Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families

Objective To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.Methods A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives.The clinical feature analysis included the evaluation of visual acuity,intraocular pressure,slit-lamp anterior segment examination,fundus photography,and spectral domain optical coherence tomography.To identify the mutation responsible for aniridia,targeted next-generation sequencing was used as a beneficial technique.Results A total of 4 mutations were identified,consisting of two novel frameshift mutations(c.314delA,p.K105Sfs*33 and c.838_845dup AACACACC,p.S283Tfs*85),along with two recurring nonsense mutations(c.307C>T,p.R103X and c.619A>T,p.K207*).Complete iris absence,macular foveal hypoplasia,and nystagmus were consistent in these PAX6 haplotype-deficient Chinese aniridia families,while corneal lesions,cataracts,and glaucoma exhibited heterogeneity both among the families and within the same family.Conclusion In our study,two novel PAX6 mutations associated with aniridia were identified in Chinese families,which expanded the phenotypic and genotypic spectrum of PAX6 mutations.We also analyzed the clinical characteristics of PAX6 haplotype deficiency in Chinese aniridia families.

Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

Outcomes of chronic angle-closure glaucoma treated by phacoemulsification and endocyclophotocoagulation with or without endoscopically goniosynechialysis

AIM:To investigate the surgical outcomes of patients with chronic angle-closure glaucoma(CACG)treated with phacoemulsification(phaco)/endocyclophotocoagulation(ECP)with and without endoscopic goniosynechialysis(E-GSL).METHODS:A retrospective,nonrandomized,comparative case series was conducted.Patients with CACG who underwent phaco in combination with either ECP alone(ECP group)or GSL with ECP(E-GSL group)from 2018 to 2019 were followed for 12mo and reviewed.Clinical features and outcomes were identified and analyzed.The ECP and E-GSL groups were matched in age and baseline intraocular pressure(IOP).Changes in IOP,mean of visual acuity(VA),peripheral anterior synechiae(PAS)formation,and the number of glaucoma medications was examined.RESULTS:The ECP group included 32 eyes of 27 patients,and the E-GSL group included 32 eyes of 26 patients.The preoperative baseline IOP was 22.18±6.48 mm Hg in the ECP group and 22.95±6.71 mm Hg in the E-GSL group(P=0.644).The mean IOP reduction was 26.2%in the ECP group and 41.6%in the E-GSL group at 12mo.The mean postoperative VA(log MAR units)at 12mo was 0.47 in the ECP group and 0.36 in the E-GSL group.The reduction in PAS formation and the number of glaucoma medications was also higher in the ECP group than E-GSL group at 12mo.CONCLUSION:The phaco/ECP and phaco/E-GSL groups both achieve a significant reduction in IOP without complications associated with traditional glaucoma filtration surgeries.

Non-destructive study of fruits using grating-based X-ray imaging

Grating-based X-ray imaging can make use of conventional tube sources to provide absorption, refraction and scattering contrast images from a single set of projection images efficiently. In this paper, a fresh cherry tomato and a dried umeboshi are imaged by using X-ray Talbot–Lau interferometer. The seed distribution in the scattering image of the cherry tomato, and the wrinkles of epicarp in the refraction image of the umeboshi, are shown distinctly. The refraction and scattering images provide more information on subtle features than the absorption image. Also, the contrast-to-noise ratio values show distinguishing capacity of the three kinds of imaging techniques. The results confirm that grating-based X-ray imaging is of great potential in non-destructive fruit testing.

Evaluation of corneal graft survival in mice model

AIMTo investigate the characteristics and criterion of graft rejection in mice model.

Evaluation of corneal graft survival in mice model

·AIM: To investigate the characteristics and criterion of graft rejection in mice model. ·METHODS: C57BL/6 or BALB/c mice corneal grafts were grafted onto BALB/c hosts. Each group was divided into two subgroups according to the corneal opacity scores 12d after transplantation. The characteristics of opacity and neovascularization were observed. Mice of the 12 th , 50 th day after transplantation, the grafts biopsy of mice in allogeneic group 1, which opacity score exceed 3, were prepared for histological observation and those restore transparent were endothelial stained. ·RESULTS: There was no difference of corneal opacity score on the 7 th and 12 th day after operation; the histological results had no disparity between syngeneic group and allogeneic group. On the 12 th day after surgery, the turbidity curve was apparent in grafts with opacity score 【2. Mononuclear cells were shown in grafts with opacity score reached 3 in allogeneic group 1. Different rejection performance was observed in tissue sections on the 50 th day after surgery. ·CONCLUSION: Grafts, opacity score exceeds 3 from the 7 th to the 12 th day after operation could not be judged as a rejection. We should pay more attention to the variation of grafts opacity since 12d after corneal transplantation.·