A case of chronic granulocytic leukocytes first diagnosed in ophthalmology and literature review

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Abstract Objective To investigate the ocular manifestations, diagnosis, treatment and prognosis of chronic myeloid leukemia (CML), a case with binocular fundus hemorrhage is reported. Method Detailed records were recorded of a middle-aged woman who was admitted to the Ophthalmology clinic of Chengdu First People's Hospital on November 19, 2023 due to "ocular fundus hemorrhage". The fundus examination and systemic blood routine examination showed abnormalities, and our department suspected blood tumor-related diseases. The patient was then actively transferred to the hematology department for treatment. Through bone marrow imaging, chromosome karyotype analysis of bone marrow cells, BCR/ABL1 fusion gene qualitative test results, the final diagnosis of "chronic granulocytic leukocyte"; Our department of follow-up observation for more than 1 month, with the stability of hematology, the patient's fundus hemorrhage lesions also subsided. In this paper, all the reports of this case in China were searched so far, and the foreign literature was analyzed and summarized. Results This case is very rare, so far only 19 cases have been reported abroad and only 3 cases in China. Results This case is very rare, so far only19 cases have been reported abroad and only 3 cases in China. Conclusion Fundus change is a non-specific manifestation of CML patients and is only reported as a case in the literature,Meanwhile, leukemic retinopathy has certain clinical reference value for the diagnosis and prognosis of CML.

Application of the Hospital Anxiety and Depression Scale to explore the risk of anxiety and depression in patients with high myopia

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Abstract Objective: To explore the association between high myopia and anxiety and depression. Methods: Clinical data were collected from 149 patients with high myopia, and their anxiety and depression were assessed using the Hospital Anxiety and Depression Scale HADS. The correlation between high myopia and anxiety and depression was explored using statistical analysis. Results: Among the study population, the percentage of anxious patients was 19.46% and the percentage of depressed patients was 29.53%. No association was found between cataract surgery and anxiety depression in highly myopic patients. There was an independent correlation between anxiety and depression scores of highly myopic patients and gender and educational level, which was statistically significant. CONCLUSIONS: Between 19% and 29% of patients with high myopia were likely to suffer from depression and anxiety disorders, and males and highly educated patients with high myopia had a higher risk of anxiety and depression.
Original Article

Identification of novel drug targets for diabetic retinopathy: proteome-wide mendelian randomization and colocalization analyses

:22-40
 

Aims:To identify plasma proteins with causal links to diabetic retinopathy (DR) for potential therapeutic targets.

Materials and methods:Summary statistics of plasma protein quantitative trait loci (pQTL) were derived from two extensive GWAS datasets and onesystematicreview, with over 100 thousand participants covering thousands of plasma proteins. DR data were sourced from the largest FinnGen study, comprising 10,413 DR cases and 308,633 European controls. Two-sample MR approach was utilized to investigate the causality of plasma proteins with DR, followed by bidirectional MR, Bayesian Co-localization analysis, and phenotype scanning to ensure the robustness of the MR results. Druggabilityand enrichment analysisof the identified proteins were systematically evaluated. 

Results:Genetically predicted levels of 24 proteins were significantly associated with DR risk after multiple testing corrections. For each standard deviation increase in plasm protein levels, the odds ratio (OR) for DR varied from 0.51 (95% CI: 0.36-0.73; P=2.22×10-5) for Tubulin Polymerization-Promoting Protein Family Member 3 (TPPP3) to 2.02 (95% CI: 1.44-2.83; P=5.01×10-5) for Olfactomedin like 3 (OLFML3). Four proteins exhibited strong co-localization evidence (PH4 ≥0.8): WARS, ACRBP, and ICAM1 were negatively associated with DR risk, while NOTCH2 showed a positive association. Drugability assessments highlighted these 24 proteins as potential DR targets, with two of them currently in phase I clinical trials.

Conclusions:Twenty-four promising drug targets for DR were identified, including four plasma proteins with particular promise. These findings offer new insights into DR's etiology and therapeutic targeting, exemplifying the value of genomic and proteomic data in drug target discovery.

A mutation in the filamin c gene causes paralytic strabismus: a case report and literature review

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Filamin C (FLNC) is a muscle protein encoded by the FLNC gene, which plays a crucial role as a muscle actin cross-linking center in skeletal and cardiac muscles, essential for maintaining cytoskeleton stability. Dominant autosomal mutations in the FLNC gene have been linked to various types of cardiomyopathies, myofibrillar myopathies (MFMs), and distal myopathies, representing rare, slowly progressive genetic muscle disorders typically starting in middle age. Evaluation of extraocular muscle strength in patients with FLNC gene mutations is relatively limited in current literature, with no clear documentation of its association with extraocular muscle weakness. This article reports a middle-aged male patient with ocular manifestations of incomplete closure of both eyelids, the outward turning of the right eye were completely limited, and the outward and inward turning of the left eye were completely limited. Following genetic testing, the patient was found to have a missense mutation in the FLNC gene (c.7423G>A:p.Val2475Ile). The patient also exhibits systemic manifestations including facial deformity and difficulty in squatting and standing. Combined with genetic testing results, the diagnosis was determined as acquired FLNC gene mutation-induced paralytic strabismus. This case illustrates the diverse phenotypes associated with FLNC variants, highlighting a novel mutation site in FLNC myopathy and the rare presentation of extraocular muscle weakness in the patient, expanding the clinical spectrum of FLNC gene mutation-related muscle disorders. It also emphasizes the importance of assessing the functional status of extraocular muscles during the examination and monitoring of FLNC myopathies.
Original Article

