Pub Date : 2025-09-01DOI: 10.1016/j.ogla.2025.06.014
Joel S. Schuman MD , Gadi Wollstein MD
The diagnosis and monitoring of glaucoma require precise evaluation of ocular structural features. The advent of ocular imaging has revolutionized both the clinical management and research of glaucoma, establishing itself as a cornerstone of contemporary practice. In this review, we summarize the major advances in ocular imaging technologies and their contributions to the understanding, diagnosis, and monitoring of glaucoma over the past 2 centuries.
Financial Disclosure(s)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
{"title":"Optic Nerve Imaging—From Disc Photos to OCT","authors":"Joel S. Schuman MD , Gadi Wollstein MD","doi":"10.1016/j.ogla.2025.06.014","DOIUrl":"10.1016/j.ogla.2025.06.014","url":null,"abstract":"<div><div>The diagnosis and monitoring of glaucoma require precise evaluation of ocular structural features. The advent of ocular imaging has revolutionized both the clinical management and research of glaucoma, establishing itself as a cornerstone of contemporary practice. In this review, we summarize the major advances in ocular imaging technologies and their contributions to the understanding, diagnosis, and monitoring of glaucoma over the past 2 centuries.</div></div><div><h3>Financial Disclosure(s)</h3><div>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</div></div>","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Pages S14-S19"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790810","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}
Pub Date : 2025-09-01DOI: 10.1016/j.ogla.2025.06.004
Zefeng Yang MD, Fei Li MD, PhD, Xiulan Zhang MD, PhD
{"title":"A Tree Inside the Eye: A Presenting Feature of Axenfeld-Rieger Syndrome","authors":"Zefeng Yang MD, Fei Li MD, PhD, Xiulan Zhang MD, PhD","doi":"10.1016/j.ogla.2025.06.004","DOIUrl":"10.1016/j.ogla.2025.06.004","url":null,"abstract":"","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Page e18"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144593015","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}
Pub Date : 2025-09-01DOI: 10.1016/j.ogla.2025.07.006
David Steven Friedman MD, PhD , Tin Aung PhD , Mingguang He PhD , Paul J. Foster PhD
Primary angle-closure disease (PACD) remains a significant cause of visual morbidity globally, particularly in Asia, where >18.5 million will have primary angle-closure glaucoma (PACG) by 2050. Although glaucomatous optic neuropathy is the most widely recognized cause of visual loss, PACD significantly impacts a range of anterior and posterior segment structures and physiological processes, such as corneal endothelial cell loss, trabecular meshwork structural changes and functional derangement, lens opacities, iris ischemia causing a dilated pupil and consequent degradation in vision, retinal vein occlusions, rapidly evolving pressure-related retinal ischemia, and increased surgical morbidity including aqueous misdirection and zonulopathy. In many cases, the management of the condition will draw on cornea, cataract, refractive, glaucoma, medical, and surgical retina expertise and techniques. Collaboration between the authors and their research networks has led to a series of seminal studies that have redefined the management of angle-closure, with a reduction in the scope of prophylactic laser iridotomy for asymptomatic angle-closure and the emergence of clear lens extraction as the central therapeutic intervention in PACD. Demographic and ocular risk factors are well documented, and the understanding of the molecular genetic mechanisms influencing the risk of PACD is advancing rapidly, offering the prospect of more individualized risk stratification in the near future through the use of polygenic risk scores. These offer clinicians a range of potent tools to deliver improved outcomes for their patients with and persons at risk for PACD.
Financial Disclosure(s)
The author has no/the authors have no proprietary or commercial interest in any materials discussed in this article.
