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Chatbots versus retina specialists in answering real-world retina questions. 聊天机器人与视网膜专家在回答现实世界的视网膜问题。
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-31 DOI: 10.1186/s40942-025-00737-7
Mario Cesar Bulla, Caio Augusto Scocco, Viviane Souto Spadoni, Gustavo Matias Hüning, Alexandre Grandinetti, Andre Moraes Freitas, Alexandre Antonio Marques Rosa, Pedro Carlos Carricondo

Background: Chatbots powered by large language models have shown promising results when addressing medical queries, thus transforming access to medical information. Although these chatbots produce detailed and accurate responses, it is unclear how they perform when handling real, unedited patient questions, particularly in non-English languages. This study aimed to assess the readability, accuracy, and comprehensiveness of responses to retinal disease queries provided by four chatbots (ChatGPT 4.0, ConsensusGPT, Gemini, and Claude 3) compared to responses from retina specialists.

Methods: In this cross-sectional, comparative, and blinded study, twenty unedited questions about retinal diseases were randomly selected from a popular online video channel in Portuguese. The questions were submitted to the four selected chatbots and retina specialists with fellowship training. Two independent retinal experts evaluated the responses using standardized Likert scales for accuracy and completeness. Readability was assessed using the Flesch Reading Ease Score and the Flesch-Kincaid Grade Level tests. Additional metrics, including word count and response generation time, were analyzed. Data were compared among groups using non-parametric statistical tests, including the Kruskal-Wallis test with Dunn's pairwise comparisons and chi-squared tests, with a two-sided p-value threshold of 0.05 for statistical significance.

Results: Retinal specialists and the Gemini chatbot produced responses with higher readability, indicating lower educational levels were needed for comprehension. In contrast, ChatGPT 4.0, ConsensusGPT, and Claude 3 delivered more detailed and accurate answers but required a higher reading level. ChatGPT 4.0 and ConsensusGPT achieved superior quality and comprehensiveness ratings compared to human experts and the other chatbots. Additionally, all AI systems generated responses significantly faster than the human specialists. Evaluators could correctly distinguish between human-generated and AI-generated responses in most cases.

Conclusions: Artificial intelligence chatbots demonstrate considerable promise for rapidly disseminating accurate medical information directly to the end-user, not only in English. However, optimizing the simplicity of their language is essential to ensure that detailed responses remain accessible to a broad audience. Future research should aim to replicate our findings with larger datasets of questions with the goal of refining these systems to balance comprehensive content with user-friendly language.

