Advances in ophthalmology practice and research最新文献_第2页

A systematic review of vision and vision-language foundation models in ophthalmology 眼科学视觉和视觉语言基础模型的系统综述

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-10-24 DOI: 10.1016/j.aopr.2025.10.004

Kai Jin , Tao Yu , Gui-shuang Ying , Zongyuan Ge , Kelvin Zhenghao Li , Yukun Zhou , Danli Shi , Meng Wang , Polat Goktas , Andrzej Grzybowski

Background

Vision and vision-language foundation models, a subset of advanced artificial intelligence (AI) frameworks, have shown transformative potential in various medical fields. In ophthalmology, these models, particularly large language models and vision-based models, have demonstrated great potential to improve diagnostic accuracy, enhance treatment planning, and streamline clinical workflows. However, their deployment in ophthalmology has faced several challenges, particularly regarding generalizability and integration into clinical practice. This systematic review aims to summarize the current evidence on the use of vision and vision-language foundation models in ophthalmology, identifying key applications, outcomes, and challenges.

Main text

A comprehensive search on PubMed, Web of Science, Scopus, and Google Scholar was conducted to identify studies published between January 2020 and July 2025. Studies were included if they developed or applied foundation models, such as vision-based models and large language models, to clinically relevant ophthalmic applications. A total of 10 studies met the inclusion criteria, covering areas such as retinal diseases, glaucoma, and ocular surface tumor. The primary outcome measures are model performance metrics, integration into clinical workflows, and the clinical utility of the models. Additionally, the review explored the limitations of foundation models, such as the reliance on large datasets, computational resources, and interpretability challenges.

The majority of studies demonstrated that foundation models could achieve high diagnostic accuracy, with several reports indicating excellent performance comparable to or exceeding those of experienced clinicians. Foundation models achieved high accuracy rates up to 95% for diagnosing retinal diseases, and similar performances for detecting glaucoma progression. Despite promising results, concerns about algorithmic bias, overfitting, and the need for diverse training data were common. High computational demands, EHR compatibility, and the need for clinician validation also posed challenges. Additionally, model interpretability issues hindered clinician trust and adoption.

Conclusions

Vision and vision-language foundation models in ophthalmology show significant potential for advancing diagnostic accuracy and treatment strategies, particularly in retinal diseases, glaucoma, and ocular oncology. However, challenges such as data quality, transparency, and ethical considerations must be addressed. Future research should focus on refining model performance, improving interpretability and generalizability, and exploring strategies for integrating these models into routine clinical practice to maximize their impact in clinical ophthalmology.

视觉和视觉语言基础模型是先进人工智能（AI）框架的一个子集，在各个医学领域显示出变革潜力。在眼科领域，这些模型，特别是大型语言模型和基于视觉的模型，在提高诊断准确性、加强治疗计划和简化临床工作流程方面显示出巨大的潜力。然而，他们在眼科的部署面临着一些挑战，特别是关于推广和整合到临床实践。本系统综述旨在总结目前在眼科中使用视觉和视觉语言基础模型的证据，确定关键应用、结果和挑战。本文在PubMed、Web of Science、Scopus和b谷歌Scholar上进行了综合检索，以确定2020年1月至2025年7月之间发表的研究。如果研究开发或应用基础模型，如基于视觉的模型和大型语言模型，用于临床相关的眼科应用，则纳入研究。共有10项研究符合纳入标准，涵盖了视网膜疾病、青光眼、眼表肿瘤等领域。主要的结果测量是模型的性能指标、与临床工作流程的集成以及模型的临床效用。此外，本文还探讨了基础模型的局限性，如对大型数据集的依赖、计算资源和可解释性挑战。大多数研究表明，基础模型可以达到很高的诊断准确性，有几份报告表明，基础模型的表现与经验丰富的临床医生相当或超过。基础模型在诊断视网膜疾病方面的准确率高达95%，在检测青光眼进展方面也有类似的表现。尽管结果令人鼓舞，但对算法偏差、过拟合和对多样化训练数据的需求的担忧是常见的。高计算需求、EHR兼容性以及对临床医生验证的需求也构成了挑战。此外，模型的可解释性问题阻碍了临床医生的信任和采用。结论眼科视觉和视觉语言基础模型在提高诊断准确性和治疗策略方面具有重要潜力，特别是在视网膜疾病、青光眼和眼部肿瘤方面。然而，必须解决数据质量、透明度和道德考虑等挑战。未来的研究应侧重于完善模型性能，提高可解释性和泛化性，并探索将这些模型融入常规临床实践的策略，以最大限度地发挥其在眼科临床中的作用。