Harnessing AI–human synergy for deep learning research analysis in ophthalmology with large language models assisting humans

:8-18
 
Background: Research innovations inoculardisease screening, diagnosis, and management have been boosted by deep learning (DL) in the last decade. To assess historical research trends and current advances, we conducted an artifcial intelligence (AI)–human hybrid analysis of publications on DL in ophthalmology. Methods: All DL-related articles in ophthalmology, which were published between 2012 and 2022 from Web of Science, were included. 500 high-impact articles annotated with key research information were used to fne-tune alarge language models (LLM) for reviewing medical literature and extracting information. After verifying the LLM's accuracy in extracting diseases and imaging modalities, we analyzed trend of DL in ophthalmology with 2 535 articles. Results: Researchers using LLM for literature analysis were 70% (p = 0.000 1) faster than those who did not, while achieving comparable accuracy (97% versus 98%, p = 0.768 1). The field of DL in ophthalmology has grown 116% annually, paralleling trends of the broader DL domain. The publications focused mainly on diabetic retinopathy (p = 0.000 3), glaucoma (p = 0.001 1), and age-related macular diseases (p = 0.000 1) using retinal fundus photographs (FP, p = 0.001 5) and optical coherence tomography (OCT, p = 0.000 1). DL studies utilizing multimodal images have been growing, with FP and OCT combined being the most frequent. Among the 500 high-impact articles, laboratory studies constituted the majority at 65.3%. Notably, a discernible decline in model accuracy was observed when categorizing by study design, notwithstanding its statistical insignificance. Furthermore, 43 publicly available ocular image datasets were summarized. Conclusion: This study has characterized the landscape of publications on DL in ophthalmology, by identifying the trends and breakthroughs among research topics and the fast-growing areas. This study provides an efcient framework for combined AI–human analysis to comprehensively assess the current status and future trends in the feld. 

The Kashgar Model for the Promotion and Application of Cataract Phacoemulsification Technology in Pakistan

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Phacoemulsification technology is an advanced method for treating cataracts, the leading cause of blindness worldwide. Kashgar, located in the westernmost part of China, has extensive economic, cultural, and medical exchanges with Central Asia. Promoting the application of cataract phacoemulsification technology in Pakistan aims to improve the treatment outcomes for local cataract patients and reduce the disease's blindness rate. The project leverages Pakistan's existing medical resources and technological equipment, relying on Kashgar's geographical and medical advantages, combined with the actual situation and needs of local medical staff. Through conducting doctor training, sending instructors to assist with surgeries in Pakistan, and refining surgical procedures, the project successfully implemented cataract phacoemulsification technology, effectively enhancing the treatment success rate and patient satisfaction. During the implementation process, the project encountered some difficulties and challenges but overcame them through team cooperation and scientific management, achieving good results. Ultimately, the project formed the distinctive Kashgar model, bringing a boon to cataract patients in the Pakistan region and potentially offering a reference for the promotion of other medical technologies.

The inhibitory effect of bilberry extract on RPE cells oxidative damage and angiogenesis

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To investigate the inhibitory effect of bilberry extract on retinal pigment epithelial (RPE) cells oxidative damage and angiogenesis. Methods: ①Human RPE cells (ARPE-19) were divided into three groups,control group, model group and bilberry extract group. The model group was treated with 0.5mmol/L SIN-1 for 24 hours, and the bilberry extract group was treated with 10ng/ml bilberry extract, followed by 0.5mmol/L SIN-1 for 24 hours. Cell viability was measured by CCK-8. Level of reactive oxygen species (ROS) was determined using flow cytometry.② Human umbilical vein endothelial cells (HUVEC) were divided into three groups,control group, model group and bilberry extract group. The model group was treated with 10ng/ml VEGF for 8 hours, and the bilberry extract group was treated with 10ng/ml bilberry extract for 12 hours, followed by 10ng/ml VEGF for 8 hours. Cell migration and invasion were measured by wound healing assay and Transwell assay. Cell angiogenesis was determined by tube formation assay. Results: ① Bilberry extract(≤10ng/ml)had no obvious toxicity to ARPE-19 cells. SIN-1 treatment significantly reduced the viability of ARPE-19 cells, while incubation with 10ng/ml bilberry extract could restore to the normal level(p<0.001). Therefore the following experiments were used by 10ng/ml bilberry extract. Meanwhile, bilberry extract could significantly reduce SIN-1-induced ROS levels in ARPE-19 cells(p<0.0001). ② VEGF treatment significantly enhanced the migration and invasion of HUVEC, while incubation with 10ng/ml bilberry extract could weaken(p<0.001). Meanwhile, bilberry extract could significantly inhibit VEGF-induced tube formation in HUVEC(p<0.0001). Conclusion: Bilberry extract is a potential treatment for AMD, which has significant antioxidant and anti-angiogenic activities.

