Objective: To summarize the genetic variations and clinical features of the MAB21L2 and compare them with the highly homologous MAB21L1 gene. Methods: A genotype -genotype analysis was performed on the patients with MAB21L2 gene variants in the clinical genetic database of Zhongshan Ophthalmic Center, Sun Yat-sen University. A retrospective review was undertaken to analyze the phenotype-genotype correlations of MAB21L2 gene variants and the highly homologous MAB21L1 gene variants reported in the previous literature. Results: Two heterozygous MAB21L2 gene variants were identified in two families with microphthalmia: Proband 1 carried the known variant c.151C>G/p.(Arg51Gly), presenting with bilateral microphthalmia with iris-choroidal coloboma and flexion of joints. The mother carried the same heterozygous variant but had a normal phenotype. Proband 2 carried the unreported variant c.1042G>T/p.(Glu348*), manifesting as left-sided microphthalmia with a normal right eye and no other systemic abnormalities. Through literature review, we found that under a dominant inheritance pattern, 80% of heterozygous pathogenic MAB21L2 variants (20/25) and 100% of heterozygous pathogenic MAB21L1 variants (25/25) occurred in the amino acid region 49-52, resulting in microphthalmia, anophthalmia, and coloboma (MAC). Some patients with heterozygous MAB21L2 variants in this region exhibited additional skeletal and joint dysplasia (12/24, 50%). Heterozygous truncating variants in MAB21L2 led to MAC (5/5, 100%), while those in MAB21L1 were non-pathogenic. Conclusions: This study identified a novel pathogenic variant and a known hotspot pathogenic variant of MAB21L2 in two families with microphthalmia. Through a comprehensive literature review, we compared and summarized the mutation spectrums and genotype-phenotype correlations of MAB21L1 and MAB21L2 genes, providing valuable insights for the diagnosis and differential diagnosis of genetic diseases caused by these gene defects.
先天性小眼畸形是一种罕见的先天性眼球发育异常，表现为眼球体积缩小和结构紊乱，常伴有眼组织缺损，严重影响患者的视觉功能。该病可单独发生，仅影响眼部，也可作为全身综合征的表现之一，同时伴有全身多器官或系统的异常。目前已发现82个先天性小眼畸形致病基因，能解释近2/3患者的发病原因。MAB21L1和MAB21L2是高度同源的两个基因，两者的致病变异均可导致小眼畸形，但又各自存在独特的表型特征。本期封面文章报道了MAB21L2基因变异导致小眼畸形2例，并通过回顾文献绘制变异频谱，从变异热点、变异类型、表型特征和基因型-表型相互关系等方面，对MAB21L1和MAB21L2进行比较，为两者缺陷所致眼遗传病的鉴别和诊断提供依据。
Objective: To optimize the follow-up approach for patients with ophthalmic genetic diseases through informational technology, reduce the loss rate of cases, and facilitate the efficient operation of the clinical laboratory. Methods: Using the SWOT analysis method to collect requirements, ‘Pediatric Genetics of Zhongshan Ophthalmic Center’, an ophthalmic genetics information management system for ophthalmic genetic diseases was established on the Wechat public platform. Based on whether the ophthalmic genetic disease information management system was used and there were personnel mobility restrictions, patients who underwent genetic testing in the hospital for genetic testing from July 1, 2017, to November 30, 2023, were divided into four groups: traditional group, traditional+ lockdown group, Wechat+ lockdown group, and Wechat group. Te chi-square test was used to evaluate the performance of the ophthalmic genetic information management system. Results:The ophthalmic genetic disease information management system, which is based on open-source sofware and hosted on the Alibaba Cloud e-government platform, interacts with the hospital network through encrypted communication. Te system was divided into three modules: gene detection business, data management, and system management. By the system, patients or relatives can upload medical records, sign informed consent, inquire about genetic test reports at any time and anywhere, and conduct one-on-one communication to achieve long-term follow-up if necessary. In this process, the patient's clinical information was digitized. A total of 10,662 patients were included in the study to evaluate the performance of the system. The loss rate of cases was decreased from 12.2%to 2.7%, and the rate of second visits was reduced from 70% to 11.7%, which were statistically different, respectively (P< 0.001). Conclusion: Te application of the ophthalmic genetic information management system has signifcantly reduced the loss rate of cases and the rate of second visits in patients with ophthalmic genetic diseases.
Objective: To optimize the follow-up approach of patients with ophthalmic genetic diseases through informational technology, reduce the loss rate of cases, and help the efficient operation of the clinical laboratory. Methods: Based on the official account of Wechat, “Pediatric Genetics of Zhongshan Ophthalmic Center ", an ophthalmic genetics case management system was established, which had the functions of collecting cases, signing informed consent online, and reporting queries. According to whether the case management system was used or whether the personnel movement was restricted, patients who came to the hospital for gene testing from July 1, 2017, to November 30, 2023, were divided into four groups: traditional group, traditional+ movement restricted group, WeChat+ movement restricted group, and WeChat group. A chi-square test evaluated the performance of the case management system. Results: A total of 10662 patients were included. After using the genetics case management system, the loss rate of cases decreased from the highest 12.2% (traditional+ movement restricted group) to the lowest 1.8% (WeChat group), and the difference was statistically significant (P<0.001). The second visit rate of patients decreased from the highest, 70% (traditional group) to the lowest, 11.7% (WeChat group), and the difference was statistically significant (P<0.001). Conclusion: The use of the genetic case management system significantly reduces the loss rate of cases and the rate of second visits in patients with ocular genetic diseases.
Abstract: Glaucoma is a group of eye diseases that seriously threaten human visual health. Increased intraocular pressure is the main clinical manifestation and diagnostic basis of glaucoma and is directly related to increased resistance to aqueous circulation channels. The trabecular meshwork (TM) is a multi-layer spongy tissue that filters aqueous humor. Its structure changes and the filtering capacity decreases, leading to an increase in intraocular pressure. Surgical methods for TM are constantly updated. Compared with traditional glaucoma surgical techniques, such as external trabeculectomy, the development of a new surgical technique—minimally invasive glaucoma surgery (MIGS)—enables the operation to reduce intraocular pressure efficiently while further reducing damage to the eye. MIGS achieves the purpose of surgery mainly by optimizing the TM outflow pathway, uveoscleral outflow pathway, and subconjunctival outflow pathway. A new surgical instrument, the Kahook Dual Blade, appears to optimize the TM outflow pathway in the surgical technique. The Kahook Dual Blade is a new type of angle incision instrument. Because of its unique double-edged design, in the process of goniotomy, it can effectively reduce the damage to the anterior chamber angle structure and accurately remove the appropriate amount of TM so that the aqueous humor can flow out smoothly. Kahook Dual Blade goniotomy has the advantages of avoiding complications and foreign body sensation caused by intraocular implants. The operation time is relatively short, the surgical technique is easy to master, and the TM resection scope can be determined based on the patient’s condition. It can be used to treat some clinically meaningful glaucoma. This article is organized as follows. We present the following article following the Narrative Review reporting checklist.
