Ophthalmology and Therapy最新文献

{"title":"Artificial Intelligence-Based Uveitis Diagnosis Through Retinal Vasculature Analysis: A Paradigm Shift in Ocular Tuberculosis.","authors":"Ikhwanuliman Putera, Jose D Vargas Quiros, Saskia M Rombach, Willem A Dik, P Martin van Hagen, Rina La Distia Nora","doi":"10.1007/s40123-025-01103-4","DOIUrl":"10.1007/s40123-025-01103-4","url":null,"abstract":"<p><strong>Introduction: </strong>Diagnosis of uveitis is complex and often requires a series of investigations. Here, we utilize artificial intelligence (AI) for the quantitative analysis of retinal vasculature parameters from fundus photographs to differentiate confirmed ocular tuberculosis (TB) from QuantiFERON (QFT)-positive uveitis without another identifiable cause and ocular toxoplasmosis.</p><p><strong>Methods: </strong>Medical records and stored fundus images of patients with uveitis from a cohort at the Department of Ophthalmology, University of Indonesia, were analyzed. Three groups of patients were included: confirmed ocular TB (group A), QFT-positive uveitis (group B), and ocular toxoplasmosis (group C). Fundus images were processed using the Retinalysis models package for segmentation and quantification of retinal vasculature parameters.</p><p><strong>Results: </strong>The study included nine patients (13 eyes) in group A, 38 patients (48 eyes) in group B, and 26 patients (39 eyes) in group C. Significant differences were found in vein tortuosity parameter, in the eyes within group A showing lower tortuosity score compared to eyes within group B (p = 0.030) and group C (p = 0.013). The area under the curve (AUC) of vein tortuosity for group A compared to group B was 0.749 (95% confidence interval (CI): 0.606-0.892), with a sensitivity of 67.3% and specificity of 76.9%. The AUC of vein tortuosity for group A against group C was 0.803 (95% CI: 0.658-0.948), with a sensitivity of 74.4% and a specificity of 84.6%. In group A, uveitis resolution and vein tortuosity tended to be normalized upon complete antitubercular treatment.</p><p><strong>Conclusions: </strong>AI-based quantification of retinal vasculature parameters, particularly vein tortuosity, can differentiate confirmed ocular TB from QFT-positive uveitis and ocular toxoplasmosis. This approach shows promise for more precise diagnostic and therapeutic accuracy in ocular TB.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"717-732"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing Precision and Clarity with New Digital Color Assistant in 3D Heads-Up Vitreoretinal Surgery.","authors":"Rodolfo Mastropasqua, Alberto Quarta, Maria Ludovica Ruggeri, Leonardo Mastropasqua","doi":"10.1007/s40123-025-01106-1","DOIUrl":"10.1007/s40123-025-01106-1","url":null,"abstract":"<p><strong>Introduction: </strong>To describe the advantages of the ARTEVO^® 850 digital color assistant (DCA) for enhancing visualization during vitreoretinal surgery.</p><p><strong>Methods: </strong>All surgical procedures were conducted under the expertise of a single surgeon utilizing the ARTEVO^® 850 heads-up microscope from ZEISS. During the surgeries, images were contemporaneously recorded with and without the application of the DCA across key phases: core vitrectomy, peripheral vitrectomy, epiretinal membrane (ERM) peeling, and internal limiting membrane (ILM) peeling. This approach enabled a direct comparison to evaluate the impact of the filter on visualization quality during each specific surgical maneuver.</p><p><strong>Results: </strong>The application of the \"vitrectomy blue\" filter on the ARTEVO^® 850 surgical microscope provided advantages, particularly during core and peripheral vitrectomy. The \"vitrectomy blue\" filter improved visualization of the vitreous, allowing for clearer identification and removal of residual vitreous strands and opacities. In surgeries involving ERM, the \"peeling blue\" filter provided enhanced contrast and clarity in visualizing the membrane, facilitating thorough peeling. Furthermore, when used in conjunction with dye staining techniques, it further amplified the visualization of ERM in high myopic eyes. This combination reduced the need for additional re-staining during surgery, streamlining the procedure and potentially minimizing intraoperative complications related to dye toxicity. In macular hole surgery, the \"peeling blue\" filter contributed to improving the characterization and delineation of the hole edges and surrounding tissues.</p><p><strong>Conclusions: </strong>The ARTEVO^® 850 DCA can potentially enhance tissue visualization during vitreoretinal surgeries, particularly in scenarios with compromised visibility. Our observation underscored the efficacy of the blue filter in improving the clarity and contrast of vitreous, ERM and macular hole visualization. This enhancement was particularly evident when the DCA was used in combination with dye staining techniques, which further improved the visualization of ERM in high myopic eyes.