Background Genetic mutation remains to be the most common cause of congenital cataract.Whole exon sequencing technology is an ideal method to detect the pathogenic gene mutations.Objective This study was to identify the pathogenic gene in a Chinese autosomal dominant congenital cataract (ADCC) family by whole-exome sequencing.Methods This study complied with Helsinki Declaration and the protocol was approved by Ethic Committee of Peking University Third Hospital.Informed consent was obtained from each subject before any medical examination.A cross-sectional study was designed.A Chinese ADCC family with 4 generations and 48 members were enrolled in Peking University Third Hospital,of which Ⅰ1 and Ⅰ2 died.The periphery blood of 8-10 ml was collected from each member of Ⅱ,Ⅲ and Ⅳ generations for the high throughput sequencing of genes using whole exon trapping and new sequencing technology,and the sequencing results were compared with the data of human HA PMAP8,dbSNP130 and 1000 Genome Project database.The synonymous mutation was filtered after reported common variants,and the false positive results of explicit sequencing were finally excluded by Sanger sequencing and then the candidate genes were identified.The mutation genes were screened to determine the pathogenic gene of this ADCC family.Results Eleven ADCC patients were found in this family,and the patients distributed in each generation with an equal chance for involvement in male and female subjects,which conformed to an autosomal dominant inheritance pattern.All the patients were nuclear cataract.Genome-wide whole-exome sequencing found that major intrinsic protein (MIP) gene was known genes of ADCC in initially identified candidate genes,so the Sanger was used to verify the MIP gene.The heterozygous mutation of MIP gene (chr12:56845250 C ＞ T) appeared to be the pathogenic cause of this ADCC family.The mutation occurred in the splice sites of the gene,resulting in the fourth exon coded-61 amino acids are replaced by leucine,histidine and serine,which lead to the abnormal truncated proteins.Conclusions The heterozygous mutation of MIP gene is the molecular pathogenesis of this Chinese ADCC family.

Objective:To identify the proteins differentially expressed in extraocular muscles between restrictive strabismus patients with thyroid-associated ophthalmopathy (TAO) and concomitant esotropia patients by proteomic analysis using tandem mass tag (TMT).Methods:Extraocular muscles samples from 5 restrictive strabismus patients with TAO and 5 concomitant esotropia patients were collected at Peking University People's Hospital from August 2019 to December 2020.All the patients received strabismus surgery.Differentially expressed proteins (DEPs) in extraocular muscles samples were identified by quantitative proteomic analysis and bioinformatic analysis based on TMT.Fold change≥1.2 or≤0.83 and P value<0.05 was regarded as the threshold to screen DEPs.GO annotation, KEGG pathways enrichment analysis and protein-protein interaction (PPI) network of DEPs were conducted through UniProtGOA and STRING.This study protocol was approved by the Ethics Committee of Peking University People's Hospital (No.2021PHB058-001). Results:A total of 53 DEPs were identified, 34 of which were up-regulated and 19 were down-regulated.The biological processes DEPs mainly participated included response to stimulation, multicellular organismal process, metabolism, developmental process, intracellular signal transduction, and positive regulation of biological process.DEPs were involved in pathways including focal adhesion, tight junction, regulation of action cytoskeleton, and apoptosis.Six key proteins identified using PPI network were myosin heavy chain 2, myosin heavy chain 7, myosin regulatory light chain, α-actinin-2, fibrinogen alpha chain and fibrinogen beta chain.Conclusions:There are DEPs in extraocular muscles between restrictive strabismus patients with TAO and concomitant esotropia patients.Myosin, actinin and filamin may be involved in the pathogenesis of TAO through regulation of actin cytoskeleton and focal adhesion.

