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.

Objective: This study aimed to compare the accuracy of six new generation intraocular lenses (IOL) refractive power calculation formulas (Barrett Universal Ⅱ [BU Ⅱ ], Emmetropia Verifying Optical [EVO], Hill-Radial Basis Function [Hill-RBF], Kane, Ladas Super Formula [LSF], T2) and traditional formulas (Haigis, Hoffer Q, Holladay 1, SRK/ T). Methods: The patients who received cataract surgery in the Eye Hospital of Wenzhou Medical University from January 2022 to June 2022 were included in this study. Age, gender, axial length (AL), mean keratometry, anterior chamber depth, IOL constant and power, and postoperative refraction results were collected. The prediction accuracy of these ten IOL power calculation formulas was analyzed, including mean prediction error (ME) and its standard deviation, mean absolute prediction error (MAE), median absolute prediction error (MedAE), maximum absolute prediction error (MaxAE), the percentage of eyes of PE within the range of ±0.25 D, ±0.5 D, ±0.75 D, ±1.0 D (%±0.25 D,%±0.50 D, %±0.75 D, %±1.00 D). Results: 506 eyes of 506 patients were included. Kane has the lowest MAE (0.411).%±0.25 D of Hill-RBF was the highest (40.91%), %±0.50 D or %±0.75 D of EVO was the highest (69.37%, 86.17%), and %±1.00 D of BU Ⅱ and Hill-RBF was the highest (94.07%). There are significant differences in MAE, %±0.50 D, %±0.75 D, and %±1.00 D among all formulas (P<0.05). Still, pairwise comparison only found differences between EVO (86.17%), Hill-RBF (85.97%), Kane (85.57%), and Hoffer Q (81.42%) in %±0.75 D (all P<0.05). In AL subgroup, the MAE of EVO (0.390), Hill-RBF (0.388), T2 (0.423) and Kane (0.393) in long AL group was different from that of Hoffer Q (0.681) and Holladay 1 (0.654) (all P<0.05), the difference of %±0.50D of EVO (74.47%) compared with Hoffer Q (46.81%) (P=0.017). Conclusion: The new generation of IOL power calculation formulas have good accuracy in IOL power prediction, but for eyes with different axial lengths and keratometry, it is necessary to optimize the selection of formulas to improve the prediction accuracy further.

As a new non-invasive and simple subjective examination method, critical flicker fusion frequency (CFF) can dynamically reflect the changes of visual function of human eyes. As a sensitive indicator for early identification of demyelinating diseases and assessment of visual function recovery, it has been used by foreign scholars in the last century in the field of retinal and optic nerve diseases, including chloroquine toxic retinopathy, diabetic retinopathy, central serous retinopathy, age-related macular degeneration, ethambutol-induced optic neuropathy, optic neuritis and non-arteritic anterior ischemic optic neuropathy. Though there was a different decrease of CFF in retina and optic nerve diseases, it may be helpful for the differentiation of retinal and optic nerve diseases according to the degree of CFF improvement and the main damaged color light. Moreover, CFF has a good correlation with other visual functions, visual acuity, visual field, and peak time of visual evoked potential. At present, and relevant domestic studies is still in its infancy. This article summarizes the application of CFF in retinal and optic nerve diseases.

    Artificial intelligence (AI) has been proposed as a potential solution to address the shortage of ophthalmologists in China. With the increasingly extensive application of AI in the field of ophthalmology, many potential patients with eye diseases have access to a higher quality of medical services. At the same time, new challenges will emerge and proliferate with the advancement of AI application. This paper focuses on the patient handoffs process and discusses two challenges brought by the application of AI, namely “communication” and “standardization”. Natural language processing techniques and the development of standardized databases are proposed to solve each of these challenges. The application prospects of AI in ophthalmology are eventually discussed.

Congenital ectopia lentis is a relatively rare zonular disorder of the lens, and its surgical treatment is extremely challenging. The traditional surgical procedures represented by intraocular lens suspension are prone to result in serious complications such as capsular bag rupture, vitreous hernia, intraocular lens dislocation and secondary glaucoma. In recent years, with the goal of reconstructing the capsular bag–zonules diaphragm, the application of new capsular bag-assisted devices has greatly improved the surgical success rate of congenital ectopia lentis. However, the capsular-assisted devices, such as modified capsular tension ring, are still difficult to be popularized in China and the surgical procedures are complicated. Therefore, how to maximize the use of common equipment such as normal capsular tension rings and design a safe and reliable surgical method for the treatment of congenital ectopia lentis is an urgent issue for ophthalmologists. This article aims to introduce a two-stage capsular tension ring fixation for the treatment of congenital ectopia lentis, which has many advantages such as simple and safe operation, stable postoperative effect and less requirements for special equipment, and is worth promoting in clinical practice.

Artificial intelligence (AI) is about simulating and expanding human intelligence. AI based on deep learning (DL) can analyze images well by using their inherent features, such as outlines, frames and so on. As researchers generally diagnoses ocular fundus diseases by images, it makes sense to apply AI to fundus examination. In ophthalmology, AI has achieved doctor-like performance in detecting multiple ocular fundus diseases through optical coherence tomography (OCT) images, fundus photographs, and ultra-wide-field (UWF) images. It has also been widely used in disease progression prediction. Nonetheless, there are also some potential challenges with AI application in ophthalmology, one of which is the black-box problem. Researchers are devoted to developing more interpretable deep learning systems (DLS) and confirming their clinical feasibility. This review describes a summary of the state-of-the-art AI application in the most popular ocular fundus diseases, potential challenges and the path forward.

