliation: | 1. Department of Ophthalmology, Beijing Fengtai Hospital, Beijing 100071, China; 2. Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing 100730, China |
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| Abstract: | Objective To reveal mutations of the gene FBN1 of an isolated ectopia lentis family(EL), and to sum up the surgical procedures of lens subluxation. Design Retrospective case series. Participants An isolated ectopia lentis family in Beijing Tongren Hospital was recruited in 2014. Methods We analyzed all members. Periperal blood was collected and genomic DNA was isolated. FBN1 were selected by a gene capture strategy, using custom enrichment kit. The enrichment libraries were sequenced on HiSeq2000 sequencer to determine the mutation frequency in FBN1. The probable mutation was determined with the method of the first-generation sequencing. Four cases (8 eyes) with the range of lens dislocation 90~180 degree were performed phacoemulsification combined with capsular tension ring (CTR) and intraocular lens (IOL) implantation, then after 2~3 months repositioning of CTR-IOL complex. One case (2 eyes) with the range of lens dislocation more than 180 degree were performed pars plana lensectomy combined with sclera-sutured IOL implantation (PPL+PPV+IOL). Two cases (4 eyes) were performed ICCE. One case (1 eye) was performed PPV. Main Outcome Measures Mutations of FBN1 gene, surgical procedures, best corrected visual acuity (BCVA). Results We found all the affected individuals carried FBN1 gene mutations, c.4588C>T（p.R1530C）, in exon38 by sequence analysis, while the unaffected family members did not have this mutation. The BCVA in cases underwent Phaco+CTR+IOL was 0.5~0.8. BCVA in cases underwent PPL+PPV+IOL was 0.3~0.5. Conclusion Our study showed that FBN1 gene mutation, c.4588C>T(p.R1530C), was the underlying molecular pathogenesis of this family. The treatment with Phaco+CTR+IOL and adjusting the IOL 2-3 months after the surgery led to good BCVA results.（Ophthalmol CHN, 2018, 27： 85-90） |
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| Keywords: | isolated ectopia lentis FBN1 gene targeted gene capture next-generation sequencing mutation |
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