{"title":"Two Decades of Angle-Closure Glaucoma Research","authors":"David Steven Friedman MD, PhD , Tin Aung PhD , Mingguang He PhD , Paul J. Foster PhD","doi":"10.1016/j.ogla.2025.07.006","DOIUrl":"10.1016/j.ogla.2025.07.006","url":null,"abstract":"<div><div>Primary angle-closure disease (PACD) remains a significant cause of visual morbidity globally, particularly in Asia, where >18.5 million will have primary angle-closure glaucoma (PACG) by 2050. Although glaucomatous optic neuropathy is the most widely recognized cause of visual loss, PACD significantly impacts a range of anterior and posterior segment structures and physiological processes, such as corneal endothelial cell loss, trabecular meshwork structural changes and functional derangement, lens opacities, iris ischemia causing a dilated pupil and consequent degradation in vision, retinal vein occlusions, rapidly evolving pressure-related retinal ischemia, and increased surgical morbidity including aqueous misdirection and zonulopathy. In many cases, the management of the condition will draw on cornea, cataract, refractive, glaucoma, medical, and surgical retina expertise and techniques. Collaboration between the authors and their research networks has led to a series of seminal studies that have redefined the management of angle-closure, with a reduction in the scope of prophylactic laser iridotomy for asymptomatic angle-closure and the emergence of clear lens extraction as the central therapeutic intervention in PACD. Demographic and ocular risk factors are well documented, and the understanding of the molecular genetic mechanisms influencing the risk of PACD is advancing rapidly, offering the prospect of more individualized risk stratification in the near future through the use of polygenic risk scores. These offer clinicians a range of potent tools to deliver improved outcomes for their patients with and persons at risk for PACD.</div></div><div><h3>Financial Disclosure(s)</h3><div>The author has no/the authors have no proprietary or commercial interest in any materials discussed in this article.</div></div>","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Pages S45-S48"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144980503","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}
To evaluate the impact of disc hemorrhages (DHs) at different locations on clustered visual field (VF) progression in patients with primary open-angle glaucoma (POAG) over a 3-year prospective study.
Design
A prospective multicenter cohort study.
Participants
Patients diagnosed with POAG and intraocular pressure (IOP) ≤18 mmHg undergoing prostaglandin analog monotherapy.
Methods
Visual field testing, IOP measurements, fundus photography, and OCT scans were conducted quarterly over a 3-year period. Disc hemorrhage locations were categorized into superior, inferior, temporal, and nasal quadrants. The VF was subdivided into superior, inferior, and central regions, with the central VF further divided into superior central and inferior central zones. A multivariable linear mixed-effects model with random intercepts and slopes was employed to analyze the relationship between DH history at specific locations and progressive changes in clustered total deviation (TD).
Main Outcome Measures
Association between DH location and the rate of clustered VF progression.
Results
Among 186 eyes from 109 patients, DH occurred in 61 eyes (32.8%). Superior, inferior, temporal, and nasal DH were observed in 19, 31, 21, and 2 eyes, respectively. A faster superior TD slope was significantly associated with inferior DH (P = 0.032), but not with superior or temporal DH. A faster inferior TD slope was significantly associated with a worse inferior baseline TD value (P = 0.009) and marginally associated with superior DH (P = 0.053) but not with inferior or temporal DH. A faster central TD slope was significantly associated with temporal DH (P < 0.001) and inferior DH (P = 0.034) but not with superior DH. Detailed analysis revealed that inferior DH was significantly associated with the superior central TD slope (P = 0.010) but not with the inferior central TD slope. Although DH recurrence was observed in 37 eyes, the number of DH events did not show an additive effect on corresponding clustered VF progression.
Conclusions
The location of DH was strongly associated with corresponding clustered VF progression in patients with POAG. Both temporal and inferior DH represent risk factors for central VF progression.
