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Fuchs' endothelial dystrophy is a common type of posterior CD characterized by the development of gutta in the Descemet membrane. Recently, TCF4 was considered as a major risk gene for European FED cases. However, another recent report has shown that rs613872 was not associated with Singaporean Chinese FEDs. Recent reports indicate the genotypic heterogeneity of FEDs in different ethnic populations. It is thus essential to understand whether these genes affect the occurrence of FEDs and non-Fuchs' CD in the local population. In the present study, we screened several reported SNPs (rs2286812, rs17595731 and rs613827 in TCF4; rs7640737 and rs2292245 in PTPRG) in FED and non-Fuchs' patients with corneal dystrophies of southern Chinese. [ABSTRACT FROM AUTHOR]

Purpose: To observe the relationship between myopia progression and changes in retinal thickness during one year of follow-up among primary school children., Methods: The study included 1161 eyes of 708 myopic children, with 616 (53.06%) right eyes and 545 (46.94%) left eyes. The participants underwent a comprehensive ophthalmic examination, including visual acuity, axial length (AL), autorefraction, and optical coherence tomography (OCT) examination in 2016 and in 2017. An analysis was conducted on the differences in retinal thickness between different genders and between high myopia and nonhigh myopia. Furthermore, the study delved into the correlation between the progression of myopia and the changes of retinal thickness., Results: The average diopter was -1.83 ± 1.29D, average AL was 23.78 ± 0.94 mm, and average foveal thickness was 228.02 ± 23.00  μ m. For the inner retina, the median value [the lower quartile value, the upper quartile value] of the foveal thickness was thicker in the high myopia group than the nonhigh myopia group (67 [64; 74] μ m vs. 63 [56; 70] μ m), while the parafoveal region and perifoveal region were thinner in the high myopia group than the nonhigh myopia group (106 [100; 123] μ m vs. 124 [117; 130] μ m; 95.0 [93; 102] μ m vs. 104 [100; 108] μ m). Among all the children with myopia, 67.53% (784/1161) of them have a diopter progression within one year. The AL progression was 95.43% (1108/1161). The retinal thickness of all children has slightly increased in various regions. As the AL of the eye increased and the diopter decreased, the progression degree of inner retinal thickness and full retinal thickness (exclusive of full fovea) decreased., Conclusion: For the school-age myopic children, the inner foveal retinal thickness were thicker in highly myopic students than in the nonhighly myopic students, while the parafoveal and perifoveal retina were thinner in highly myopic students. The inner and full retinal thicknesses of male students were thicker than that of females. The progression of myopia mainly affected the changes of the inner retinal thickness in the one-year follow-up., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2024 Jing Shang Zhang et al.)

Gap junctions are conductive channels formed by membrane proteins termed connexins, which permit the intercellular exchange of metabolites, ions and small molecules. Previous data demonstrated that traumatic brain injury (TBI) activates autophagy and increases microtubule‑associated protein 1 light chain 3 (LC3) immunostaining predominantly in neurons. Although previous studies have identified several extracellular factors that modulate LC3 expression, knowledge of the regulatory network controlling LC3 in health and disease remains incomplete. The aim of the present study was to assess whether gap junctions control the in vivo expression of LC3 in TBI. Using a modified weight‑drop device, adult male Sprague‑Dawley rats (weight, 350‑375 g) were subjected to TBI. Phosphorylated gap junction protein levels and LC3‑Ⅱ levels were quantified using western blot analysis. The spatial distribution of immunoreactivity for phosphorylated connexin 43 (p‑CX43) and LC3‑Ⅱ was analyzed by immunofluorescence. The results showed that p‑CX43 expression in the hippocampus reached a maximum level 6 h following injury. In addition, the immunoreactivity of p‑CX43 was localized in the astrocytes surrounding pyramidal neurons. The LC3‑Ⅱ protein content remained at high levels 24 h following injury. Double immunolabeling demonstrated that LC3‑II dots colocalized with the hippocampus pyramidal neurons. Furthermore, inhibition of p‑CX43 reduced TBI‑induced autophagy, according to western blot analysis. As astrocytic gap junction coupling is affected in various forms of brain injury, the results suggest that point gap junctions/connexins are important regulators of autophagy in the hippocampal neurons following TBI.