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引用次数: 0

Efficacy and safety of ultrasound cycloplasty as the first treatment in glaucoma for eyes with functional vision: A 1-year prospective study 超声睫状体成形术作为功能性视力青光眼的首选治疗方法的有效性和安全性：一项为期1年的前瞻性研究

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-10-24 DOI: 10.1016/j.aopr.2025.10.001

Dingqiao Wang , Zhihong Huang , Yanlin Li , Shaoyang Zheng , Ni Guo , Huanyang Shi , Lin Jin , Yixiu Lin , Jian Ge , Mingkai Lin , Chengguo Zuo

Objective

Ultrasound cycloplasty (UCP) is a non-invasive treatment traditionally used for advanced glaucoma. However, its potential as the first surgical option for moderate glaucoma with functional vision has not been thoroughly investigated. This study aimed to assess the effectiveness and safety of UCP as the initial surgery for glaucoma with residual visual function.

Methods

This prospective study included 117 glaucoma patients (63 males, 54 females; mean age 48.3 ± 17.2 years) with various glaucoma subtypes and best-corrected visual acuity (BCVA) better than 1.30 logMAR who underwent UCP as their first treatment. The primary outcomes were the surgical success rates at 12 months for both qualified and complete success. Qualified success was defined as a ≥20% reduction in intraocular pressure (IOP) from baseline, IOP between 6 and 21 mmHg, and no additional glaucoma surgery, achieved with or without anti-glaucoma medication. Complete success was defined by the same criteria, but achieved without any anti-glaucoma medications. Secondary outcomes included mean IOP, BCVA, and postoperative complications.

Results

The qualified success rate of UCP as the first treatment was 71.8% at 12 months, with a complete success rate (medication-free) of 27.4%. Subgroup analysis revealed that PACG had the highest qualified success rate (84.8%), followed by POAG (73.0%) and NVG (66.7%). Patients with ≤0.30 logMAR achieved the highest rate (80.0%), followed by those with 0.30-0.50 logMAR (75.0%), 0.50-1.00 logMAR (66.7%), and 1.00-1.30 logMAR (63.6%). The overall mean BCVA showed minimal change from 0.62 ± 0.42 logMAR at baseline to 0.63 ± 0.43 logMAR at 1 year. Patients experienced initial visual acuity decline in the early postoperative period, which gradually recovered after 1 week. Only 2.6% (3/117) of patients experienced a clinically significant visual decline of more than 2 lines at 12-month follow-up. No severe complications were observed.

Conclusions

UCP can be an effective and safe option as the first surgical treatment for glaucoma patients with visual function. UCP significantly reduces IOP over 12 months without causing significant visual acuity decline or severe complications.

目的超声青光眼成形术（UCP）是治疗晚期青光眼的一种非侵入性治疗方法。然而，其作为具有功能视力的中度青光眼的第一手术选择的潜力尚未得到充分的研究。本研究旨在评估UCP作为青光眼残视初始手术的有效性和安全性。方法前瞻性研究纳入117例青光眼患者，其中男性63例，女性54例，平均年龄48.3±17.2岁，不同青光眼亚型，最佳矫正视力（BCVA）优于1.30 logMAR，首次行UCP治疗。主要结果是12个月的手术成功率，合格和完全成功。合格的成功定义为眼内压（IOP）较基线降低≥20%，IOP在6 - 21 mmHg之间，没有额外的青光眼手术，使用或不使用抗青光眼药物。完全成功的定义是相同的标准，但没有任何抗青光眼药物。次要结局包括平均IOP、BCVA和术后并发症。结果首次应用UCP治疗12个月的成功率为71.8%，完全成功率（无药）为27.4%。亚组分析显示PACG组的成功率最高（84.8%），其次是POAG（73.0%）和NVG（66.7%）。logMAR≤0.30的患者发生率最高（80.0%），其次为0.30 ~ 0.50 logMAR（75.0%）、0.50 ~ 1.00 logMAR（66.7%）和1.00 ~ 1.30 logMAR（63.6%）。总体平均BCVA从基线时的0.62±0.42 logMAR到1年后的0.63±0.43 logMAR变化最小。患者术后早期出现初期视力下降，术后1周后逐渐恢复。在12个月的随访中，只有2.6%（3/117）的患者出现了超过2线的临床显著视力下降。无严重并发症。结论视功能青光眼的首选手术治疗是一种安全有效的选择。UCP可在12个月内显著降低IOP，而不会引起明显的视力下降或严重的并发症。