Financial Disclosure(s)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
{"title":"Associations between Clustered Visual Field Progression and Locations of Disc Hemorrhages in Glaucoma","authors":"Tadamichi Akagi MD, PhD , Takeo Fukuchi MD, PhD , Tomomi Higashide MD, PhD , Sachiko Udagawa PhD , Shinji Ohkubo MD, PhD , Kazuhisa Sugiyama MD, PhD , Hidenobu Tanihara MD, PhD , Makoto Araie MD, PhD , Goji Tomita MD, PhD , Chota Matsumoto MD, PhD , Atsuo Tomidokoro MD, PhD , Masanori Hangai MD, PhD , Hisashi Kawata MS , Maya Inai MS , Yuki Tanaka MS , SVF Prospector Study Group","doi":"10.1016/j.ogla.2025.04.009","DOIUrl":"10.1016/j.ogla.2025.04.009","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate the impact of disc hemorrhages (DHs) at different locations on clustered visual field (VF) progression in patients with primary open-angle glaucoma (POAG) over a 3-year prospective study.</div></div><div><h3>Design</h3><div>A prospective multicenter cohort study.</div></div><div><h3>Participants</h3><div>Patients diagnosed with POAG and intraocular pressure (IOP) ≤18 mmHg undergoing prostaglandin analog monotherapy.</div></div><div><h3>Methods</h3><div>Visual field testing, IOP measurements, fundus photography, and OCT scans were conducted quarterly over a 3-year period. Disc hemorrhage locations were categorized into superior, inferior, temporal, and nasal quadrants. The VF was subdivided into superior, inferior, and central regions, with the central VF further divided into superior central and inferior central zones. A multivariable linear mixed-effects model with random intercepts and slopes was employed to analyze the relationship between DH history at specific locations and progressive changes in clustered total deviation (TD).</div></div><div><h3>Main Outcome Measures</h3><div>Association between DH location and the rate of clustered VF progression.</div></div><div><h3>Results</h3><div>Among 186 eyes from 109 patients, DH occurred in 61 eyes (32.8%). Superior, inferior, temporal, and nasal DH were observed in 19, 31, 21, and 2 eyes, respectively. A faster superior TD slope was significantly associated with inferior DH (<em>P</em> = 0.032), but not with superior or temporal DH. A faster inferior TD slope was significantly associated with a worse inferior baseline TD value (<em>P</em> = 0.009) and marginally associated with superior DH (<em>P</em> = 0.053) but not with inferior or temporal DH. A faster central TD slope was significantly associated with temporal DH (<em>P</em> < 0.001) and inferior DH (<em>P</em> = 0.034) but not with superior DH. Detailed analysis revealed that inferior DH was significantly associated with the superior central TD slope (<em>P</em> = 0.010) but not with the inferior central TD slope. Although DH recurrence was observed in 37 eyes, the number of DH events did not show an additive effect on corresponding clustered VF progression.</div></div><div><h3>Conclusions</h3><div>The location of DH was strongly associated with corresponding clustered VF progression in patients with POAG. Both temporal and inferior DH represent risk factors for central VF progression.</div></div><div><h3>Financial Disclosure(s)</h3><div>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</div></div>","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Pages 528-537"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144063319","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}
Pub Date : 2025-09-01DOI: 10.1016/j.ogla.2025.07.008
Sasan Moghimi MD, Christopher Girkin MD, MSPH, Robert N. Weinreb MD
To date, evidence from multiple randomized controlled trials has shown that effective intraocular pressure (IOP)-lowering therapy significantly reduces the risk of glaucomatous progression across all stages of the disease. Changes in IOP have a substantial impact on the load-bearing connective tissues of the optic nerve head (ONH), as well as the overlying neurovascular tissues of the ONH and retina. An initial treatment goal of reducing IOP by 25% to 35%—and possibly more in advanced cases—can help prevent progression. Additionally, maintaining stable IOP by minimizing both diurnal and long-term fluctuations may further enhance disease control and reduce the risk of worsening.
