背景:先天性外翻的特征是由小带纤维的部分或完全异常引起的晶状体脱位。它可以由全身性疾病或孤立的眼部疾病引起。当病因诊断具有挑战性时,基因检测技术可以提供有价值的信息。在这里,我们报道一例6岁女孩,确诊为由复合杂合子ADAMTSL4基因突变引起的孤立性扁桃体异位.
方法:患者是一名6岁的中国汉族女孩,右眼斜视。裂隙灯检查显示右眼晶状体混浊脱位,没有一个异位的学生。基因检测证明ADAMTSL4基因中存在复合杂合突变[c.2270dupG(p。Gly758Trpfs*59)和c。2110A>G(p。Ser704Gly)],并证实了孤立性扁桃体异位的诊断。她接受了晶状体摘除,并将缝合的巩膜固定后房型人工晶状体(IOL)放置在右眼中。最佳矫正视力为术后1个月0.1。
结论:基因检测在诊断具有相似症状的疾病中起着至关重要的作用。如孤立性扁桃体异位和马凡氏综合征。在这项研究中,我们使用全外显子测序来诊断孤立的lentis异形,并鉴定出变异c.211A>G(p。Ser704Gly),这可能与患者的外翻和早发性白内障的发展有关。这些致病基因突变对先天性扁桃体异位的基因诊断具有重要意义。治疗,监视,以及为患者及其家人提供遗传和产前咨询。
BACKGROUND: Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either systemic diseases or isolated ocular diseases. Gene detection techniques can provide valuable information when an etiological diagnosis is challenging. Herein, we report the
case of a six-year-old girl with a confirmed diagnosis of isolated ectopia lentis caused by a compound heterozygous ADAMTSL4 gene mutation.
METHODS: The patient was a 6-year-old Chinese Han girl with strabismus in the right eye. Slit lamp examination revealed that the lens in the right eye was opacified and dislocated, without an ectopic pupil. Gene detection demonstrated the presence of a compound heterozygous mutation in the ADAMTSL4 gene [c. 2270dupG (p.Gly758Trpfs *59) and c. 2110A > G (p.Ser704Gly)], and the diagnosis of isolated ectopia lentis was confirmed. She underwent lens extraction, and a sutured scleral-fixated posterior chamber intraocular lens (IOL) was placed in the right eye. The best-corrected visual acuity was 0.1 one month postoperatively.
CONCLUSIONS: Gene detection plays a crucial role in diagnosing disorders with similar symptoms, such as isolated ectopia lentis and Marfan syndrome. In this study, we used whole exons sequencing to diagnose isolated ectopia lentis and identified the variant c.2110A > G (p.Ser704Gly), which may be associated with the development of ectopia lentis and early-onset cataract in the patient. These pathogenic gene mutations have significant implications for the genetic diagnosis of congenital ectopia lentis, treatment, surveillance, and hereditary and prenatal counseling for the patient and their family members.