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引用次数: 0

Biomechanical contributions to cataract development and implications for treatment strategies 生物力学对白内障发展和治疗策略的影响

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-09-17 DOI: 10.1016/j.aopr.2025.09.004

Yingying Zheng , Wenxin Yang , Jiarui Guo, Silong Chen, Zicai Pan, Yibo Yu

Background

Cataracts remain the leading cause of blindness worldwide, primarily due to the progressive opacification of the crystalline lens. While surgical removal is the only definitive treatment, no pharmacological therapies have proven effective in reversing or significantly delaying disease progression.

Main text

Alterations in the biomechanical properties of the lens and their role in cataract formation. Biomechanics plays a crucial role in maintaining the normal structure and function of living organisms. As a mechanical material, the lens is subject to long-term regulation by the ciliary body, with its mechanical deformability being closely linked to the function of visual accommodation. Additionally, with age, the mechanical properties of the lens and its components undergo gradual changes, resulting in increased stiffness, reduced elasticity, and impaired accommodative capacity. These changes highlight the potential role of lens biomechanics in the onset and progression of cataracts. Understanding the patterns of biomechanical alterations during cataract formation may improve early diagnosis, enable better prediction of disease progression, optimize surgical approaches, and contribute to the development of non-surgical interventions, including pharmacological therapies and novel intraocular lens designs.

Conclusions

Focusing on biomechanical changes during the onset and progression of cataracts is essential for the development of new diagnostic and therapeutic strategies. This paper provides an overview of the anatomical structure of the lens, reviews existing literature on age-related biomechanical changes in the lens and their direct link to cataract pathogenesis, and discusses future research directions and applications of biomechanics in cataract research.

白内障仍然是世界范围内致盲的主要原因，主要是由于晶状体的进行性混浊。虽然手术切除是唯一确定的治疗方法，但没有药物治疗被证明在逆转或显着延缓疾病进展方面有效。晶状体生物力学特性的变化及其在白内障形成中的作用。生物力学在维持生物体的正常结构和功能方面起着至关重要的作用。晶状体作为一种机械材料，长期受到睫状体的调节，其机械变形能力与视觉调节功能密切相关。此外，随着年龄的增长，晶状体及其组成部分的机械性能会逐渐发生变化，导致硬度增加，弹性降低，调节能力受损。这些变化突出了晶状体生物力学在白内障发生和发展中的潜在作用。了解白内障形成过程中生物力学改变的模式可以改善早期诊断，更好地预测疾病进展，优化手术方法，并有助于非手术干预措施的发展，包括药物治疗和新型人工晶状体设计。结论关注白内障发生和发展过程中的生物力学变化对制定新的诊断和治疗策略至关重要。本文综述了晶状体的解剖结构，综述了已有的与年龄相关的晶状体生物力学变化及其与白内障发病的直接联系的文献，并讨论了生物力学在白内障研究中的未来研究方向和应用。

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引用次数: 0

Intraocular lens tilt and decentration and optical quality after primary intraocular lens implantation in pediatric cataract patients 儿童白内障人工晶状体植入术后人工晶状体倾斜、脱位与光学质量的关系

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-09-17 DOI: 10.1016/j.aopr.2025.09.003

Hongzhe Li , Jiaying Cen , Wentao Tong , Fuman Yang , Ruiwen Zhang , Dandan Wang , Pingjun Chang , Yune Zhao

Purposes

To investigate the characteristics and associated factors of intraocular lens (IOL) tilt and decentration in pediatric cataract patients undergoing primary IOL implantation and to explore their impact on postoperative optical quality.

Methods

Children who underwent cataract extraction with posterior capsulotomy, primary anterior vitrectomy, and in-the-bag IOL implantation over 6 months were enrolled. Patient data and ocular biometric parameters were retrieved from electronic files. Retroillumination images were obtained to evaluate capsular outcomes. IOL tilt and decentration were assessed using the swept-source optical coherence tomography, and wavefront aberrations were measured with the OPD-Scan III.