背景:由大型语言模型驱动的聊天机器人在处理医疗查询时显示出了很好的结果,从而改变了对医疗信息的访问。尽管这些聊天机器人能给出详细而准确的回答,但它们在处理真实的、未经编辑的病人问题时的表现如何,尤其是用非英语语言提问时,还不清楚。本研究旨在评估四个聊天机器人(ChatGPT 4.0、ConsensusGPT、Gemini和Claude 3)对视网膜疾病问题的回答的可读性、准确性和全面性,并将其与视网膜专家的回答进行比较。方法:在这项横断面、比较和盲法研究中,从一个流行的葡萄牙语在线视频频道中随机选择了20个关于视网膜疾病的未经编辑的问题。这些问题被提交给四个经过奖学金培训的聊天机器人和视网膜专家。两位独立的视网膜专家使用标准化的李克特量表评估反应的准确性和完整性。使用Flesch Reading Ease Score和Flesch- kincaid Grade Level测试评估可读性。还分析了其他指标,包括字数和响应生成时间。组间数据比较采用非参数统计检验,包括Kruskal-Wallis检验,Dunn’s两两比较和卡方检验,双侧p值阈值为0.05,具有统计学意义。结果:视网膜专家和双子座聊天机器人的回答可读性更高,表明理解所需的教育水平较低。相比之下,ChatGPT 4.0、ConsensusGPT和Claude 3给出了更详细和准确的答案,但对阅读水平的要求更高。与人类专家和其他聊天机器人相比,ChatGPT 4.0和ConsensusGPT取得了卓越的质量和综合评级。此外,所有人工智能系统产生的反应都比人类专家快得多。在大多数情况下,评估人员可以正确区分人工生成和人工智能生成的响应。结论:人工智能聊天机器人在直接向最终用户快速传播准确的医疗信息方面表现出相当大的前景,而不仅仅是用英语。然而,优化其语言的简单性对于确保广泛的受众仍然可以访问详细的响应是必不可少的。未来的研究应该致力于用更大的问题数据集来复制我们的发现,目标是改进这些系统,以平衡全面的内容和用户友好的语言。
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引用次数: 0
Comparison of intravitreal injection techniques with and without a speculum using eyelid retraction with a cotton-tipped applicator. 有镜与无镜玻璃体内注射技术的比较。
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-29 DOI: 10.1186/s40942-025-00739-5
Hanny Rui Qi Chen, Gabriel Costa de Andrade, Lucas Kenji Arimori, Fernando Kruglensky Lerner
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引用次数: 0
Evaluation of changes in mean choroidal thickness before and after treatment with steroids and laser photocoagulation in patients with Eales' disease. 评价Eales病患者类固醇和激光光凝治疗前后平均脉络膜厚度的变化
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-27 DOI: 10.1186/s40942-025-00731-z
Meenakshi Thakar, Obinam Muang, Paromita Dutta, Bhumika Sharma
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引用次数: 0
Recognition and treatment of polypoidal choroidal vasculopathy and age-related macular degeneration in British Columbia. 不列颠哥伦比亚省息肉样脉络膜血管病变和年龄相关性黄斑变性的识别和治疗。
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-27 DOI: 10.1186/s40942-025-00744-8
Yoomin Lee, Sidrat Rahman, Brendan K Tao, Tony Fang, Handan Akil, Daniela Ferrara, Simon Lam, Eduardo V Navajas
{"title":"Recognition and treatment of polypoidal choroidal vasculopathy and age-related macular degeneration in British Columbia.","authors":"Yoomin Lee, Sidrat Rahman, Brendan K Tao, Tony Fang, Handan Akil, Daniela Ferrara, Simon Lam, Eduardo V Navajas","doi":"10.1186/s40942-025-00744-8","DOIUrl":"10.1186/s40942-025-00744-8","url":null,"abstract":"","PeriodicalId":14289,"journal":{"name":"International Journal of Retina and Vitreous","volume":"11 1","pages":"118"},"PeriodicalIF":2.4,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12560305/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145377299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pars plana vitrectomy in progressive severe stellate non-hereditary idiopathic foveomacular retinoschisis (SNIFR): surgical outcomes and considerations for pathophysiology. 进行性严重星状非遗传性特发性中央黄斑视网膜裂(SNIFR)的玻璃体切除:手术结果和病理生理考虑。
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-24 DOI: 10.1186/s40942-025-00742-w
Omar M Moinuddin, Remo Turchetti Moraes, Beatriz Klejnberg Moraes, Eduardo Cunha de Souza, Octaviano Magalhaes Junior, Nadyr Damasceno, Hélio P Primiano Júnior, Antonio Capone, Antonio Marcelo B Casella, Tamer H Mahmoud

Background: To report the clinical course and outcomes of a surgical approach for progressive severe stellate non-hereditary idiopathic foveomacular retinoschisis (SNIFR) using pars plana vitrectomy (PPV).

Methods: Multi-center, consecutive, interventional case series. Patients with a diagnosis of SNIFR presenting with progressive loss of vision between January 1, 2017 and January 1, 2023. Evaluation of ophthalmologic findings and multimodal ocular imaging at the time of diagnosis, surgical procedure, and of visual and anatomic outcomes postoperatively. The main outcome measures evaluated include best corrected visual acuity (BCVA), central macular thickness (CMT), and findings on optical coherence tomography (OCT).

Results: Seven patients diagnosed with SNIFR were included. Median age in years at the time of diagnosis was 64 (range, 46-77). Four patients were female, and three were male. Genetic testing for mutations in retinoschisin 1 (RS1) and for other inherited conditions associated with foveomacular retinoschisis was negative. All patients demonstrated progressive and severe retinoschisis, as well as worsening vision loss and metamorphopsia when managed conservatively. PPV was performed and revealed anomalously broad and dense adherence of the posterior hyaloid in all eyes. The internal limiting membrane (ILM) was peeled in all but one case. Median BCVA at baseline measured 20/50, and declined to 20/70 at the time of surgery. Median preoperative CMT measured 561 μm, with OCT demonstrating prominent retinoschisis of the outer plexiform and outer nuclear layers. All eyes demonstrated postoperative resolution of retinoschisis and subretinal fluid, with corresponding improvements in both BCVA and subjective central visual distortion up to six months after surgery. BCVA for the entire cohort improved to a median of 20/30, and with a corresponding decrease in CMT to a median of 240 μm.

Conclusion: PPV is an effective surgical intervention resulting in anatomic resolution of retinoschisis and improved functional vision in eyes with progressive and severe SNIFR.