The inhibitory effect of bilberry extract on RPE cells oxidative damage and angiogenesis

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To investigate the inhibitory effect of bilberry extract on retinal pigment epithelial (RPE) cells oxidative damage and angiogenesis. Methods: ①Human RPE cells (ARPE-19) were divided into three groups,control group, model group and bilberry extract group. The model group was treated with 0.5mmol/L SIN-1 for 24 hours, and the bilberry extract group was treated with 10ng/ml bilberry extract, followed by 0.5mmol/L SIN-1 for 24 hours. Cell viability was measured by CCK-8. Level of reactive oxygen species (ROS) was determined using flow cytometry.② Human umbilical vein endothelial cells (HUVEC) were divided into three groups,control group, model group and bilberry extract group. The model group was treated with 10ng/ml VEGF for 8 hours, and the bilberry extract group was treated with 10ng/ml bilberry extract for 12 hours, followed by 10ng/ml VEGF for 8 hours. Cell migration and invasion were measured by wound healing assay and Transwell assay. Cell angiogenesis was determined by tube formation assay. Results: ① Bilberry extract(≤10ng/ml)had no obvious toxicity to ARPE-19 cells. SIN-1 treatment significantly reduced the viability of ARPE-19 cells, while incubation with 10ng/ml bilberry extract could restore to the normal level(p<0.001). Therefore the following experiments were used by 10ng/ml bilberry extract. Meanwhile, bilberry extract could significantly reduce SIN-1-induced ROS levels in ARPE-19 cells(p<0.0001). ② VEGF treatment significantly enhanced the migration and invasion of HUVEC, while incubation with 10ng/ml bilberry extract could weaken(p<0.001). Meanwhile, bilberry extract could significantly inhibit VEGF-induced tube formation in HUVEC(p<0.0001). Conclusion: Bilberry extract is a potential treatment for AMD, which has significant antioxidant and anti-angiogenic activities.

Recent Advances in Research on Iron Homeostasis Imbalance in Keratoconus

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Iron ions play a critical role in maintaining cellular metabolism, DNA synthesis, and repair in the cornea. However, excessive accumulation of iron can lead to cell damage and death through iron-mediated cell death, thus triggering diseases. By summarizing previous research findings and evidence of keratoconus, we speculate that the imbalance of iron homeostasis may be one of the mechanisms underlying corneal stromal thinning and the onset of keratoconus. This article focuses on elucidating the normal iron cycling homeostasis in the cornea and the close relationship between iron homeostasis imbalance and the onset of keratoconus. We emphasize the crucial role of oxidative stress and antioxidant systems in this process, and finally propose potential therapeutic approaches based on iron homeostasis, including iron chelators and modulation of iron death-related proteins. We also discuss the prospects of these therapeutic approaches in corneal diseases. Through comprehensive and in-depth research, this article provides a new perspective on understanding the relationship between iron homeostasis and keratoconus, and offers valuable insights for the development of future personalized treatment strategies.

Association between vascular endothelial function and circulating endothelial progenitor cells in patients with ocular hypertension and primary open-angle glaucoma

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Objective: To evaluate the vascular endothelial function in patients with ocular hypertension and primary open-angle glaucoma, and explore the role of circulating endothelial progenitor cells in this process. Methods: Ocular hypertension (OHT group), primary open-angle glaucoma patients (POAG group), and age- and gender-matched healthy subjects (control group) were included with 30 sample size in each group. All subjects were <65 years old and had no history of cardiovascular disease or cardiovascular risk factors. Routine physical examination, ophthalmic examination and biochemical detection were performed. Brachial artery flow mediated dilation (FMD) was measured using ultrasonic diagnostic system, and the number of circulating endothelial progenitor cells was measured by flow cytometry. Results: Compared with control group, FMD, endothelial progenitor cell count, plasma nitric oxide (NO) content decreased (P<0.05) in OHT group and POAG group, while there was no statistical significance in the comparison of indicators above between OHT group and POAG group (P>0.05). There were no statistical differences in cardiovascular risk factors among the three groups (P>0.05). Partial correlation analysis showed that the number of endothelial progenitor cells in the OHT group and POAG group was significantly positively correlated with FMD (r=0.436, P=0.013) and NO (r=0.385, P=0.036), and negatively correlated with baseline intraocular pressure (r=0.347, P=0.041). Conclusion: Patients with OHT or POAG have systemic endothelial dysfunction, and the mechanism may be related to reduced number of circulating endothelial progenitor cells. Promoting the mobilization of endothelial progenitor cells to improve endothelial function may be a new direction for clinical treatment of patients with OHT or POAG.
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  • Eye Science

    主管:中华人民共和国教育部
    主办: 中山大学
    承办: 中山大学中山眼科中心
    主编: 林浩添
    主管:中华人民共和国教育部
    主办: 中山大学
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