Objective: To investigate the protective effects of intermittent fasting (IF) on endotoxin-induced uveitis in mice and its potential anti-inflammatory mechanisms. Methods: Mice were randomly divided into three groups: control group (Ctr), endotoxin-induced uveitis (EIU) group, and IF + EIU group. The IF regimen followed a 16:8 fasting scheme (feeding from 9:00 to 17:00). The control group received intravitreal injections of PBS, while the other two groups received intravitreal injections of lipopolysaccharide (LPS). After modeling, fasting blood glucose and body weight of the mice were monitored. Inflammation levels were assessed using OCT and H&E staining. Retinal flat mounts were used for evaluating neuroinflammation. BV2 cells were divided into Ctr group, LPS group, and starvation (LG) + LPS group. The expression levels of related proteins and mRNA were detected using WB and RT-qPCR. Results: IF had no significant effect on body weight but caused a significant decrease in blood glucose, which gradually recovered. From the middle stage of the disease, mice in the IF intervention group show edretinal edema recovery, significantly reduced intravitreal inflammatory exudation and cell infiltration compared to the EIU group (P <0.01). IF reversed LPS-induced microglial activation and significantly alleviated damage to retinal ganglion cells and nerve fibers (P <0.05). Starvation culture significantly inhibited LPS-induced expression levels of p-STAT1/3 and iNOS proteins in BV2 cells (P <0.05) and significantly reduced the expression levels of inflammatory factors such as iNOS and IL-6. Conclusion: IF can accelerate the resolution of EIU inflammation, reduce inflammatory damage to tissue structures, and inhibit pro-inflammatory activation of microglia.

Objective: To investigate the current situation of critical thinking abilities of masters’ degree postgraduates in ophthalmology and identify the factors affecting the critical thinking abilities. Methods: Using the Critical Thinking Disposition Inventory-Chinese Version (CTDI-CV), a questionnaire survey was conducted among 81 masters’ degree postgraduates in ophthalmology. Results: The average total score of the CTDI-CV for the 81 master’s degree postgraduates in ophthalmology was 294.79±29.18, indicating a general possession of positive critical thinking abilities, yet scores in “Truth Seeking” and “Systematicity” were relatively low. There are differences in critical thinking abilities among master’s degree postgraduates in ophthalmology of various grades and degree categories. Multivariate linear regression indicates that degree categories is correlated with the critical thinking abilities of ophthalmology graduate students. Conclusions: The masters’ degree postgraduates in ophthalmology generally exhibit positive traits of critical thinking, yet there is room for improvement in specific areas. Postgraduate education should adopt targeted measures to cultivate the critical thinking abilities of postgraduates.

Glaucoma is the leading cause of irreversible blindness worldwide. Lowering intraocular pressure (IOP) is the only proven intervention to effectively prevent visual field deterioration and slow the progression of glaucoma. Surgery plays a critical role in reducing IOP, with traditional glaucoma surgeries focusing primarily on classic filtration procedures. In recent years, minimally invasive glaucoma surgeries (MIGS), characterized by less trauma, milder postoperative inflammation, and fewer complications, have been increasingly applied and continuously refined in clinical practice. Ultrasound cycloplasty (UCP) is a novel, minimally invasive technique for glaucoma treatment. This article reviews existing research both domestically and internationally, showing that UCP demonstrates good IOP-lowering effects in various types of glaucoma, though its efficacy varies across different glaucoma types. UCP reduces the need for postoperative anti-glaucoma medications, while also exhibiting fewer complications and milder postoperative reactions. Compared with other ciliary body function-reducing surgeries, UCP is particularly effective in alleviating local pain caused by elevated IOP in patients with refractory glaucoma. The type of Glaucoma, matching of the ultrasound probe model, and the number of treatment sectors are key factors influencing UCP efficacy. Accurate selection of indications and optimization of surgical parameters will further enhance its therapeutic outcomes. This article summarizes the mechanisms, surgical procedures, postoperative medication, indications and contraindications, efficacy, safety, and factors influencing UCP outcomes in glaucoma treatment, aiming to provide a reference for its clinical application and research.

Age-related macular degeneration (AMD) is a leading cause of blindness among the elderly, characterized by the degeneration of retinal pigment epithelial cells and the death of photoreceptors. The pathogenesis of AMD is complex, involving a multitude of factors, including genetic, environmental, and metabolic influences. Cellular senescence serves as a significant risk factor for AMD, where cells enter a permanent state of cell cycle arrest after a limited number of divisions. As age increases, the accumulation of senescent cells is closely associated with various age-related chronic diseases. Key mechanisms underlying cellular senescence include oxidative stress, DNA damage, mitochondrial dysfunction, defects in autophagy and mitophagy, and epigenetic alterations. In the context of AMD, various cell types-including pigment epithelial cells, vascular endothelial cells, cells of Bruch's membrane, photoreceptors, and microglia-exhibit signs of senescence and related changes. Cellular senescence plays a pivotal role in the pathogenesis of AMD, contributing to the degeneration of different retinal cell types and supporting vascular systems. By thoroughly investigating these mechanisms, there is hope for the development of more effective therapies aimed at restoring and protecting vision in affected patients. This article reviews the biological mechanisms of cellular senescence and its role in AMD, exploring how different cell types contribute to the disease's onset, with the goal of providing new insights into the pathogenesis and treatment of AMD.