背景:报道一种采用玻璃体切割(PPV)治疗进行性严重星状非遗传性特发性中央黄斑视网膜裂(SNIFR)的手术方法的临床过程和结果。方法:多中心、连续、介入病例系列。在2017年1月1日至2023年1月1日期间诊断为SNIFR的患者表现为进行性视力丧失。评估诊断时的眼科表现和多模态眼成像,外科手术,以及术后的视觉和解剖结果。评估的主要结果指标包括最佳矫正视力(BCVA)、中央黄斑厚度(CMT)和光学相干断层扫描(OCT)结果。结果:纳入7例诊断为SNIFR的患者。诊断时的中位年龄为64岁(范围46-77岁)。女性4例,男性3例。视网膜裂蛋白1 (RS1)突变的基因检测和其他与中央黄斑视网膜裂相关的遗传条件均为阴性。所有患者均表现为进行性和重度视网膜裂,保守治疗时视力下降和变形恶化。经PPV检查,发现所有眼的后透明体均有异常宽而致密的粘附。除一例外,其余病例均剥离了内限制膜(ILM)。基线时的中位BCVA为20/50,手术时降至20/70。术前中位CMT测量为561 μm, OCT显示外丛状和外核层视网膜裂明显。所有的眼睛术后视网膜裂和视网膜下积液都得到了解决,BCVA和主观性中枢视觉畸变在术后6个月都得到了相应的改善。整个队列的BCVA中位数改善至20/30,CMT中位数相应降低至240 μm。结论:PPV是一种有效的手术干预,可使进行性和重度SNIFR患者视网膜裂的解剖解决和功能视力改善。
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引用次数: 0
The association between glycated hemoglobin and intraocular inflammatory factors in patients with proliferative diabetic retinopathy. 增殖性糖尿病视网膜病变患者糖化血红蛋白与眼内炎症因子的关系。
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-22 DOI: 10.1186/s40942-025-00732-y
Jun Liu, Miao Yu, Jingyu Yan, Wei Chen, Pei Zhang, Yuchen Wang, Huijin Chen, Jinping Hu
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引用次数: 0
Deep learning based retinal hard exudates quantification of optical coherence tomography. 基于深度学习的视网膜硬渗出物光学相干断层成像定量研究。
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-17 DOI: 10.1186/s40942-025-00715-z
Chang Ki Yoon, Hyung Woo Lee, Hyun Woong Kim, Jung Lim Kim

Purpose: To develop a deep learning (DL) model for segmenting retinal hard exudates (HE) from optical coherence tomography (OCT) scans.

Methods: A modified U-Net architecture was trained on manually segmented OCT B-scans of retinal HE. The training set included 1,811 OCT scans from 15 patients with diabetic retinopathy or branch retinal vein occlusion. The model was evaluated using Dice coefficient and accuracy in idependant test set, and its HE area and volume predictions were compared to manually measured HE areas from a previous clinical study. Additionally, a 2D projected image was generated from the 3D structure of the predicted HE.

Results: The DL model achieved a Dice coefficient of 0.721 and an accuracy of 99.9% on the test set. There was a moderate correlation between model-predicted HE volume and area and manually measured HE area from fundus photographs (R = 0.589 and 0.618, respectively; both P < 0.001). The projected 2D image generated from the model accurately visualized HE details, demonstrating better structural information compared to fundus photographs.

Conclusion: The proposed DL model enables accurate segmentation of retinal HE, offering volumetric data with both horizontal and vertical structural information, which enhances visualization and quantification compared to traditional 2D imaging.

