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AIM: To identify the pathogenic gene in a family with primary open angle glaucoma(POAG)from Nantong, Jiang Province, and to analyze its clinical phenotype and pathogenic mechanism.METHOD: A POAG pedigree was reviewed and recruited from January 2020 to December 2020, which spans 5 generations, with 33 people in total. A total of 13 family members were enrolled in our study, of whom 4 members were diagnosed with POAG, 1 with ocular hypertension(OHT), and the other 8 members were unaffected. Detailed medical history was collected and a comprehensive ophthalmic examination was performed. High throughput sequencing was used to screen for possible pathogenic gene, and Sanger sequencing was used to verify candidate pathogenic gene.RESULT: All patients in this family were found to have elevated intraocular pressure(IOP)and diagnosed with glaucoma at a young age, requiring surgical treatments to control the IOP. The highest IOP of proband was up to 55mmHg. A heterozygous mutation(c.1197C>A, p.Phe399Leu)of LTBP2 gene was found in the proband genome by whole exon sequencing(WES). Sanger sequencing verified that the mutation was not isolated from the family disease.CONCLUSION: LTBP2 (c.1197C>A)mutation was not the pathogenic gene of POAG in this family. However, the pathogenic potential of LTBP2 gene in POAG cases is worth studying.

This study focuses on the effect of lateral mass impact on ring-stiffened thin-walled cylindrical shell. Cylindrical shells were fabricated to validate the numerical modeling and analytical techniques, and drop tests were performed using a rigid spherical indenter. Next, stiffened-ring cylindrical shells with various structural size parameters were simulated using ABAQUS software. The relationships between the impact force, deformation displacement, and rebound velocity were established, on the basis of impact mechanics theory and simulation results. It derived fitting functions to analyse the relationship between the maximum load and maximum displacement of ring-stiffened cylindrical shell under dynamic mass impact. Based on the validation of the simulation model, the fitting function data were compared with the simulation results, and the functions showed a good accuracy. Besides, the parameters, mass ratio and stiffened-ring mass ratio were used to reflect the effect of the mass change in the ring-stiffened cylindrical shell. Furthermore, parametric studies on ring-stiffened cylindrical shell models were conducted to analyse the progressive impact responses.