Financial Disclosure(s)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
{"title":"Intraocular Pressure Matters","authors":"Sasan Moghimi MD, Christopher Girkin MD, MSPH, Robert N. Weinreb MD","doi":"10.1016/j.ogla.2025.07.008","DOIUrl":"10.1016/j.ogla.2025.07.008","url":null,"abstract":"<div><div>To date, evidence from multiple randomized controlled trials has shown that effective intraocular pressure (IOP)-lowering therapy significantly reduces the risk of glaucomatous progression across all stages of the disease. Changes in IOP have a substantial impact on the load-bearing connective tissues of the optic nerve head (ONH), as well as the overlying neurovascular tissues of the ONH and retina. An initial treatment goal of reducing IOP by 25% to 35%—and possibly more in advanced cases—can help prevent progression. Additionally, maintaining stable IOP by minimizing both diurnal and long-term fluctuations may further enhance disease control and reduce the risk of worsening.</div></div><div><h3>Financial Disclosure(s)</h3><div>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</div></div>","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Pages S6-S13"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144980535","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}
Pub Date : 2025-09-01DOI: 10.1016/j.ogla.2025.08.002
Eydie Miller-Ellis MD , Gloria P. Fleming MD
There has been a remarkable evolution of medical therapy for glaucoma over the 4 decades since the founding of the American Glaucoma Society in 1985. The therapeutic landscape has undergone a transformation from limited, poorly tolerated treatment options to sophisticated patient-centered approaches that prioritize efficacy, convenience, and improved quality of life. This evolution was propelled not only by advances in pharmacological understanding and drug delivery innovation, but also by a growing recognition of how medication-related side effects contribute to nonadherence and the overall burden of disease. Key developments have included the transition from systemic to topical formulations, which mitigated several systemic side effects; the expansion of drug classes targeting alternate pathways of outflow; the advent of once-daily dosing regimens improving patient compliance; and the evolution of sustained-release delivery models, potentially reducing or eliminating the dependency of patient daily participation. Our understanding of the critical importance of ocular surface health in long-term treatment success gave rise to the development of preservative-free formulations. This four-decade journey from limited treatment options to evolutionary paradigm shifts in medical management demonstrates the power of scientific innovation in the quest to preserve vision while also enhancing quality of life measures for our patients with chronic disease. As interventions like minimally invasive glaucoma surgeries evolve, the role of glaucoma medical management may shift, but currently remains a dependable cornerstone in our treatment algorithms.
Financial Disclosure(s)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
{"title":"Then and Now: Medical Therapy for Glaucoma","authors":"Eydie Miller-Ellis MD , Gloria P. Fleming MD","doi":"10.1016/j.ogla.2025.08.002","DOIUrl":"10.1016/j.ogla.2025.08.002","url":null,"abstract":"<div><div>There has been a remarkable evolution of medical therapy for glaucoma over the 4 decades since the founding of the American Glaucoma Society in 1985. The therapeutic landscape has undergone a transformation from limited, poorly tolerated treatment options to sophisticated patient-centered approaches that prioritize efficacy, convenience, and improved quality of life. This evolution was propelled not only by advances in pharmacological understanding and drug delivery innovation, but also by a growing recognition of how medication-related side effects contribute to nonadherence and the overall burden of disease. Key developments have included the transition from systemic to topical formulations, which mitigated several systemic side effects; the expansion of drug classes targeting alternate pathways of outflow; the advent of once-daily dosing regimens improving patient compliance; and the evolution of sustained-release delivery models, potentially reducing or eliminating the dependency of patient daily participation. Our understanding of the critical importance of ocular surface health in long-term treatment success gave rise to the development of preservative-free formulations. This four-decade journey from limited treatment options to evolutionary paradigm shifts in medical management demonstrates the power of scientific innovation in the quest to preserve vision while also enhancing quality of life measures for our patients with chronic disease. As interventions like minimally invasive glaucoma surgeries evolve, the role of glaucoma medical management may shift, but currently remains a dependable cornerstone in our treatment algorithms.