Results

A total of 125 eyes from 125 patients with a mean age at surgery of 4.74 ± 1.49 years were included. The IOLs demonstrated a mean tilt of 6.02 ± 1.97° toward the temporal direction and a mean decentration of 0.28 ± 0.13 mm toward the superior-temporal direction. Multivariate analysis revealed that shorter axial length (AL; P = 0.009) and significant cortical proliferation (P = 0.021) were associated with greater IOL tilt. In addition, smaller corneal diameter (CD; P = 0.008) and incomplete capsulorhexis-IOL overlap (P = 0.022) were associated with larger IOL decentration. Patients with IOL tilt ≥ 7° and decentration ≥ 0.40 mm exhibited higher internal total higher-order aberrations (tHOA) and internal astigmatism, both of which were positively correlated with IOL misalignment (all P < 0.05)

Conclusions

Shorter AL, smaller CD, significant cortical proliferation, and incomplete capsulorhexis-IOL overlap contributed to greater IOL misalignment in pediatric cataract patients with primary in-the-bag IOL implantation, which may compromise postoperative optical quality by increasing internal tHOA and astigmatism.

目的探讨小儿白内障人工晶状体植入术患者人工晶状体倾斜、脱位的特点及相关因素，探讨其对术后光学质量的影响。方法对6个月以上行白内障摘出联合后囊膜切除术、初级前晶状体切除术和人工晶状体植入术的儿童进行研究。从电子文件中检索患者数据和眼部生物特征参数。获得逆行照明图像以评估荚膜的预后。使用扫描源光学相干断层扫描评估IOL的倾斜和分散，使用OPD-Scan III测量波前像差。结果125例患者共125只眼，平均手术年龄4.74±1.49岁。人工晶状体向颞部方向平均倾斜6.02±1.97°，向颞上方向平均偏移0.28±0.13 mm。多因素分析显示，较短的眼轴长度（AL; P = 0.009）和显著的皮质增生（P = 0.021）与较大的IOL倾斜相关。此外，较小的角膜直径（CD; P = 0.008）和不完全的撕囊-人工晶状体重叠（P = 0.022）与较大的人工晶状体分散相关。IOL倾斜≥7°、离体≥0.40 mm的患者，其内部总高阶像差（tHOA）和内部散光较高，两者与人工晶状体失位呈显著正相关（P < 0.05）。结论人工晶状体短、CD小、皮质增生明显、剥囊-人工晶状体重叠不全是导致原发性袋内人工晶状体失位的主要原因。这可能会增加内部tHOA和散光，从而影响术后的光学质量。

{"title":"Intraocular lens tilt and decentration and optical quality after primary intraocular lens implantation in pediatric cataract patients","authors":"Hongzhe Li , Jiaying Cen , Wentao Tong , Fuman Yang , Ruiwen Zhang , Dandan Wang , Pingjun Chang , Yune Zhao","doi":"10.1016/j.aopr.2025.09.003","DOIUrl":"10.1016/j.aopr.2025.09.003","url":null,"abstract":"<div><h3>Purposes</h3><div>To investigate the characteristics and associated factors of intraocular lens (IOL) tilt and decentration in pediatric cataract patients undergoing primary IOL implantation and to explore their impact on postoperative optical quality.</div></div><div><h3>Methods</h3><div>Children who underwent cataract extraction with posterior capsulotomy, primary anterior vitrectomy, and in-the-bag IOL implantation over 6 months were enrolled. Patient data and ocular biometric parameters were retrieved from electronic files. Retroillumination images were obtained to evaluate capsular outcomes. IOL tilt and decentration were assessed using the swept-source optical coherence tomography, and wavefront aberrations were measured with the OPD-Scan III.</div></div><div><h3>Results</h3><div>A total of 125 eyes from 125 patients with a mean age at surgery of 4.74 ± 1.49 years were included. The IOLs demonstrated a mean tilt of 6.02 ± 1.97° toward the temporal direction and a mean decentration of 0.28 ± 0.13 mm toward the superior-temporal direction. Multivariate analysis revealed that shorter axial length (AL; <em>P</em> = 0.009) and significant cortical proliferation (<em>P</em> = 0.021) were associated with greater IOL tilt. In addition, smaller corneal diameter (CD; <em>P</em> = 0.008) and incomplete capsulorhexis-IOL overlap (<em>P</em> = 0.022) were associated with larger IOL decentration. Patients with IOL tilt ≥ 7° and decentration ≥ 0.40 mm exhibited higher internal total higher-order aberrations (tHOA) and internal astigmatism, both of which were positively correlated with IOL misalignment (all <em>P</em> < 0.05)</div></div><div><h3>Conclusions</h3><div>Shorter AL, smaller CD, significant cortical proliferation, and incomplete capsulorhexis-IOL overlap contributed to greater IOL misalignment in pediatric cataract patients with primary in-the-bag IOL implantation, which may compromise postoperative optical quality by increasing internal tHOA and astigmatism.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 4","pages":"Pages 285-292"},"PeriodicalIF":3.4,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145265469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Functional characterization of LSM12 as a driver in uveal melanoma oncogenesis LSM12在葡萄膜黑色素瘤肿瘤发生中的功能特征