Diffuse brain injury (DBI) is a leading cause of mortality and disability among young individuals and adults worldwide. In specific cases, DBI is associated with permanent spatial learning dysfunction and motor deficits due to primary and secondary brain damage. Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase (NOX) is a major complex that produces reactive oxygen species (ROS) during the ischemic period. The complex aggravates brain damage and cell death following ischemia/reperfusion injury; however, its role in DBI remains unclear. The present study aimed to investigate the hypothesis that levels of NOX2 (a catalytic subunit of NOX) protein expression and the activation of NOX are enhanced following DBI induction in rats and are involved in aggravating secondary brain damage. A rat model of DBI was created using a modified weight-drop device. Our results demonstrated that NOX2 protein expression and NOX activity were enhanced in the CA1 subfield of the hippocampus at 48 and 72 h following DBI induction. Treatment with apocynin (50 mg/kg body weight), a specific inhibitor of NOX, injected intraperitoneally 30 min prior to DBI significantly attenuated NOX2 protein expression and NOX activation. Moreover, treatment with apocynin reduced brain edema and improved spatial learning function assessed using the Morris water maze. These results reveal that treatment with apocynin may provide a new neuroprotective therapeutic strategy against DBI by diminishing the upregulation of NOX2 protein and NOX activity.

Purpose: To identify the genetic defect in a Chinese family with bilateral congenital cataract., Methods: A three-generation family was recruited in this study. Detailed family history and clinical data were recorded. Ten candidate genes were screened for causative mutations. Direct sequencing was performed to analyze the cosegregation of the genotype with the disease phenotype., Results: Affected individuals presented embryonal nuclear opacities in the lens. Sequencing of the candidate genes showed a heterozygous c. 616T>A variation in the connexin 46 (Cx46) gene, which resulted in the replacement of a highly conserved phenylalanine by isoleucine at codon 206 (p. F206I). This mutation co-segregated with all affected individuals and was not observed in unaffected family members or ethnically matched controls., Conclusions: We report a novel mutation (p.F206I) in the fourth transmembrane domain of connexin 46. These findings thus expand the mutation spectrum of Cx46 in association with congenital cataract.

Objective: To investigate the molecular genetic background in families with nuclear congenital cataract., Methods: Family history and clinical data were recorded. Ten candidate genes were screened for causative mutations. Direct sequencing was performed to analyze the cosegregation of the genotype with the disease phenotype. Effects of amino acid changes on the structure and function of protein were predicted by bioinformatics analysis., Results: Analyses of 20 Chinese families with hereditary nuclear congenital cataract revealed 3 novel mutations. Two of these mutations (V146M and I21N) affected βB2-crystallin (CRYBB2). One mutation (R233H) was detected in βB1-crystallin (CRYBB1). These mutations cosegregated with all affected individuals and were not observed in unaffected family members or the 150 healthy unrelated individuals., Conclusions: The CRYBB2 gene was shown to be another causative gene associated with congenital cataract and microcornea. Three novel mutations in β-crystallin genes (CRYB) were detected in Chinese families with nuclear autosomal dominant congenital cataracts, which underscores the genetic heterogeneity of this condition., Clinical Relevance: Studying the genetics of nuclear cataracts is helpful for better understanding the pathophysiologic mechanisms that underlie this phenotype and for better disease management. This study helps expand the genotype of nuclear cataract and microcornea.

Objective: To study the accuracy of different formulas predicting intraocular lens (IOL) power after excimer laser keratorefractive surgery in order to calculate the diopter of IOL accurately in the clinical practice., Methods: One hundred and eleven cases (222 eyes) were collected in this study and were divided into two groups (A and B) according to their axial length. Fifty-nine cases (118 eyes) with axial lengths of 24-26 mm were taken as group A, and 52 cases (104 eyes) with axial length of more than 26 mm were taken as group B. All of the subjects enrolled in this study were examined by the IOL-Master before and after LASIK, including the axial length, corneal curvature, anterior chamber depth (ACD), and the IOL power which was predicted by the SRK-II, SRK/T, Hoffer Q, Holladay, Haigis-L formulas and the Clinical History method offered by IOL-Master. The significance of the differences was analysed by using student's t-test., Results: The corneal curvature after LASIK decreased significantly (t = 12.10, P < 0.01); the length of axis and ACD also decreased but had no significant differences as compared with pre-operation. The IOL powers of the two groups offered by the Haigis-L formula were significantly more than that offered by other formulas (t = 0.54, 1.21, P < 0.01). The difference between the Haigis and Haigis-L formulas was the smallest, and the difference between the SRK-II and Haigis-L formula was the greatest. The IOL powers offered by the clinical history method were higher than that offered by these formulas; the differences were significant in both group A and group B, except the group A in SRK-II (t = 0.00, -1.73, 0.00, P < 0.01). The IOL powers offered by Haigis-L were greater than that from the clinical history method or other formulas and showed significant differences except that between Haigis-L and CH-Haigis or CH-Haigis-L formula (P < 0.01)., Conclusions: Taking into consideration the difference of IOL power offered by Haigis-L formula as compared with other current formulas, evaluation by IOL-Master will be helpful for improving the accuracy of IOL power prediction for the cataract eyes receiving corneal refractive surgery. However, the accuracy of the Haigis-L formula for eyes after corneal refractive surgery still requires to be confirmed by a further series of clinic data.