</div></div><div><h3>Financial Disclosure(s)</h3><div>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</div></div>","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Pages S33-S37"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994411","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}
Pub Date : 2025-09-01DOI: 10.1016/j.ogla.2025.04.012
Rita Rodrigues MD , David Alves MD , João Esteves-Leandro MD , Marta Silva MD , João Barbosa-Breda MD, PhD , João Tavares-Ferreira MD , Joana Araújo MD , Susana Fernandes PhD , Renata Oliveira MD , António Melo MD , Flávio Alves MD , Augusto Magalhães MD , José Cotta MD , Sérgio Estrela-Silva MD
<div><h3>Purpose</h3><div>To identify <span><span>CYP1B1</span></span><span> variants in primary congenital glaucoma (PCG) patients from Northern Portugal and examine genotype–phenotype correlations.</span></div></div><div><h3>Design</h3><div>Cross sectional observational study.</div></div><div><h3>Participants</h3><div>Seventy-one patients diagnosed and treated for PCG at ULS São João, Porto, Portugal, were included. These patients met the following criteria: available genetic testing data, a minimum follow-up period of 1 year, and the last appointment between January 2022 and January 2024.</div></div><div><h3>Methods</h3><div>Demographic and clinical data were collected. <em>CYP1B1</em><span> variants were screened using DNA sequencing. A next-generation sequencing (NGS) glaucoma panel was performed in patients with heterozygous or absent </span><em>CYP1B1</em> variants in the screening. Genotype–phenotype correlations were assessed by comparing clinical characteristics between patients with identified biallelic plausible disease-causing variants in <em>CYP1B1</em> variants and those with negative genetic testing results.</div></div><div><h3>Main Outcome Measures</h3><div><em>CYP1B1</em><span> variants, sex, laterality, age at diagnosis, age at first surgery, number of surgical procedures, number of intraocular pressure (IOP)-lowering medications, IOP at last follow-up, and final best-corrected visual acuity (BCVA).</span></div></div><div><h3>Results</h3><div><span>Sixty-six unrelated probands and 5 affected relatives (133 eyes) were analyzed. Two plausible disease-causing </span><em>CYP1B1</em> variants were identified in 60.6% (43/71) of patients. Nineteen distinct <em>CYP1B1</em> variants were identified, including 4 novel variants. The most frequent variants were c.535del (43.5%) and c.1200_1209dup (28.2%). Compared with negative genetic testing group (n = 22), patients with <em>CYP1B1</em> variants (n = 43) showed significantly higher rates of bilateral disease (100% vs. 68%, <em>P</em> < 0.001), earlier disease onset (median 0 vs. 5.5 months, <em>P</em> < 0.001), poorer final BCVA (median 0.5 vs. 0.25 logarithm of the minimum angle of resolution, <em>P</em> = 0.025), higher IOP at last follow-up (median 16 vs. 12 mmHg, <em>P</em> < 0.001), and greater need for surgical interventions (median 2 vs. 1, <em>P</em> = 0.014) and IOP-lowering medications (median 2 vs. 0, <em>P</em> = 0.005). Next-generation sequencing testing in <em>CYP1B1</em>-negative patients identified 3 novel heterozygous variants of uncertain significance in the TEK gene.</div></div><div><h3>Conclusions</h3><div>Primary congenital glaucoma patients from Northern Portugal with <em>CYP1B1</em> variants are more likely to present with bilateral disease, earlier onset, and a more severe clinical phenotype, suggesting a strong genotype–phenotype correlation.</div></div><div><h3>Financial Disclosure(s)</h3><div>The authors have no proprietary or commercial interest in a
目的：鉴定葡萄牙北部原发性先天性青光眼（PCG）患者的CYP1B1变异，并检查基因型与表型的相关性。设计：横断面观察性研究。参与者：71例在葡萄牙波尔图的 o jo s诊断和治疗的PCG患者。这些患者符合以下标准：可获得基因检测数据，至少随访1年，最后一次预约时间为2022年1月至2024年1月。方法：收集人口学和临床资料。使用DNA测序筛选CYP1B1变异体。下一代测序（NGS）青光眼小组在筛选中杂合或缺失CYP1B1变异的患者中进行。通过比较在CYP1B1变异中确定的双等位基因似是而非的致病变异的患者与基因检测结果为阴性的患者的临床特征，评估基因型-表型相关性。主要观察指标：CYP1B1变异、性别、侧边、诊断时年龄、首次手术年龄、手术次数、降眼压药物次数、最后随访时眼压、最终最佳矫正视力（BCVA）。结果：对66例无血缘关系先证者和5例患病亲属（133眼）进行分析。60.6%（43/71）的患者发现了两种可能致病的CYP1B1变异。鉴定出19种不同的CYP1B1变异，包括4种新的变异。最常见的变异是c.535del（43.5%）和c.1200_1209dup（28.2%）。与基因检测阴性组（n=22）相比，CYP1B1变异患者（n=43）的双侧疾病发生率明显更高(100% vs 68%， p结论：来自葡萄牙北部的CYP1B1变异的PCG患者更容易出现双侧疾病，发病更早，临床表型更严重，提示基因型-表型相关性强。