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-09-10 DOI: 10.1016/j.aopr.2025.09.001

Junjie Tang , Fengyu Sun , Yi Ren , Liling Chen , Yang Gao , Jinmiao Li , Yaoming Liu , Chao Cheng , Ping Zhang , Shuxia Chen , Siming Ai , Yuxiang Mao , Shicai Su , Rong Lu

Objective

This study aimed to investigate the role of LSM12 in uveal melanoma (UM) oncogenesis and progression, examining its potential as both a prognostic biomarker and therapeutic target.

Methods

LSM12 expression was analyzed in relation to RNA modification genes and tumor stemness in UM. UM cell lines were subjected to LSM12 knockdown using siRNA, followed by cell viability and migration assays. The therapeutic potential of targeting LSM12 was evaluated using a subcutaneous xenograft model. Additionally, the relationship between LSM12 and the PI3K/Akt/mTOR pathway was explored.

Results

LSM12 expression levels were significantly elevated in UM patients, correlating strongly with poor prognosis. Positive correlations were observed between LSM12 expression and multiple genes associated with RNA methylation modifications and cancer stem cell characteristics. Knockdown of LSM12 effectively disrupted UM cell viability and migration in vitro and inhibited OCM1 xenograft growth in vivo. Additionally, LSM12 knockdown resulted in notable inhibition of the PI3K/Akt/mTOR pathway both in vitro and in vivo.

Conclusions

Elevated LSM12 expression correlates with poor prognosis in UM and critically promotes oncogenic processes, including tumor cell viability, migration, and tumorigenesis.

目的本研究旨在探讨LSM12在葡萄膜黑色素瘤（UM）肿瘤发生和进展中的作用，研究其作为预后生物标志物和治疗靶点的潜力。方法分析slsm12在UM中表达与RNA修饰基因和肿瘤干性的关系。使用siRNA敲除UM细胞系的LSM12，然后进行细胞活力和迁移试验。使用皮下异种移植模型评估靶向LSM12的治疗潜力。此外，我们还探讨了LSM12与PI3K/Akt/mTOR通路的关系。结果slsm12在UM患者中表达水平显著升高，与预后不良密切相关。LSM12的表达与RNA甲基化修饰和癌症干细胞特征相关的多个基因呈正相关。LSM12的敲低有效地破坏了UM细胞的体外活力和迁移，并抑制了OCM1异种移植物的体内生长。此外，LSM12敲低导致PI3K/Akt/mTOR通路在体内和体外均受到显著抑制。结论LSM12表达升高与UM的不良预后相关，并在很大程度上促进了肿瘤发生过程，包括肿瘤细胞活力、迁移和肿瘤发生。

{"title":"Functional characterization of LSM12 as a driver in uveal melanoma oncogenesis","authors":"Junjie Tang , Fengyu Sun , Yi Ren , Liling Chen , Yang Gao , Jinmiao Li , Yaoming Liu , Chao Cheng , Ping Zhang , Shuxia Chen , Siming Ai , Yuxiang Mao , Shicai Su , Rong Lu","doi":"10.1016/j.aopr.2025.09.001","DOIUrl":"10.1016/j.aopr.2025.09.001","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to investigate the role of LSM12 in uveal melanoma (UM) oncogenesis and progression, examining its potential as both a prognostic biomarker and therapeutic target.</div></div><div><h3>Methods</h3><div>LSM12 expression was analyzed in relation to RNA modification genes and tumor stemness in UM. UM cell lines were subjected to LSM12 knockdown using siRNA, followed by cell viability and migration assays. The therapeutic potential of targeting LSM12 was evaluated using a subcutaneous xenograft model. Additionally, the relationship between LSM12 and the PI3K/Akt/mTOR pathway was explored.</div></div><div><h3>Results</h3><div>LSM12 expression levels were significantly elevated in UM patients, correlating strongly with poor prognosis. Positive correlations were observed between LSM12 expression and multiple genes associated with RNA methylation modifications and cancer stem cell characteristics. Knockdown of LSM12 effectively disrupted UM cell viability and migration in vitro and inhibited OCM1 xenograft growth in vivo. Additionally, LSM12 knockdown resulted in notable inhibition of the PI3K/Akt/mTOR pathway both in vitro and in vivo.</div></div><div><h3>Conclusions</h3><div>Elevated LSM12 expression correlates with poor prognosis in UM and critically promotes oncogenic processes, including tumor cell viability, migration, and tumorigenesis.</div></div>","PeriodicalId":72103,"journal":{"name":"Advances in ophthalmology practice and research","volume":"5 4","pages":"Pages 268-277"},"PeriodicalIF":3.4,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145158316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring rare mitochondrial DNA in Leber hereditary optic neuropathy Leber遗传性视神经病变罕见线粒体DNA的研究