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"805-814"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy, Safety, and Injection Frequency with Novel Aflibercept 8 mg in Neovascular Age-Related Macular Degeneration: A Comparison with Existing Anti-VEGF Regimens Using a Bayesian Network Meta-Analysis.","authors":"Piotr Wojciechowski, Marlena Wdowiak, Malgorzata Panek, Izabella Lunk, Joao Carrasco, Xin Zhang, Olivia Wu, Jean-François Korobelnik, Paolo Lanzetta","doi":"10.1007/s40123-025-01098-y","DOIUrl":"10.1007/s40123-025-01098-y","url":null,"abstract":"<p><strong>Introduction: </strong>Aflibercept 8 mg administered in extended dosing intervals has shown non-inferior visual gains and comparable safety profile to aflibercept 2 mg in the PULSAR pivotal randomized clinical trial and has the potential to reduce the treatment burden of treating neovascular age-related macular degeneration (nAMD). This study aimed at gathering robust evidence to assess the comparative efficacy, safety, and treatment burden of aflibercept 8 mg against other anti-vascular endothelial growth factor (VEGF) agents as ranibizumab, brolucizumab, faricimab, and bevacizumab in patients with nAMD.</p><p><strong>Methods: </strong>A systematic literature review (SLR) was conducted, targeting clinical trials of anti-VEGF agents in patients with nAMD. The results of the SLR were included in a network meta-analysis (NMA) comparing aflibercept 8 mg to other anti-VEGF treatments in nAMD, considering a 1-year time horizon. Treatment efficacy was assessed based on the change in best-corrected visual acuity (BCVA) from baseline, the proportion of patients gaining or losing 15 Early Treatment Diabetic Retinopathy Study (ETDRS) letters and changes in anatomical outcomes measured as change in central retinal thickness (CRT) or central subfield thickness (CST). Safety was assessed considering the incidence of ocular and non-ocular adverse events. Treatment burden was defined as the mean number of intravitreal injections over the study period.</p><p><strong>Results: </strong>The base-case NMA involving 21 studies did not show significant differences between aflibercept 8 mg and comparators regarding BCVA change from baseline and proportion of patients with a gain or loss of ≥ 15 letters. On the anatomical endpoints, aflibercept 8 mg was associated with statistically significant improvement in CRT/CST change from baseline compared with ranibizumab in fixed and pro re nata regimens. No significant differences were identified versus the other anti-VEGF. The analysis of the safety outcomes did not identify any significant differences between aflibercept 8 mg and any of the comparators. During the first year of treatment, patients treated with aflibercept 8 mg (following 12- or 16-week injection intervals) received on average 5.9 and 5.1 injections, respectively. For the same period, patients treated with faricimab received from 6.2 to 6.7 injections, patients treated with ranibizumab from 7.62 to 12.14 injections, and patients treated with aflibercept 2 mg up to 7.67 injections.</p><p><strong>Conclusion: </strong>Aflibercept 8 mg demonstrates a comparable efficacy and safety to currently available anti-VEGF treatments for nAMD, with the potential added benefit of requiring fewer injections. These results suggest that aflibercept 8 mg could be a favourable treatment option for nAMD, achieving sustained disease control while alleviating the burden of injections on patients, caregivers, and healthcare providers.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"733-753"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143493162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parainflammation in the Ocular System: Considerations on the Underlying Mechanisms and Treatment of Dry Eye Disease.","authors":"Stefano Barabino, Pasquale Aragona, Christophe Baudouin, Kostas Boboridis, José Salgado-Borges, Jose M Benitez-Del-Castillo, Elisabeth M Messmer, Adriana Stanila, Jutta Horwath-Winter, Edward Wylegala, Maurizio Rolando","doi":"10.1007/s40123-025-01115-0","DOIUrl":"https://doi.org/10.1007/s40123-025-01115-0","url":null,"abstract":"<p><strong>Introduction: </strong>The transition from regulated to dysregulated parainflammation is a new concept that needs to be elucidated to clarify the pathogenesis of dry eye disease (DED). This review summarizes the recent evidence about mechanisms that could lead to dysregulated parainflammation, proposing a new hypothesis to correlate this process with the progression to chronic inflammation.</p><p><strong>Methods: </strong>A group of European experts on DED participated in a roundtable to discuss the role of parainflammation in the most common ocular diseases with regard to DED. Starting from the roundtable contents, a narrative review was conducted through a PubMed search based on the main topics discussed, namely: parainflammation, dysfunctional parainflammation, tear film lipid and mucin alterations, and tear cortisol.