目的:建立从光学相干断层扫描(OCT)中分割视网膜硬渗出物(HE)的深度学习(DL)模型。方法:在人工分割的视网膜HE OCT b扫描上训练改进的U-Net结构。训练集包括来自15例糖尿病视网膜病变或视网膜分支静脉闭塞患者的1811张OCT扫描。使用Dice系数和独立测试集的准确性对模型进行评估,并将其HE面积和体积预测与先前临床研究中手动测量的HE面积进行比较。此外,根据预测HE的三维结构生成二维投影图像。结果:DL模型在测试集上的Dice系数为0.721,准确率为99.9%。模型预测的HE体积和面积与眼底照片中人工测量的HE面积存在中等相关性(R = 0.589和0.618)。结论:所提出的DL模型能够准确分割视网膜HE,提供具有水平和垂直结构信息的体积数据,与传统的二维成像相比,增强了可视化和量化。
{"title":"Deep learning based retinal hard exudates quantification of optical coherence tomography.","authors":"Chang Ki Yoon, Hyung Woo Lee, Hyun Woong Kim, Jung Lim Kim","doi":"10.1186/s40942-025-00715-z","DOIUrl":"10.1186/s40942-025-00715-z","url":null,"abstract":"<p><strong>Purpose: </strong>To develop a deep learning (DL) model for segmenting retinal hard exudates (HE) from optical coherence tomography (OCT) scans.</p><p><strong>Methods: </strong>A modified U-Net architecture was trained on manually segmented OCT B-scans of retinal HE. The training set included 1,811 OCT scans from 15 patients with diabetic retinopathy or branch retinal vein occlusion. The model was evaluated using Dice coefficient and accuracy in idependant test set, and its HE area and volume predictions were compared to manually measured HE areas from a previous clinical study. Additionally, a 2D projected image was generated from the 3D structure of the predicted HE.</p><p><strong>Results: </strong>The DL model achieved a Dice coefficient of 0.721 and an accuracy of 99.9% on the test set. There was a moderate correlation between model-predicted HE volume and area and manually measured HE area from fundus photographs (R = 0.589 and 0.618, respectively; both P < 0.001). The projected 2D image generated from the model accurately visualized HE details, demonstrating better structural information compared to fundus photographs.</p><p><strong>Conclusion: </strong>The proposed DL model enables accurate segmentation of retinal HE, offering volumetric data with both horizontal and vertical structural information, which enhances visualization and quantification compared to traditional 2D imaging.</p>","PeriodicalId":14289,"journal":{"name":"International Journal of Retina and Vitreous","volume":"11 1","pages":"114"},"PeriodicalIF":2.4,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12535103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Retinoblastoma survival trend: a 30-year analysis from a referral single center in Iran. 视网膜母细胞瘤的生存趋势:伊朗一个转诊中心的30年分析。
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-17 DOI: 10.1186/s40942-025-00702-4
Masood Naseripour, Ali Aghajani, Hengameh Kasraei, Reza Mirshahi, Ahad Sedaghat, Parya Abdolalizadeh, Mohammadreza Fazel, Samira Chaibakhsh

Background: The treatment of retinoblastoma (Rb) has undergone significant improvements over the last century. This study aims to assess the trend of enucleation and mortality in retinoblastoma patients during the last 3 decades.

Methods: The study utilized data from the referral center for ocular oncology in Rasool Akram Hospital, Tehran, Iran. It included all patients diagnosed with Rb from August 1991 to December 2018. The study investigated the trend of enucleation and mortality during three-time intervals: before 2001 (T1), during 2001-2007 (T2), and 2008-2018 (T3). Additionally, it assessed the trend of enucleation and mortality based on laterality, age and presentation of Rb (strabismus and leukocoria).

Results: The incidence of enucleation decreased significantly from T1 to T3 (74-41%) during the study period (p-value < 0.001). Pairwise comparisons between T1 and T3 revealed a significant decrease in the incidence of enucleation (74% vs. 41%, p-value < 0.001). The study also demonstrated a significant reduction in the incidence of enucleation when comparing T2 to T3 (60% vs. 41%, p-value < 0.001). Comparing time intervals, there was no significant difference between T2 and T3 regarding the incidence of death (4% vs. 1%), but both intervals had statistically significant lower death rates compared with T1 (26%, both p-values < 0.001).

Conclusion: This study revealed that Introduction of systemic chemotherapy as mainstay of Rb treatment, has led to a significant reduction in mortality and morbidity rates. The incorporation of targeted chemotherapy has further decreased the need for enucleation, but it has not substantially impacted the mortality rate. Unfortunately, in spite of reduction trend in enucleation, systemic and targeted chemotherapy was unable to save the affected globe in nearly half of the patients, even when the malignancy was diagnosed in the earlier stages.