Congenital cataract is the common cause of visual disability in children. Inherited isolated (non-syndromic) cataract represents one third of cases. Currently, at least 22 specific genes associated with isolated inherited cataract have been identified: ten crystallin genes: CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS; 4 membrane protein genes: GJA3, GJA8, MIP, LIM2; three growth and transcription factor genes: PITX3, MAF, HSF4; two cytoskeletal protein gene: BSFP1, BSFP2; chromatin modifying protein-4B gene: CHMP4B, EPHA2 and NHS, it is likely that more genes remain to be discovered. Some of the genes have been studied for their function by expression in cells or/and by knock-out animal models. The increasing availability of more detailed information about their functions makes it possible to understand the pathophysiology of congenital cataracts.

Objective: To evaluate the visual performance of patients with Tecnis ZM900 aspherical diffractive multifocal intraocular lens (MIOL) as compared with aspherical monofocal intraocular lens (IOL)., Methods: A prospective nonrandomized controlled study was conducted. Consecutively 114 senile cataract patients (114 eyes) received phacoemulsification and IOL implantation, 57 patients (57 eyes) were implanted Tecnis ZM900 MIOL (multifocal group) and 57 patients (57 eyes) were implanted aspherical Tecnis ZA9003 IOL (monofocal group). All patients were assessed at 3 months postoperatively: uncorrected and best corrected visual acuities for distance and near, distance corrected near visual acuity, higher-order aberrations of IOL, modulation transfer function, contrast visual acuity at different contrast levels and different distance (40 cm, 63 cm and 100 cm) and pseudoaccommodation. Patient satisfaction (spectacle independence, photic phenomena and overall satisfaction) was assessed by a questionnaire., Results: At 3 months post-operation, both uncorrected near visual acuity and distance corrected near visual acuity were significantly better in multifocal group than monofocal group (t = - 7.62, - 9.89, P < 0.05). The accommodative range was (4.74 +/- 1.05) D in multifocal group and (1.65 +/- 0.68) D in monofocal group (P < 0.01). There was no statistically significantly difference between the two groups in IOL higher-order aberration with different pupil sizes (3 mm vs 5 mm). At the distance of 40 cm and 63 cm, visual acuity scores were higher in multifocal group than in monofocal group (P < 0.01). Modulation transfer function was similar in the two groups and there was no statistically significantly difference. The spectacle independence was 85.9% in multifocal group versus 24.6% in the monofocal group (chi2 = 43.46, P < 0.05)., Conclusion: Compared with aspherical monofocal IOL, the Tecnis ZM900 aspherical diffractive MIOL not only provided certain pseudoaccommodation with a better useful near visual acuity, but also provided a better quality of vision, resulting in higher levels of spectacle independence and patient satisfaction.

Objective: To investigate the relationship between high frequency component of accommodative microfluctuation (HFC) and the pseudo accommodation after the implantation of foldable intraocular lenses (IOL)., Methods: With ARK-730A accommodation analyzer we checked HFC in 50 cases (50 eyes) of patients who had good pupil reaction to light and the pupil diameter was 2.0 approximately 3.5 mm approximately. Three months after the implantation of foldable IOL, the relationship among ciliary muscle accommodative microfluctuation, IOL movement and pseudo accommodation was analyzed., Results: There was positive correlation between ciliary muscle accommodative microfluctuation and IOL movement (r = 0.702, P < 0.01), between IOL movement and pseudo accommodation (r = 0.861, P < 0.01), and between ciliary muscle accommodative microfluctuation and pseudo accommodation (r = 0.915, P < 0.01). Pseudo accommodation was greater in patients who showed more ciliary muscle accommodative microfluctuation and IOL movement., Conclusion: HFC induces IOL movement, and it is one of the most important reasons for pseudo accommodation after foldable IOL implantation.