{"title":"Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma","authors":"Rita Rodrigues MD , David Alves MD , João Esteves-Leandro MD , Marta Silva MD , João Barbosa-Breda MD, PhD , João Tavares-Ferreira MD , Joana Araújo MD , Susana Fernandes PhD , Renata Oliveira MD , António Melo MD , Flávio Alves MD , Augusto Magalhães MD , José Cotta MD , Sérgio Estrela-Silva MD","doi":"10.1016/j.ogla.2025.04.012","DOIUrl":"10.1016/j.ogla.2025.04.012","url":null,"abstract":"<div><h3>Purpose</h3><div>To identify <span><span>CYP1B1</span></span><span> variants in primary congenital glaucoma (PCG) patients from Northern Portugal and examine genotype–phenotype correlations.</span></div></div><div><h3>Design</h3><div>Cross sectional observational study.</div></div><div><h3>Participants</h3><div>Seventy-one patients diagnosed and treated for PCG at ULS São João, Porto, Portugal, were included. These patients met the following criteria: available genetic testing data, a minimum follow-up period of 1 year, and the last appointment between January 2022 and January 2024.</div></div><div><h3>Methods</h3><div>Demographic and clinical data were collected. <em>CYP1B1</em><span> variants were screened using DNA sequencing. A next-generation sequencing (NGS) glaucoma panel was performed in patients with heterozygous or absent </span><em>CYP1B1</em> variants in the screening. Genotype–phenotype correlations were assessed by comparing clinical characteristics between patients with identified biallelic plausible disease-causing variants in <em>CYP1B1</em> variants and those with negative genetic testing results.</div></div><div><h3>Main Outcome Measures</h3><div><em>CYP1B1</em><span> variants, sex, laterality, age at diagnosis, age at first surgery, number of surgical procedures, number of intraocular pressure (IOP)-lowering medications, IOP at last follow-up, and final best-corrected visual acuity (BCVA).</span></div></div><div><h3>Results</h3><div><span>Sixty-six unrelated probands and 5 affected relatives (133 eyes) were analyzed. Two plausible disease-causing </span><em>CYP1B1</em> variants were identified in 60.6% (43/71) of patients. Nineteen distinct <em>CYP1B1</em> variants were identified, including 4 novel variants. The most frequent variants were c.535del (43.5%) and c.1200_1209dup (28.2%). Compared with negative genetic testing group (n = 22), patients with <em>CYP1B1</em> variants (n = 43) showed significantly higher rates of bilateral disease (100% vs. 68%, <em>P</em> < 0.001), earlier disease onset (median 0 vs. 5.5 months, <em>P</em> < 0.001), poorer final BCVA (median 0.5 vs. 0.25 logarithm of the minimum angle of resolution, <em>P</em> = 0.025), higher IOP at last follow-up (median 16 vs. 12 mmHg, <em>P</em> < 0.001), and greater need for surgical interventions (median 2 vs. 1, <em>P</em> = 0.014) and IOP-lowering medications (median 2 vs. 0, <em>P</em> = 0.005). Next-generation sequencing testing in <em>CYP1B1</em>-negative patients identified 3 novel heterozygous variants of uncertain significance in the TEK gene.</div></div><div><h3>Conclusions</h3><div>Primary congenital glaucoma patients from Northern Portugal with <em>CYP1B1</em> variants are more likely to present with bilateral disease, earlier onset, and a more severe clinical phenotype, suggesting a strong genotype–phenotype correlation.</div></div><div><h3>Financial Disclosure(s)</h3><div>The authors have no proprietary or commercial interest in a","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Pages 457-465"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043049","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}
Pub Date : 2025-09-01DOI: 10.1016/j.ogla.2025.04.006
Zayn Al-Timimi BMed, MD , Samrat Sarkar BOptom, MAppSc , Sapna Nand BAppSc(Orth) , Simon E. Skalicky MBBS, PhD , Sartaj Sandhu MBBS , Hamish Dunn MBBS, PhD , Lisa Keay MPH, PhD
Purpose
Patient-centered care is key to successful clinical outcomes and meaningful clinician–patient relationships. Accordingly, a comprehensive understanding of patient perspectives is essential to aligning the clinician's focus and patient's goals. However, our understanding of patients' perceptions of glaucoma surgery and involvement in surgical decision-making has not kept pace with the rapid treatment advances in the field and move toward earlier surgery with the advent of minimally invasive glaucoma surgery devices. The purpose of this study was to understand the perspectives and priorities of people with glaucoma when considering glaucoma surgery through qualitative analysis of semistructured interviews.
