26例中国先天性晶状体异位患者的基因诊断及手术初步效果观察

摘要 目的：总结26例中国先天性晶状体异位患者的基因诊断及晶状体异位的手术疗效。方法：回顾性收集2019年3月-2020年3月就诊于北京同仁医院眼科来自不同家系的双眼先天性晶状体异位患者26例共52眼。收集详细临床资料,提取外周静脉血全基因组DNA,应用靶向基因捕获技术筛查晶状体异常相关基因突变对所有患者进行基因诊断,采取微创晶状体-玻璃体切除或白内障超声乳化手术,记录视力、人工晶状体位置及主要并发症,采用配对t检验对术前术后最佳矫正视力进行比较。结果：患者均为汉族,男性14例,女性12例,年龄（21.2±15.2）岁。25例患者存在FBN1突变,1例为GJA8突变。22例（84.6%）可确诊为马凡综合征,3例诊为"潜在马凡综合征"。42眼采取微创晶状体-玻璃体切除类手术,7眼采取白内障超声乳化类手术。有31眼（59.6%）存在视网膜变性行网膜激光光凝。平均随诊时间（15.7±3.7）月,术后6个月及末次随访的最佳矫正视力（最小分辨角对数视力,0.30±0.16及0.21±0.11）均高于术前（0.76±0.31）,差异有统计学意义（t=12.492,P＜0.001;t=13.171,P＜0.001）。术后所有眼的人工晶状体位置及稳定性良好,未发生视网膜脱离、黄斑水肿、人工晶状体脱位、人工晶状体偏位、继发性青光眼、眼内炎等并发症。结论：马凡综合征是此26例中国人先天性晶状体异位的主要病因,FBN1基因突变检测可为确诊提供有力证据,微创晶状体-玻璃体切除联合人工晶状体悬吊术效果好。

Genetic Diagnosis and Preliminary Surgical Outcomes for Congenital Ectopia Lentis in 26 Chinese Patients

ABSTRACT Objective: To investigate the genetic diagnosis and the preliminary surgical outcomes for congenital ectopia lentis in 26 Chinese Patients. Methods: Retrospective case series. A total of 52 eyes of 26 binocular congenital ectopia lentis patients from different families were enrolled in the Department of Ophthalmology, Beijing Tongren Hospital from March 2019 to March 2020. Detailed clinical data were collected. Genome-wide DNA was extracted from peripheral blood. Targeted gene capture technology was used to screen gene mutations related to lens abnormalities and genetic diagnosis was given for all patients. Minimally invasive lensectomy-vitrectomy or cataract phacoemulsification was performed. Visual acuity, intraocular lens position and major complications were recorded, and the preoperative and postoperative best corrected visual acuity were analyzed using paired t-tests. Results: The patients were all Han Chinese, 14 males and 12 females, aged (21.2±15.2) years. Twenty-five patients had FBN1 mutations and 1 had GJA8 mutations. Twenty-two cases (84.6%) were diagnosed as Marfan syndrome, and 3 cases were diagnosed as "potential Marfan syndrome". 42 eyes underwent minimally invasive lensectomy-vitrectomy, and 7 eyes underwent cataract phacoemulsification surgery. Retinal degeneration was detected in 31 eyes(59.6%) and retinal laser photocoagulation was performed. The mean follow-up time was(15.7±3.7) months. The best corrected visual acuity (logarithm of the minimal angle of resolution) improved significantly from 0.76±0.31 at baseline to 0.30±0.16 at 6th month follow-up (t=12.492, P<0.001) and to 0.21±0.11 at the last follow-up (t=13.171, P<0.001). The position and stability of intraocular lens was proper without obvious tilt or displacement, and no retinal detachment, cystoid macular edema, intraocular lens dislocation, intraocular lens decentration, secondary glaucoma or endophthalmitis was observed. Conclusion: Most congenital ectopia lentis cases in this study were diagnosed as Marfan syndrome and the detection of FBN1 gene mutation could provide strong evidence for the diagnosis. Minimally invasive lensectomy-vitrectomy combined with intraocular lens suspension led to good visual acuity outcomes.