</p><p><strong>Results: </strong>Parainflammation is involved in different ocular pathologies and is characterized by the involvement of the immune system and complement factors. In DED, continuous and persistent insults are responsible for the qualitative and quantitative alteration of the lipid and mucin components of the tear film. In addition, other contributing factors have recently been described, such as the reduction of cortisol synthesis by corneal epithelial cells. This altered condition leads to excessive macrophage activity, releasing cytokines and adhesion molecules, losing tissue homeostasis, and possibly progressing to chronic inflammation.</p><p><strong>Conclusions: </strong>Literature evidence supports the crucial role of parainflammation and its usefulness in improving the diagnosis and treatment of DED. At the same time, further investigations are necessary to better define the transition from functional to dysfunctional parainflammation, including the role of ocular surface components other than the tear film.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influence of Crosslinking on Astigmatism Vector in Keratoconus: A Vector Analysis.","authors":"Susanne Marx-Gross, Anne J Winter, Daniel Wollschlaeger, Paul-Rolf Preussner","doi":"10.1007/s40123-025-01121-2","DOIUrl":"https://doi.org/10.1007/s40123-025-01121-2","url":null,"abstract":"<p><strong>Introduction: </strong>Corneal cross linking (CXL) is an appropriate method to treat progressive keratoconus in order to stop progression. Generally, the change in the maximum corneal power (Kmax), corneal thickness, and total astigmatism are assessed for progression analysis. The aim of this study is to answer the question of whether corneal astigmatism is suitable for quantifying keratoconus progression or demonstrating stability. To improve accuracy, we analyze astigmatism as a vector parameter in CXL follow-up.</p><p><strong>Methods: </strong>We performed a retrospective observational study analyzing a total of 74 eyes diagnosed with progressive keratoconus that received CXL treatment and had a follow-up period of at least 12 months, and in some cases, up to 5 years. In the Scheimpflug imaging examination (Pentacam^®), the focus was on the change of Kmax in diopter (D), astigmatism of the corneal front, and its vector parameter.</p><p><strong>Results: </strong>Preoperatively, we observed an increase in Kmax difference (KmaxD) (median +1.9 D ± standard deviation, SD 2.2) and astigmatism vector difference (AVD) (median +0.7 D ± SD 1.6) with a positive correlation, which establishes a treatment indication. The follow-up showed a stabilization of KmaxD and AVD after 12 months (median KmaxD -0.7 D, AVD -0.4), and over the periods of 3 and 5 years, a further stabilization of the curvature parameters with a lower number of cases.</p><p><strong>Conclusions: </strong>Compared with an analysis of an absolute value only, the vector analysis of astigmatism allows a much more precise description of astigmatism in order to verify the effectiveness of CXL. Both astigmatism vector and Kmax preoperatively increased and stabilized potstoperatively. Astigmatism presumably has a significant effect on the quality of vision and should therefore also be used as an additional stability factor beside Kmax.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global, Regional, and National Burden of Trachoma: Cross-Country Inequalities, 1990-2021, with Projections to 2040.","authors":"Yang Meng, Furong Li, Shun Zeng, Chaoqun Liang, Wei Chi","doi":"10.1007/s40123-025-01102-5","DOIUrl":"https://doi.org/10.1007/s40123-025-01102-5","url":null,"abstract":"<p><strong>Introduction: </strong>In this work, we aim to evaluate the trends and cross-country inequalities of the global trachoma burden from 1990 to 2021 and to project its burden to 2040.</p><p><strong>Methods: </strong>This study was a systematic analysis of the Global Burden of Diseases Study (GBD) 2021. Estimates for the prevalence and disability-adjusted life-years (DALYs) of trachoma were extracted from the GBD 2021 database. Epidemiological characteristics of trachoma were reported at the global, regional, and national levels. Trend analysis, decomposition analysis, and health inequality analysis were used. The global trachoma burden was further projected to 2040 via Bayesian age-period-cohort analysis.