背景:视网膜母细胞瘤(Rb)的治疗在上个世纪有了显著的进步。本研究旨在评估近30年来视网膜母细胞瘤患者的去核趋势和死亡率。方法:本研究利用了伊朗德黑兰Rasool Akram医院眼科肿瘤转诊中心的数据。它包括1991年8月至2018年12月诊断为Rb的所有患者。本研究调查了2001年以前(T1)、2001-2007年(T2)和2008-2018年(T3)三个时间间隔的去核和死亡率趋势。此外,它还根据侧视、年龄和Rb(斜视和白斑)的表现评估了眼球摘除术的趋势和死亡率。结果:在研究期间,T1至T3期间,去核发生率明显下降(74-41%)(p值)。结论:本研究表明,采用全身化疗作为Rb治疗的主要手段,可显著降低死亡率和发病率。靶向化疗的结合进一步减少了去核的需要,但并没有实质性地影响死亡率。不幸的是,尽管去核率有减少的趋势,但在近一半的患者中,即使在早期诊断出恶性肿瘤,全身和靶向化疗也无法挽救受影响的球体。
{"title":"Retinoblastoma survival trend: a 30-year analysis from a referral single center in Iran.","authors":"Masood Naseripour, Ali Aghajani, Hengameh Kasraei, Reza Mirshahi, Ahad Sedaghat, Parya Abdolalizadeh, Mohammadreza Fazel, Samira Chaibakhsh","doi":"10.1186/s40942-025-00702-4","DOIUrl":"10.1186/s40942-025-00702-4","url":null,"abstract":"<p><strong>Background: </strong>The treatment of retinoblastoma (Rb) has undergone significant improvements over the last century. This study aims to assess the trend of enucleation and mortality in retinoblastoma patients during the last 3 decades.</p><p><strong>Methods: </strong>The study utilized data from the referral center for ocular oncology in Rasool Akram Hospital, Tehran, Iran. It included all patients diagnosed with Rb from August 1991 to December 2018. The study investigated the trend of enucleation and mortality during three-time intervals: before 2001 (T1), during 2001-2007 (T2), and 2008-2018 (T3). Additionally, it assessed the trend of enucleation and mortality based on laterality, age and presentation of Rb (strabismus and leukocoria).</p><p><strong>Results: </strong>The incidence of enucleation decreased significantly from T1 to T3 (74-41%) during the study period (p-value < 0.001). Pairwise comparisons between T1 and T3 revealed a significant decrease in the incidence of enucleation (74% vs. 41%, p-value < 0.001). The study also demonstrated a significant reduction in the incidence of enucleation when comparing T2 to T3 (60% vs. 41%, p-value < 0.001). Comparing time intervals, there was no significant difference between T2 and T3 regarding the incidence of death (4% vs. 1%), but both intervals had statistically significant lower death rates compared with T1 (26%, both p-values < 0.001).</p><p><strong>Conclusion: </strong>This study revealed that Introduction of systemic chemotherapy as mainstay of Rb treatment, has led to a significant reduction in mortality and morbidity rates. The incorporation of targeted chemotherapy has further decreased the need for enucleation, but it has not substantially impacted the mortality rate. Unfortunately, in spite of reduction trend in enucleation, systemic and targeted chemotherapy was unable to save the affected globe in nearly half of the patients, even when the malignancy was diagnosed in the earlier stages.</p>","PeriodicalId":14289,"journal":{"name":"International Journal of Retina and Vitreous","volume":"11 1","pages":"113"},"PeriodicalIF":2.4,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12535100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recent advances in the study of Conbercept for diabetic macular edema. Conbercept治疗糖尿病黄斑水肿的研究进展。
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-16 DOI: 10.1186/s40942-025-00738-6
Zhe Liu, Xin Zheng, Hong Li

Diabetic macular edema (DME) is one of the leading causes of blindness in diabetic retinopathy. As a domestically developed fusion protein drug in China, the anti-vascular endothelial growth factor (VEGF) agent Conbercept has demonstrated significant efficacy in the treatment of DME in recent years. This systematic review explores the mechanism of action and latest research advancements of Conbercept in DME treatment, integrating clinical trial data and comparisons with other anti-VEGF therapies. It further discusses existing limitations in current research and proposes future research directions.

糖尿病性黄斑水肿(DME)是糖尿病视网膜病变致盲的主要原因之一。抗血管内皮生长因子(VEGF)药物Conbercept作为国内自主研发的融合蛋白药物,近年来在治疗二甲醚中表现出显著的疗效。本系统综述结合临床试验数据及与其他抗vegf疗法的比较,探讨conberconcept在DME治疗中的作用机制及最新研究进展。进一步讨论了目前研究存在的局限性,并提出了未来的研究方向。
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引用次数: 0
RNA dysfunction in age-related macular degeneration: the role of U1 snRNP complex and neurodegenerative diseases. 年龄相关性黄斑变性中的RNA功能障碍:U1 snRNP复合物与神经退行性疾病的作用
IF 2.4 Q2 OPHTHALMOLOGY Pub Date : 2025-10-16 DOI: 10.1186/s40942-025-00736-8
Juliana M Bottos, Ericks S Soares, Camila G M Zimmer, Vanessa V C Sinatti, Caio B Q S Leal, Juliana M F Sallum