Design
A qualitative study.
Participants
Individuals diagnosed with glaucoma, above 18 years of age, and able to communicate effectively in English. Interviews were conducted with 40 participants: 23 participants who had undergone glaucoma surgery and 17 who had not.
Methods
Interviews were conducted over telephone, using an interview guide developed in consultation with people with glaucoma and surgeons. The cohort was purposely sampled to ensure representation across age, sex, socioeconomic status, remoteness, glaucoma severity, clinic settings, and treatment histories. Transcripts were iteratively analyzed to identify key themes pertaining to perceptions of glaucoma surgery and involvement in decision-making.
Main Outcome Measures
Surgical perception and involvement themes, including barriers and bridges to confidence in glaucoma surgery.
Results
Six key themes were identified: (1) patients feeling rushed; (2) onus on the patient to seek information; (3) undercurrents of anxiety; (4) perceptions of surgery shaped by understanding and expectations of the disease and its treatment paradigm; (5) trust in surgeon imbuing confidence in surgery; and (6) empowerment through understanding of alternatives. Key barriers to patient involvement included patient anxiety, time pressures (real or perceived), and perceived urgency of intervention.
Conclusions
Shared decision-making in glaucoma surgery remains aspirational. This study provides valuable insights into patient perceptions of glaucoma surgery, which can help inform patient-centered care. Readily applicable “practice points” are proposed to optimize patient involvement and empowerment.
Financial Disclosure(s)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
{"title":"Meaningful Patient Partnerships","authors":"Zayn Al-Timimi BMed, MD , Samrat Sarkar BOptom, MAppSc , Sapna Nand BAppSc(Orth) , Simon E. Skalicky MBBS, PhD , Sartaj Sandhu MBBS , Hamish Dunn MBBS, PhD , Lisa Keay MPH, PhD","doi":"10.1016/j.ogla.2025.04.006","DOIUrl":"10.1016/j.ogla.2025.04.006","url":null,"abstract":"<div><h3>Purpose</h3><div>Patient-centered care is key to successful clinical outcomes and meaningful clinician–patient relationships. Accordingly, a comprehensive understanding of patient perspectives is essential to aligning the clinician's focus and patient's goals. However, our understanding of patients' perceptions of glaucoma surgery<span> and involvement in surgical decision-making has not kept pace with the rapid treatment advances in the field and move toward earlier surgery with the advent of minimally invasive glaucoma surgery devices. The purpose of this study was to understand the perspectives and priorities of people with glaucoma when considering glaucoma surgery through qualitative analysis of semistructured interviews.</span></div></div><div><h3>Design</h3><div>A qualitative study.</div></div><div><h3>Participants</h3><div>Individuals diagnosed with glaucoma, above 18 years of age, and able to communicate effectively in English. Interviews were conducted with 40 participants: 23 participants who had undergone glaucoma surgery and 17 who had not.</div></div><div><h3>Methods</h3><div>Interviews were conducted over telephone, using an interview guide developed in consultation with people with glaucoma and surgeons. The cohort was purposely sampled to ensure representation across age, sex, socioeconomic status, remoteness, glaucoma severity, clinic settings, and treatment histories. Transcripts were iteratively analyzed to identify key themes pertaining to perceptions of glaucoma surgery and involvement in decision-making.</div></div><div><h3>Main Outcome Measures</h3><div>Surgical perception and involvement themes, including barriers and bridges to confidence in glaucoma surgery.</div></div><div><h3>Results</h3><div>Six key themes were identified: (1) patients feeling rushed; (2) onus on the patient to seek information; (3) undercurrents of anxiety; (4) perceptions of surgery shaped by understanding and expectations of the disease and its treatment paradigm; (5) trust in surgeon imbuing confidence in surgery; and (6) empowerment through understanding of alternatives. Key barriers to patient involvement included patient anxiety, time pressures (real or perceived), and perceived urgency of intervention.</div></div><div><h3>Conclusions</h3><div>Shared decision-making in glaucoma surgery remains aspirational. This study provides valuable insights into patient perceptions of glaucoma surgery, which can help inform patient-centered care. Readily applicable “practice points” are proposed to optimize patient involvement and empowerment.</div></div><div><h3>Financial Disclosure(s)</h3><div>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</div></div>","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Pages 440-449"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144061085","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}
