Objective: To analyze the ocular and systemic clinical features of children with CHARGE syndrome, which is a congenital autosomal dominant developmental disorder mainly characterized by coloboma (C), heart disease (H), atresia choanae (A), retarded growth and central nervous system anomalies (R), genital hypoplasia (G), and ear anomalies and deafness (E). Methods: This was a retrospective caseseries study. Eight children (16 eyes) with CHARGE syndrome who visited the Department of Ophthalmology, Xijing Hospital, Air Force Medical University from January 2018 to December 2022 were included in this study. All 8 children underwent ocular and systemic examinations; 4 children underwent genetic testing. The basic birth conditions, medical history, and family history of the children were recorded in detail. The ocular and systemic clinical manifestations of the children were summarized, and the results of gene sequencing were analyzed. Results: Among the 8 children, 5 were male and 3 were female. The age at the first ophthalmological visit ranged from 2 months to 15 years. Five children were first diagnosed in the ophthalmology department, and 3 were referred from the otolaryngology department. All 8 children had ocular abnormalities such as characteristic, asymmetric, and congenital choroidal coloboma. Among them, the proportion of children with hearing impairment was 7/8, ear malformation was 8/8, developmental delay was 7/8, heart malformation was 5/8, intellectual disability was 3/8, choanal stenosis was 1/8, renal malformation was 1/8, and skeletal malformation was 1/8. All 4 children who underwent genetic testing were found to have mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene, and all were pathogenic de novo mutations. Conclusions: The clinical manifestations of children with CHARGE syndrome are diverse and highly associated with CHD7 gene mutations. The main ocular manifestation is tissue coloboma, and it is often accompanied by severe malformations in multiple organ systems such as the ears, heart, nervous system, and endocrine system.
Focal photoreceptor defects refer to a group of diseases characterized by changes in the foveal structure caused by rarefaction or absence of the outer retina. Due to their diverse clinical manifestations and the limitations of previous imaging techniques, these diseases have not received sufficient attention and accurate diagnosis. Their causes can be mainly classified into diseases with primary lesions occurring in the outer retina and outer retinal lesions secondary to other sites of disease. Understanding the potential causes of foveal photoreceptor damage can provide better guidance for the clinical diagnosis and treatment of these diseases. This article reviews the etiology of focal photoreceptor defects.
There are many clinical methods for the treatment of macular hole (MH), which have attracted extensive attention and discussion. Given the various etiologies and pathogeneses of different types of MHs, the mechanisms of the treatments are different, and the choices of treatment methods and the prognoses of MHs are also different. Clinicians should pay more attention to optimize the integral quality of treatments in addition to the closure rate of MHs by making a comprehensive and accurate diagnosis, a thorough inquiry of the disease course, and a precise selection of appropriate surgical strategies, as well as enhancing the treatment safety and postoperative follow-ups. The elaboration in this article aims to provide guidance and approaches for improvement of the MH treatment.