Objective:To explore the application of artificial intelligence (AI) assistant system combined with case-based learning (CBL) in the teaching of strabismus specialty for ophthalmic residents.Methods:Forty ophthalmic residents who were trained in the Department of Ophthalmology of the People's Hospital of Peking University from January 2020 to December 2021 were divided into control group and experimental group, with 20 people in each group. The control group used the traditional teaching mode, and the experimental group used AI assistant system combined with CBL teaching. At the end of specialized training, the two groups were assessed for theoretical knowledge, clinical skills, clinical thinking and questionnaire survey, and the teaching effect was evaluated. SPSS 26.0 was used for Chi-square test, one-way ANOVA and independent-samples t-test. Results:The scores of theoretical knowledge [(34.10±1.33) points], clinical skills [(24.75±1.02) points] and clinical thinking [(24.80±0.77) points] in the experimental group were significantly higher than those in the control group [(33.15±1.35) points, t=2.24, P=0.031; (23.60±0.82) points, t=3.93, P<0.001; (24.20±0.83) points, t=2.37, P=0.023]. For the evaluation of teaching effect, the experimental group improved the learning interest ( t=11.47, P<0.001), clinical thinking ability ( t=9.36, P<0.001), knowledge and skill level ( t = 17.71, P < 0.001), knowledge sharing ( t=31.17, P< 0.001) and overall satisfaction ( t=10.60, P<0.001), and these 5 aspects were scored higher in experimental group compared with the control group. Conclusion:The teaching mode combining AI assistant system and CBL teaching can improve the independent diagnosis and treatment ability of ophthalmic residents for strabismus diseases, establish a correct clinical thinking path, and obtain a better teaching effect than the traditional teaching mode.

AIM: To analyze the clinical characteristics of acute acquired concomitant esotropia(AACE)in patients among different age groups.METHODS: Retrospective analysis of clinical data. A total of 112 non-Swan type AACE patients who underwent surgery at Peking University People's Hospital from January 2015 to December 2022 were retrospectively analyzed. Clinical data were collected and the characteristics were compared, including gender, age, diopter, duration of disease, daily time spent on near work, angles of deviation before and after surgery, stereopsis, etc. According to age, patients were divided into three groups: <18 years old group(22 cases), 18-45 years old group(67 cases), and >45 years old group(23 cases). The clinical characteristics of patients were compared in each group.RESULTS: A total of 112 patients were included in the study, comprising 56 males and 56 females, with a median age of 29.50(19.25, 41.75)years old. Among them, 97 patients had myopia(86.6%). There were 93 patients(83.0%)who spent more than 8 h on near work. The age group <18 years old had the shortest duration before surgery, with a median time of 1.00(0.50, 1.00)a, the minimum negative diopter, with a median diopter of -0.75(-3.19, -0.56)D in the right eye and the diopter of -1.25(-2.81, -0.75)D in the left eye, and the maximum preoperative near angle of deviation, with a median angle of 30.00(18.50, 80.00)PD, and the maximum preoperative distant angle of deviation, with a median angle of 35.00(23.75, 80.00)PD. All these differences were statistically significant compared with other two groups(both P<0.05). For the age group from 18 to 45 years old, the median near angle of deviation was 20.00(14.00, 30.00)PD, and the median distant angle of deviation was 25.00(20.00, 35.00)PD, both of which were higher than those in the age group >45 years old(both P<0.05). For the age group >45 years old, the median near angle of deviation after surgery was -4.50(-7.50, 0)PD, and the median distant angle of deviation after surgery was 4.50(0, 9.50)PD, which were smaller than those in other two groups(all P<0.05). The age group >45 years old had the hiughest surgical success rate(100%). The preoperative stereopsis was better in age group >45 years old than the group <18 years old(P<0.05). The postoperative stereopsis of the age group of 18 to 45 years old and the age group >45 years old was better than age group <18 years old(both P<0.05).CONCLUSION: Surgical patients with AACE are mainly in the age group from 18 to 45 years old. The characteristic of angle of deviation is that distant angle of deviation is greater than near angle of deviation. The patients <18 years old have larger preoperative angles of deviation than adults, while their stereoacuity is worse than adults in the early postoperative period. It is recommended that augmented-dose surgery should be performed in AACE patients who are in the age group of 18 to 45 years old(5-10 PD). A conservative surgery should be designed for hyperopia young children without established binocular vision.