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-08-22 DOI: 10.1016/j.aopr.2025.08.001

Shanshan Cao , Yong Liu , Mingming Sun , Yuan Zhang , Yonghua Sun , Quangang Xu , Shihui Wei , Huanfen Zhou

Background

Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder primarily caused by mutations in MT-ND1, MT-ND4, and MT-ND6, leading to retinal ganglion cell degeneration and severe vision loss. While 90%–95% of cases involve three common mutations (m.11778G > A, m.3460G > A, m.14484T > C), the genetic and clinical profiles of rare mutations remain poorly characterized, contributing to diagnostic challenges.

Methods

This cohort study analyzed 26 genetically confirmed LHON patients harboring rare mitochondrial DNA (mtDNA) mutations. Patients underwent best-corrected visual acuity (BCVA), optical coherence tomography (OCT) measurements (peripapillary retinal nerve fiber layer [pRNFL] and macular ganglion cell layer [GCL] thickness), and neuroimaging findings. Prognostic outcomes were compared between pediatric (≤16 years) and adult (>16 years) subgroups.

Results

The cohort (male:female = 4.2:1) exhibited a median onset age of 17 years (range:4–42), with 30.77% unilateral involvement. Rare mutations were distributed in MT-ND4(34.62%,m.11696G > A), MT-ND1(34.62%,including m.3733G > A/m.3866T > C), and MT-ND6 (23.08%, m.14502T>C), with 26.92% harboring dual mutations. Younger patients showed significantly better visual recovery (59.09% vs. 22.73% achieving BCVA ≥ 0.3, P = 0.014), despite comparable baseline vision and structural OCT parameters (pRNFL/GCL thickness, all P > 0.05). T2 hyperintensity in the optic nerve magnetic resonance imaging (MRI) was present in 38.46% of cases.

Conclusions

Our study probes into the clinical and genetic diversity of LHON with rare mtDNA mutations, revealing varied clinical presentations, such as more frequent unilateral involvement and enhanced optic nerve T2 MRI signals. Visual recovery was significantly better in the younger cohort. These results suggest the need for broader genetic testing in atypical LHON cases and offer insights into better prognostic strategies for new therapies.

leber 's遗传性视神经病变（LHON）是一种母系遗传性线粒体疾病，主要由MT-ND1、MT-ND4和MT-ND6突变引起，可导致视网膜神经节细胞变性和严重视力丧失。虽然90%-95%的病例涉及三种常见突变（m.11778G >； A, m.3460G >； A, m.14484T >； C），但罕见突变的遗传和临床特征仍然很差，这给诊断带来了挑战。方法本队列研究分析了26例遗传证实的线粒体DNA （mtDNA）突变的LHON患者。患者接受最佳矫正视力（BCVA）、光学相干断层扫描（OCT）测量（乳头周围视网膜神经纤维层[pRNFL]和黄斑神经节细胞层[GCL]厚度）和神经影像学检查。比较儿童（≤16岁）和成人（≤16岁）亚组的预后。结果该队列（男：女= 4.2:1）中位发病年龄为17岁（范围：4-42岁），单侧受累30.77%。MT-ND4中有罕见突变(34.62%；11696G >； A), MT-ND1(34.62%，其中m. 3733g > A/m；3866T >；C)和MT-ND6 (23.08%, m.14502T>；C)，其中26.92%携带双突变。尽管基线视力和OCT结构参数（pRNFL/GCL厚度，均P >； 0.05）相似，但年轻患者的视力恢复明显更好（59.09% vs. 22.73% BCVA≥0.3,P = 0.014）。视神经磁共振成像（MRI） T2高信号发生率为38.46%。结论我们的研究探讨了罕见mtDNA突变的LHON的临床和遗传多样性，揭示了其不同的临床表现，如单侧受累更频繁，视神经T2 MRI信号增强。在年轻的队列中，视力恢复明显更好。这些结果表明需要在非典型LHON病例中进行更广泛的基因检测，并为新疗法的更好预后策略提供见解。