Objective: To explore the correlation between the characteristics of color Doppler flow imaging (CDFI) and histopathological manifestations of choroidal melanoma (CM). Methods: This was a retrospective case series study. The clinical and histopathological data of 49 patients (49 eyes) with CM who underwent enucleation at Tianjin Eye Hospital from February 2004 to March 2022 were collected. All patients underwent CDFI examination and histopathological examination to measure the number of tumor blood vessels. The relationships between the blood flow signals shown by CDFI and the internal blood flow characteristics of the tumor, tumor size, clinical stage, extra-scleral extension grade of the tumor, and cell type were analyzed. The consistency between CDFI and histopathological results was compared using the Adler semi-quantitative method. Paired Wilcoxon signed-rank test and Hodges-Lehman method were used for statistical analysis. Results: Among the 49 CM patients, 28 were male (57.1%) and 21 were female (42.9%). The age was (52.1±11.0) years old, and all cases were unilateral. Regarding the tumor shape detected by CDFI, 26 cases (53.1%) were mushroom-shaped, 11 cases (22.4%) were dome-shaped, and 12 cases (24.5%) were flat and diffuse-shaped. Among the 49 patients, 9 cases (18.4%) had blood flow signal grade Ⅰ, 16 cases (32.7%) had grade Ⅱ, and 24 cases (48.9%) had grade Ⅲ. The location with abundant blood flow inside the tumor was in the superotemporal quadrant in 19 cases (39.6%). The blood flow in the peripheral part of the tumor was more than that in the central part in 34 cases (69.4%). There were 13 large-sized tumors (26.5%), among which 6 cases had grade Ⅰ blood flow signal; 36 medium-sized tumors (73.5%), among which 20 cases (55.6%) had grade Ⅲ blood flow signal. There were 38 cases (77.6%) in the intraocular stage, among which 20 cases (52.6%) had grade Ⅲ blood flow signal; 4 cases in the glaucoma stage, among which 3 cases had grade Ⅰ blood flow signal; 6 cases in the extra-ocular extension stage, among which 4 cases had grade Ⅰ blood flow signal; 1 case in the systemic metastasis stage, showing grade Ⅲ blood flow signal. The extra-scleral extension grade of the tumor was grade Ⅰ (tumor cells involving the sclera) in 31 cases (63.3%), among which 17 cases (54.8%) had grade Ⅲ blood flow signal. There were 32 cases (65.3%) of mixed cell type, among which 17 cases (53.1%) had grade Ⅲ blood flow signal. Histopathological examination showed that the number of blood vessels was 9.0 (6.5, 11.0), the number of blood vessels measured by CDFI was 7.0 (4.0, 9.0), and the difference was 2.0 (1.0, 4.0) [95%CI: 1.5-3.0], and the difference was statistically significant (Z=4.376, P<0.001). The consistency analysis between CDFI and histopathological results showed that the grading was consistent in 40 cases (81.6%) and inconsistent in 8 cases (16.3%). Conclusions: There is a high correlation betwe
Objective: To investigate the role of high mobility group protein B1 (HMGB1), cysteine aspartic protease 1 (caspase-1) and gasdermin D in the pathogenesis of high altitude retinopathy (HAR). Methods: This study is an experimental research. Twelve 8- to 10-week-old male c57BL/6J mice without a specific pathogen grade were randomly divided into the HAR group (HAR model) and control group (normal pressure and oxygen environment) according to the random number table method. Hematoxylin-eosin staining was used to observe the histopathological morphology of the mouse retina, and immunofluorescence staining was used to detect the distribution and expression of HMGB1, caspase-1 and gasdermin D in the mouse retina. The relative expression levels of HMGB1, caspase-1 and gasdermin D proteins in the mouse retina were detected by Western blot. Independent sample t test was used for statistical analysis. Results: Hematoxylin-eosin staining showed that compared with the control group, the retinal nerve fiber layer in the HAR group was thickened, the ganglion cell layer was swollen significantly, the intercellular edema in the inner nuclear layer was increased significantly, and the outer nuclear layer distance was loosened. Immunofluorescence staining results showed that HMGB1 expression in the retina of mice in the HAR group was higher than that in the control group, and it was mainly in the ganglion cell layer, inner nuclear layer and outer nuclear layer. Caspase-1 and gasdermin D expressions in the retina of mice in the HAR group were higher than those in the control group, and they were mainly in the ganglion cell layer, inner plexiform layer and outer plexiform layer. The immunofluorescence values of HMGB1, caspase-1 and gasdermin D in the HAR group [(116.8±62.92), (104.7±13.81) and (95.43±10.72) arbitrary fluorescence units] were higher than those in the control group [(52.93±30.08), (66.00±15.19) and (62.54±16.36) arbitrary fluorescence units]. The differences were statistically significant (all P<0.05). The results of the Western blot test showed that the gray band values of HMGB1, caspase-1 and gasdermin D proteins in the retina of HAR group (1.134±0.060, 1.598±0.165 and 1.422±0.142) were higher than those in the retina of control group (1.000±0.021, 1.000±0.155 and 1.000±0.218), with statistically significant differences (all P<0.05). Conclusions: The expressions of HMGB1, caspase-1 and gasdermin D were significantly increased in the retina of HAR mice. HMGB1-mediated pyroptosis in the retinal tissue of HAR mice through the caspase-1/gasdermin D signaling pathway led to retinal structure destruction and the occurrence or development of HAR.