</p><p><strong>Results: </strong>Globally, 1,414,047 people were estimated to have trachoma in 2021, with an age-standardized prevalence rate of 16.37 per 100,000 population. Between 1990 and 2021, the prevalent cases and DALY numbers of trachoma decreased by 30.2% and 34.4%, respectively. In 2021, Eastern Sub-Saharan Africa was the region, and Ethiopia was the country with the highest number of trachoma cases. Decomposition analysis revealed that the reduction in the global burden was attributed primarily to epidemiological changes. From 1990 to 2021, countries with lower sociodemographic indices (SDIs) disproportionately bore the heaviest burden. While the prevalence and DALY rates are projected to decrease from 2022 to 2040, the prevalent cases and DALY numbers are expected to increase.</p><p><strong>Conclusions: </strong>Over the past three decades, the global burden of trachoma has decreased significantly, but SDI-related inequalities among countries have persisted. Despite reductions in the prevalence rate, the number of patients with trachoma is projected to increase from 2022 to 2040. Our study provides valuable insights into the elimination of trachoma worldwide.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143736107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Systematic Review and Meta-Analysis of Perceptual Learning and Video Game Training for Adults with Monocular Amblyopia.","authors":"Xiaolu Ming, Gantian Huang, Xiaohang Chen, Meng Liao, Longqian Liu","doi":"10.1007/s40123-025-01128-9","DOIUrl":"https://doi.org/10.1007/s40123-025-01128-9","url":null,"abstract":"<p><strong>Introduction: </strong>Amblyopia is a neurodevelopmental disorder characterized by a reduction in best-corrected visual acuity (BCVA). This meta-analysis aimed to analyze the effectiveness of perceptual learning and video game training for adults with amblyopia.</p><p><strong>Methods: </strong>Following Cochrane guidelines (PROSPERO CRD42024504502), we conducted a systematic search across multiple databases. Randomized controlled trials (RCTs) on adults with amblyopia receiving behavioral therapies were included. Data on interventions, sample size, and logMAR visual acuity were extracted and analyzed using Review Manager 5.4 and Stata 17.0.</p><p><strong>Results: </strong>A total of 6439 studies were identified, with 22 meeting the inclusion criteria after screening. The meta-analysis included 422 adult patients with amblyopia across these studies. Quality assessment revealed that 78% of studies had a low risk of bias. The analysis showed a statistically significant standardized mean difference (SMD) of -0.68 in the experimental group compared with controls, indicating an improvement in visual acuity (P < 0.05). Subgroup analyses indicated that perceptual learning and video game training also resulted in visual improvement (P < 0.05). In addition, the results indicated a significant improvement in visual acuity with dichoptic training or monocular training, reaching visual acuity improvement (P < 0.05).</p><p><strong>Conclusions: </strong>These findings indicate that targeted visual training facilitates neural plasticity, reduces interocular suppression, and reinforces neural pathways associated with visual processing. While video game-based interventions represent a viable and engaging rehabilitation strategy, a combined approach may be most effective in enhancing monocular and binocular functions. Future research should focus on refining training protocols to enhance both monocular and binocular visual function more effectively.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Deep Learning Segmentation Model for Detection of Active Proliferative Diabetic Retinopathy.","authors":"Sebastian Dinesen, Marianne G Schou, Christoffer V Hedegaard, Yousif Subhi, Thiusius R Savarimuthu, Tunde Peto, Jakob K H Andersen, Jakob Grauslund","doi":"10.1007/s40123-025-01127-w","DOIUrl":"https://doi.org/10.1007/s40123-025-01127-w","url":null,"abstract":"<p><strong>Introduction: </strong>Existing deep learning (DL) algorithms lack the capability to accurately identify patients in immediate need of treatment for proliferative diabetic retinopathy (PDR). We aimed to develop a DL segmentation model to detect active PDR in six-field retinal images by the annotation of new retinal vessels and preretinal hemorrhages.</p><p><strong>Methods: </strong>We identified six-field retinal images classified at level 4 of the International Clinical Diabetic Retinopathy Disease Severity Scale collected at the Island of Funen from 2009 to 2019 as part of the Danish screening program for diabetic retinopathy (DR). A certified grader (grader 1) manually dichotomized the images into active or inactive PDR, and the images were then reassessed by two independent certified graders. In cases of disagreement, the final classification decision was made in collaboration between grader 1 and one of the secondary graders. Overall, 637 images were classified as active PDR. We then applied our pre-established DL segmentation model to annotate nine lesion types before training the algorithm. The segmentations of new vessels and preretinal hemorrhages were corrected for any inaccuracies before training the DL algorithm. After the classification and pre-segmentation phases the images were divided into training (70%), validation (10%), and testing (20%) datasets. We added 301 images with inactive PDR to the testing dataset.