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引用次数: 0

TOC TOC

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-08-01 DOI: 10.1016/S2667-3762(25)00039-3

引用次数: 0

Shaping the future of myopia with artificial intelligence: Mapping trends and promising directions 用人工智能塑造近视的未来：绘制趋势和有希望的方向

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-07-29 DOI: 10.1016/j.aopr.2025.07.004

Zewei Zhang , Lingfeng Lv , Dongmei Chen , Yusheng Chen , Weijie Zhang , Fang Li , Jibo Zhou

Background

The worldwide increase in myopia and its associated complications has sparked a growing interest in the application of artificial intelligence (AI). This study aims to provide a comprehensive bibliometric analysis of the application of AI in myopia.

Methods

Articles and review articles on AI in myopia were retrieved from the Web of Science Core Collection (WoSCC). VOSviewer and CiteSpace served as the core tools for bibliometric analysis.

Results

Our study included a total of 305 relevant articles, with a steady increase in publications observed from 2010 to 2024. The People's Republic of China secured the top position among the most published countries and Capital Medical University and Sun Yat-sen University emerged as the most active institutions. Xu Xun and Zhou Xingtao contributed the most papers in this area. Translational Vision Science & Technology was the most prolific journal. Keywords analysis highlighted myopia management, orthokeratology and atropine, optical coherence tomography, refractive surgery, and myopia complications as key research areas. While notable advancements have been achieved in early screening, precise diagnosis, and progression prediction of myopia, research on intervention prognosis prediction and intervention decision-making remains inadequate.

Conclusions

While AI has revolutionized myopia screening and diagnosis. further investigation is needed into clinical decision-making on interventions for myopia care. Balancing intervention costs, efficacy, and side effects is critical to advancing the development of AI in myopia in the future.

世界范围内近视及其相关并发症的增加引发了人们对人工智能（AI）应用的兴趣。本研究旨在对人工智能在近视中的应用进行全面的文献计量分析。方法从Web of Science Core Collection （WoSCC）检索人工智能治疗近视的相关文章和综述。VOSviewer和CiteSpace是文献计量学分析的核心工具。结果本研究共收录305篇相关文献，2010年至2024年，相关文献发表量呈稳步增长趋势。在发表最多的国家中，中华人民共和国稳居榜首，首都医科大学和中山大学成为最活跃的院校。在这方面的论文贡献最多的是徐迅和周行涛。《转化视觉科学与技术》是最多产的期刊。关键词分析强调近视管理、角膜塑形术和阿托品、光学相干断层扫描、屈光手术和近视并发症是重点研究领域。虽然在近视的早期筛查、精确诊断和进展预测方面取得了显著进展，但在干预预后预测和干预决策方面的研究仍然不足。虽然人工智能已经彻底改变了近视的筛查和诊断。近视护理干预措施的临床决策有待进一步研究。平衡干预成本、疗效和副作用是未来推进人工智能近视治疗发展的关键。

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引用次数: 0

Five novel pathogenic FZD4 variants identified in familial exudative vitreoretinopathy 在家族性渗出性玻璃体视网膜病变中鉴定出五种新的致病FZD4变异

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-07-25 DOI: 10.1016/j.aopr.2025.07.003

You Wang , Qiong Wang , Limei Chen , Tao Cai , Xiaoyan Ding

Purpose

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal vascular disorder, with nearly half of the cases attributed to mutations in genes involved in the Norrin/β-catenin signaling pathway. This study aimed to identify and functionally characterize novel FZD4 variants in patients with FEVR.

Methods

Genetic sequencing of FZD4 was performed in a cohort of FEVR families, leading to the identification of five novel variants: c.434G > A, c.610T > G, c.844T > C, c.277C > T, and c.1155delC. Bioinformatic predictions, comprehensive clinical evaluations, and dual-luciferase reporter assays were conducted to assess the functional impact and pathogenicity of these variants.