Pub Date : 2025-09-01DOI: 10.1016/j.ogla.2025.08.001
Anfei Li MD, PhD , C. Gustavo De Moraes MD, PhD
The assessment of the human visual field, a concept explored since ancient Greece, underwent a critical transformation in the 19th century with the advent of objective measurement techniques. Early methodologies concentrated on mapping the outer limits of vision, a practice known as perimetry. However, the focus soon shifted toward campimetry (although the name perimetry remained), which involves assessing defects within the central/paracentral visual field—a crucial development for diagnosing diseases such as glaucoma. Although historical methods such as Bjerrum tangent screen and Goldmann kinetic perimetry were foundational, the last 4 decades have been defined by the rise of static automated perimetry (SAP). Coinciding with the inception of the American Glaucoma Society, the 1980s marked a pivotal transition from manual techniques to computerized, automated testing. Static automated perimetry, exemplified by the Humphrey Field Analyzer (HFA), has since become the clinical standard, offering a precise and reproducible method for quantifying visual field sensitivities, which is indispensable for the detection and management of glaucoma. This review examines the evolution of modern visual field testing over the past 40 years, focusing on the technological advancements in hardware, software algorithms, and novel testing paradigms that have reshaped our approach to glaucoma care.
Financial Disclosure(s)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
人类视野的评估是一个自古希腊以来就被探索的概念，随着客观测量技术的出现，在19世纪经历了一个关键的转变。早期的方法集中于绘制视觉的外部界限，这种做法被称为视野测量。然而，焦点很快转向了视野测量（尽管名称仍然保留），它涉及评估中央/副中央视野内的缺陷——这是诊断青光眼等疾病的关键发展。虽然Bjerrum切线筛和Goldmann动力学视野测量等历史方法是基础，但在过去的40年里，静态自动视野测量（SAP）的兴起定义了这一方法。20世纪80年代恰逢美国青光眼协会成立，标志着从手工技术到计算机化、自动化测试的关键转变。以汉弗莱视场分析仪（Humphrey Field Analyzer， HFA）为代表的静态自动视场测量从此成为临床标准，提供了一种精确、可重复的量化视野灵敏度的方法，这对于青光眼的检测和治疗是不可或缺的。本文回顾了过去40年来现代视野检测的发展，重点介绍了硬件、软件算法和新的检测范式方面的技术进步，这些技术进步重塑了我们对青光眼的治疗方法。财务披露：专有或商业披露可在本文末尾的脚注和披露中找到。
{"title":"The Evolution of Visual Field Testing","authors":"Anfei Li MD, PhD , C. Gustavo De Moraes MD, PhD","doi":"10.1016/j.ogla.2025.08.001","DOIUrl":"10.1016/j.ogla.2025.08.001","url":null,"abstract":"<div><div>The assessment of the human visual field, a concept explored since ancient Greece, underwent a critical transformation in the 19th century with the advent of objective measurement techniques. Early methodologies concentrated on mapping the outer limits of vision, a practice known as perimetry. However, the focus soon shifted toward campimetry (although the name <em>perimetry</em> remained), which involves assessing defects within the central/paracentral visual field—a crucial development for diagnosing diseases such as glaucoma. Although historical methods such as Bjerrum tangent screen and Goldmann kinetic perimetry were foundational, the last 4 decades have been defined by the rise of static automated perimetry (SAP). Coinciding with the inception of the American Glaucoma Society, the 1980s marked a pivotal transition from manual techniques to computerized, automated testing. Static automated perimetry, exemplified by the Humphrey Field Analyzer (HFA), has since become the clinical standard, offering a precise and reproducible method for quantifying visual field sensitivities, which is indispensable for the detection and management of glaucoma. This review examines the evolution of modern visual field testing over the past 40 years, focusing on the technological advancements in hardware, software algorithms, and novel testing paradigms that have reshaped our approach to glaucoma care.</div></div><div><h3>Financial Disclosure(s)</h3><div>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</div></div>","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Pages S20-S26"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994451","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}
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