Objective: Exploring the effect of transforming growth factor β receptor inhibitor SB431542 on autophagy and the formation of retinal epithelial mesenchymal transition (EMT) in retinal pigment epithelial cells under high glucose conditions. Methods: This study was an experimental research. RPE cells were divided into normal group (N group), mannitol group (M group), high glucose group (HG group), high glucose combined with DMSO group (HG+DMSO group) and high glucose combined with SB431542 group (HG+SB431542 group). MTT assay was used to detect cell proliferation. Cell scratch assay was used to detect cell migration. Phalloidin staining was used to detect Fibrotic actin, real-time quantitative PCR (qPCR) and immunofluorescence were used to detect the expression of EMT related proteins Vimentin and E-cadherin. The cell autophagy staining kit detects the expression of autophagosomes. Western blotting (WB), qPCR, and immunofluorescence were used to detect the expression of Beclin1. One-way ANOVA and LSD-t test were used for statistical analysis. Results: The MTT assay showed that the cell optical density values of HG+DMSO group and HG+SB431542 group were 2.02±0.10 and 1.35±0.04, respectively (t=15.39, P<0.001); The results of cell scratch assay showed that the migration rates of cells in HG+DMSO group and HG+SB431542 group were 58.33%±2.07% and 28.17%±1.94%, respectively (t=26.07, P<0.001); Ghost pen cyclic peptide staining revealed spindle shaped changes in HG+DMSO group cells, while HG+SB431542 group cells were able to restore their normal polygonal structure; The qPCR and cell immunofluorescence results showed that the mRNA levels of vimentin in the HG+DMSO group and HG+SB431542 group were 1.03±0.04 and 0.93±0.05, respectively, with fluorescence intensities of (61 828±760) and 46 680±671 AU (tqPCR=3.85, P=0.003; tIF=36.62, P<0.001); The mRNA levels of epithelial calcium adhesion protein were 0.86±0.03 and 1.00±0.04, respectively, with fluorescence intensities of (38 637±880) and (54 988±1 264) AU (tqPCR=8.89, P<0.001; tIF=26.01, P<0.001); Autophagy staining showed that the fluorescence intensity of autophagosomes in HG+DMSO group and HG+SB431542 group was (22.75±1.39) and (33.21±1.95)AU, respectively (t=10.70, P<0.001); WB, qPCR, and cell immunofluorescence results showed that the protein levels of Beclin1 in the HG+DMSO group and HG+SB431542 group were 0.38±0.04 and 0.75±0.08, respectively, and the mRNA levels were 0.77±0.08 and 1.05±0.05, respectively. The fluorescence intensities were (42 639±1 713) and (49 027±1 024) AU, respectively (tWB=9.51, P<0.001; tqPCR=6.90, P<0.001; tIF=7.84, P<0.001). Conclusion: SB431542 inhibits high glucose induced EMT by inducing autophagy in the RPE cells.
A 39-year-old male patient presented with"decreased bilateral visual acuity for more than one year". He has been infected with human immunodeficiency virus (HIV) for more than 10 years, and was diagnosed as "binocular panuveitis" "binocular optic disc vasculitis"in the local hospital, with no improvement after six months of systemic hormone shock, intermittent oral hormone and immunosuppressive treatment. Comprehensive examinations were conducted after arrival, Optical coherence tomography revealed the damage of posterior retina, macular edema, fluorescein fundus angiography showed diffuse punctate transmitted fluorescence and vascular leakage, rapid syphilis serotonin response (RPR) 1∶64, leading to the diagnosis of binocular syphilitic uveitis. After three weeks of antibiotic treatment, oral hormone sequential reduction treatment, disease control, vision recovery.