Results

All five FZD4 variants were found to significantly reduce β-catenin signaling activity compared to wild-type FZD4. Among them, two variants previously classified as variants of uncertain significance (VUS) demonstrated functional impairment and clinical segregation consistent with pathogenicity, supporting their reclassification as disease-causing mutations.

Conclusions

These findings expand the known mutational spectrum of FZD4 in FEVR and highlight the critical role of functional validation in the interpretation of novel and uncertain variants. Incorporating experimental assays can improve diagnostic accuracy and inform clinical genetic counseling.

家族性渗出性玻璃体视网膜病变（FEVR）是一种遗传异质性视网膜血管疾病，近一半的病例归因于Norrin/β-catenin信号通路相关基因的突变。本研究旨在鉴定和功能表征FZD4在出血热患者中的新变异。方法对FZD4基因进行测序，鉴定出5个新变异：C. 434g > a、C. 610t > G、C. 844t > C、C. 277c >； T和C. 1155 delc。通过生物信息学预测、综合临床评估和双荧光素酶报告分析来评估这些变异的功能影响和致病性。结果与野生型FZD4相比，所有5种FZD4变异均显著降低β-catenin信号转导活性。其中，先前被归类为不确定意义变异（VUS）的两个变异表现出与致病性一致的功能损伤和临床分离，支持将其重新归类为致病突变。这些发现扩大了FZD4在FEVR中已知的突变谱，并强调了功能验证在解释新的和不确定的变异中的关键作用。结合实验分析可以提高诊断的准确性，并告知临床遗传咨询。

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引用次数: 0

Multimodal data-driven approaches in retinal vein occlusion: A narrative review integrating machine learning and bioinformatics 视网膜静脉闭塞的多模态数据驱动方法：整合机器学习和生物信息学的叙述综述

IF 3.4

Advances in ophthalmology practice and research

Pub Date : 2025-07-14 DOI: 10.1016/j.aopr.2025.07.002

Chunlan Liang, Lian Liu, Jingxiang Zhong

Background

Retinal vein occlusion (RVO) is a leading cause of visual impairment on a global scale. Its pathological mechanisms involve a complex interplay of vascular obstruction, ischemia, and secondary inflammatory responses. Recent interdisciplinary advances, underpinned by the integration of multimodal data, have established a new paradigm for unraveling the pathophysiological mechanisms of RVO, enabling early diagnosis and personalized treatment strategies.

Main text

This review critically synthesizes recent progress at the intersection of machine learning, bioinformatics, and clinical medicine, focusing on developing predictive models and deep analysis, exploring molecular mechanisms, and identifying markers associated with RVO. By bridging technological innovation with clinical needs, this review underscores the potential of data-driven strategies to advance RVO research and optimize patient care.

Conclusions

Machine learning-bioinformatics integration has revolutionised RVO research through predictive modelling and mechanistic insights, particularly via deep learning-enhanced retinal imaging and multi-omics networks. Despite progress, clinical translation requires resolving data standardisation inconsistencies and model generalizability limitations. Establishing multicentre validation frameworks and interpretable AI tools, coupled with patient-focused data platforms through cross-disciplinary collaboration, could enable precision interventions to optimally preserve vision.

背景视网膜静脉阻塞（RVO）是全球范围内视力损害的主要原因。其病理机制涉及血管阻塞、缺血和继发性炎症反应的复杂相互作用。最近跨学科的进展，在多模式数据整合的基础上，为揭示RVO的病理生理机制建立了一个新的范式，使早期诊断和个性化治疗策略成为可能。这篇综述批判性地综合了机器学习、生物信息学和临床医学交叉领域的最新进展，重点是建立预测模型和深入分析，探索分子机制，以及识别与RVO相关的标志物。通过将技术创新与临床需求相结合，本综述强调了数据驱动策略在推进RVO研究和优化患者护理方面的潜力。机器学习与生物信息学的结合通过预测建模和机制洞察，特别是通过深度学习增强的视网膜成像和多组学网络，彻底改变了RVO研究。尽管取得了进展，但临床翻译需要解决数据标准化不一致和模型通用性限制。通过跨学科合作，建立多中心验证框架和可解释的人工智能工具，再加上以患者为中心的数据平台，可以实现精确干预，以最佳方式保护视力。

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引用次数: 0