Background: Age-related macular degeneration (AMD), a leading cause of vision loss in elderly individuals, is a multifactorial disease driven by genetic, environmental, and cellular aging processes. Emerging evidence highlights the critical role of ribonucleic acid (RNA) splicing dysfunction in AMD pathogenesis, with a focus on the U1 small nuclear ribonucleoprotein (U1 snRNP) complex, a key spliceosome component. U1 snRNPs ensure the fidelity of RNA cotranscription and pre-mRNA splicing initiation, and their dysfunction has been implicated in neurodegenerative disorders and other age-related diseases.

Main body: This narrative review explores the impact of U1 snRNP dysregulation on retinal cells, focusing on its role in transcriptomic instability, impaired protein homeostasis, cellular stress, impaired autophagy, and inflammation, which are important features of AMD pathogenesis. Finally, we propose that targeting U1 snRNP dysfunction could provide a novel therapeutic approach to slow, prevent, or restore retinal degeneration, offering insights into broader implications for age-related diseases.

Short conclusion: Understanding the molecular mechanisms underlying U1 snRNP dynamics in retinal health and degeneration is essential for developing innovative and effective treatments for AMD, which may provide ways to delay or reverse the effects of aging and associated diseases.

背景:年龄相关性黄斑变性(AMD)是老年人视力丧失的主要原因,是一种由遗传、环境和细胞衰老过程驱动的多因素疾病。新出现的证据强调了核糖核酸(RNA)剪接功能障碍在AMD发病机制中的关键作用,重点关注了剪接体的关键成分U1小核核糖核蛋白(U1 snRNP)复合物。U1 snRNPs确保RNA共转录和mrna前剪接起始的保真度,其功能障碍与神经退行性疾病和其他年龄相关疾病有关。正文:本文探讨了U1 snRNP失调对视网膜细胞的影响,重点探讨了其在AMD发病机制的重要特征转录组不稳定、蛋白稳态受损、细胞应激、自噬受损和炎症中的作用。最后,我们提出针对U1 snRNP功能障碍可以提供一种新的治疗方法来减缓、预防或恢复视网膜变性,为年龄相关疾病提供更广泛的见解。总结:了解U1 snRNP动态在视网膜健康和变性中的分子机制对于开发创新和有效的AMD治疗方法至关重要,这可能为延缓或逆转衰老和相关疾病的影响提供方法。
{"title":"RNA dysfunction in age-related macular degeneration: the role of U1 snRNP complex and neurodegenerative diseases.","authors":"Juliana M Bottos, Ericks S Soares, Camila G M Zimmer, Vanessa V C Sinatti, Caio B Q S Leal, Juliana M F Sallum","doi":"10.1186/s40942-025-00736-8","DOIUrl":"10.1186/s40942-025-00736-8","url":null,"abstract":"<p><strong>Background: </strong>Age-related macular degeneration (AMD), a leading cause of vision loss in elderly individuals, is a multifactorial disease driven by genetic, environmental, and cellular aging processes. Emerging evidence highlights the critical role of ribonucleic acid (RNA) splicing dysfunction in AMD pathogenesis, with a focus on the U1 small nuclear ribonucleoprotein (U1 snRNP) complex, a key spliceosome component. U1 snRNPs ensure the fidelity of RNA cotranscription and pre-mRNA splicing initiation, and their dysfunction has been implicated in neurodegenerative disorders and other age-related diseases.</p><p><strong>Main body: </strong>This narrative review explores the impact of U1 snRNP dysregulation on retinal cells, focusing on its role in transcriptomic instability, impaired protein homeostasis, cellular stress, impaired autophagy, and inflammation, which are important features of AMD pathogenesis. Finally, we propose that targeting U1 snRNP dysfunction could provide a novel therapeutic approach to slow, prevent, or restore retinal degeneration, offering insights into broader implications for age-related diseases.</p><p><strong>Short conclusion: </strong>Understanding the molecular mechanisms underlying U1 snRNP dynamics in retinal health and degeneration is essential for developing innovative and effective treatments for AMD, which may provide ways to delay or reverse the effects of aging and associated diseases.</p>","PeriodicalId":14289,"journal":{"name":"International Journal of Retina and Vitreous","volume":"11 1","pages":"110"},"PeriodicalIF":2.4,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12532908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145307884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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International Journal of Retina and Vitreous
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