Objective: To explore the correlation between the nerve growth factor (NGF) in the corneal stroma and the corneal optical quality in high myopia patients wearing soft contact lenses (SCLs) for a long time before small incision lenticule extraction (SMILE). Methods: A retrospective cohort study was conducted. Sixty high myopia patients (120 eyes) who underwent SMILE in Shanghai Tenth People's Hospital from December 2020 to October 2022 were included, with an age of (30.75±4.37) years, including 26 males and 34 females. According to the duration of wearing SCLs before surgery, they were divided into three groups: group A (wearing time>10 years), group B (wearing time≤10 years), and group C (without wearing lenses). General examinations were carried out to collect medical histories and parameters, such as uncorrected visual acuity, intraocular pressure, and axial length of the eye. The Pentacam corneal topography system was used to measure corneal higher-order aberrations, including total higher-order aberrations and various coma aberrations, and to obtain the optical density of different parts and layers of the cornea. A part of the corneal stromal lenticule was used for immunofluorescence detection, and another part was used to detect the NGF level. Results: The expression level of NGF in the corneal stromal lenticules showed an upward trend with the prolongation of the wearing time of SCLs (P<0.05). The total higher-order aberration in group A was (0.39±0.10) μm, and the horizontal coma aberration was (0.17±0.12) μm, both higher than those in group C [(0.33±0.07) μm and (0.09±0.08) μm]. The full-thickness optical density of the central 6-mm annular region of the cornea in group A (13.64±2.08) and that of the central 2-mm circular region of the cornea in group B (13.58±1.28) were both higher than that in group C (12.74±0.85) (all P<0.05). The NGF level in the corneal stromal lenticules in group A was positively correlated with the optical density of the anterior layer and the full-thickness layer within the central 6-mm circular region of the cornea (both P<0.05). In group B, the NGF level in the corneal stromal lenticules was positively correlated with the optical density of the middle layer and the posterior layer within the central 6-mm circular region of the cornea, and also positively correlated with the optical density of the middle layer and the posterior layer of the 2-mm circular region (all P<0.05). The NGF level in the corneal stromal lenticules in group C was also positively correlated with the optical density of the middle layer and the posterior layer of the 0-to 6-mm annular region of the cornea (all P<0.05). Conclusion: In high myopia patients who have worn SCLs for a long time, the expression of NGF in the corneal stromal lenticules increases, the corneal optical quality decreases, and the NGF level is closely related to the corneal optical density.
A 54-year-old male patient presented with decreased vision in both eyes for 2 years. He had previously undergone retinal photocoagulation, peripheral iridotomy, and phakic implantable Collamer lens (ICL) implantation in Shenzhen Aier Eye Hospital Affiliated to Jinan University 10 years ago. He was diagnosed with complicated cataract. The patient underwent ICL extraction, cataract phacoemulsification, and intraocular lens (IOL) implantation in the right eye. During the procedure, zonular ligament rupture occurred, resulting in the IOL being placed in the ciliary sulcus and subsequent recurrent elevated intraocular pressure. Comparatively, he underwent ICL extraction, femtosecond laser-assisted cataract phacoemulsification, tension ring implantation, and IOL implantation in the left eye without complications. Femtosecond laser-assisted cataract surgery demonstrated advantages in a complicated cataract patient who had previously undergone ICL implantation. However, the precision required for laser positioning may lead to ICL damage, and gas bubble accumulation can hinder complete nuclear fragmentation. Therefore, caution is necessary when focusing the femtosecond laser in eyes with ICL.
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