</p><p><strong>Results: </strong>We included 637 images of active PDR and 301 images of inactive PDR from 199 individuals. The training dataset had 1381 new vessel and preretinal hemorrhage lesions, while the validation dataset had 123 lesions and the testing dataset 374 lesions. The DL system demonstrated a sensitivity of 90% and a specificity of 70% for annotation-assisted classification of active PDR. The negative predictive value was 94%, while the positive predictive value was 57%.</p><p><strong>Conclusions: </strong>Our DL segmentation model achieved excellent sensitivity and acceptable specificity in distinguishing active from inactive PDR.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing Diagnosis and Management of Dry Eye Disease: A Practical Framework for Hong Kong.","authors":"Douglas Lam, Kelvin Chong, Kendrick Shih, Kelvin H Wan, Arthur Cheng","doi":"10.1007/s40123-025-01129-8","DOIUrl":"https://doi.org/10.1007/s40123-025-01129-8","url":null,"abstract":"<p><p>Dry eye disease (DED) poses a significant and escalating public health challenge. Effective diagnosis is crucial for optimal management. However, current practices are complicated and time-consuming. This paper proposes a revised framework for diagnosing and treating in Hong Kong, explicitly tailored to the local healthcare context and incorporating insights from global consensus guidelines. The framework emphasizes a streamlined assessment strategy and prioritizes direct symptom-based questioning alongside objective tests. It also includes a simplified corneal staining grading scheme to reduce complexity, considering the limited consultation time available in Hong Kong. Furthermore, the framework clearly outlines the appropriate treatment options based on the disease's severity and etiological cause(s) and focuses on the need for long-term management through follow-up or referrals. By addressing the multifaceted nature of DED and considering local healthcare constraints, this framework seeks to enhance patient outcomes through timely diagnosis and accurate assessment and treatment of DED.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.","authors":"Jonathan Hall, Marta Corton, Fabian Norbert Fries, Jessica Obst, Clara Grünauer-Kloevekorn, Berthold Seitz, Maria Della Volpe Waizel, Eszter Jávorszky, Kálmán Tory, Erika Maka, Maryam Amini, Shweta Suiwal, Tanja Stachon, Nóra Szentmáry","doi":"10.1007/s40123-025-01122-1","DOIUrl":"https://doi.org/10.1007/s40123-025-01122-1","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital aniridia (CA) is a severe and complex disorder involving the entire eye, primarily characterized by iris anomalies alongside other clinical features that pose significant risks to vision. This study seeks to offer a comprehensive overview of CA by detailing its clinical presentations, genetic underpinnings, associated phenotypes, and differential diagnoses. Additionally, it proposes a diagnostic framework to distinguish CA from other conditions that present with similar iris abnormalities.</p><p><strong>Methods: </strong>We conducted a comprehensive literature review to compile and analyze clinical and genetic data related to CA and its differential diagnoses. We included all studies describing the clinical characteristics, pathogenic variants, and associated syndromes of congenital aniridia.</p><p><strong>Results: </strong>CA presents a wide range of ocular symptoms. Pathogenic variants in the PAX6 gene are the primary genetic cause of CA, though variations in other genes, including FOXC1, PITX2, CYP1B1, FOXD3, PITX3, CPAMD8, ITPR1, TENM3, TRIM44, COL4A1, CRYAA, and PXDN may also be implicated. The differential diagnosis of CA requires careful consideration of conditions with overlapping symptoms, such as WAGR syndrome (which involves deletions affecting the PAX6 and WT1 genes on chromosome 11p13, and potentially BDNF on 11p14.1), Axenfeld-Rieger syndrome (FOXC1/PITX2), ring-chromosome 6 syndrome (which involves FOXC1 microdeletion), COL4A1-related anterior segment dysgenesis, Gillespie syndrome (ITPR1 gene) or Peters anomaly. Accurate diagnosis can be achieved by evaluating specific clinical features-including iris anomalies, aniridia-associated keratopathy, cataracts, glaucoma, foveal hypoplasia, nystagmus, and optic nerve head abnormalities-supplemented by genetic testing.</p><p><strong>Conclusions: </strong>Understanding the diverse clinical presentations and genetic basis of diseases associated with iris abnormalities is essential for accurate diagnosis and effective management. Integrating genetic diagnostics into the evaluation process enables the development of tailored treatment strategies, which can significantly improve patient outcomes.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}