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Sulcus Tube in a Patient with Axenfeld-Rieger Syndrome Axenfeld-Rieger综合征患者的沟管。
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 10.1016/j.ogla.2025.05.003
Lauren S. Blieden MD , Peter T. Chang MD
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引用次数: 0
The Frontloading Approach to Meet Guideline-Recommended Visual Field Testing for Glaucoma 满足指南推荐的青光眼视野测试的前负荷方法:时间和成本。
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 10.1016/j.ogla.2025.04.003
Henrietta Wang MPH , Katherine Masselos MBBS, FRANZCO , Jeremy C.K. Tan MD, FRANZCO , Nimesh B. Patel PhD , Ashish Agar MBBS, PhD , Michael Kalloniatis PhD , Jack Phu PhD

Purpose

To measure the time and clinical resources taken to obtain 6 reliable visual field (VF) tests for glaucoma in a glaucoma clinic.

Design

Longitudinal, prospective study in a glaucoma clinic.

Subjects

Ten thousand and ten SITA-Faster VF tests of 535 clinical subjects.

Methods

The cumulative number of VF tests with false-positive rates ≤15% for each eye of each subject was counted over time, and from there, the time to achieve 6 VF tests was determined and compared under frontloaded (2 VFs per eye per visit) and non-frontloaded (first VF within the frontloaded set) conditions. Costs to attain 6 VF tests were modeled.

Main Outcome Measures

Visual field counts and costs for attainment.

Results

Eight thousand nine hundred thirty-one of the 10 010 VF results had a false-positive rate of ≤15%. Approximately 90% of subjects had early or moderate open-angle glaucoma. When using the frontloading protocol, it took an average of 1.4 years to attain 6 reliable VFs for right and left eyes, respectively. For the non-frontloaded protocol, the average times were 2.6 and 2.5 years for the right and left eyes, respectively; 82.5% of right eyes and 85.4% of left eyes achieved 6 reliable VFs within 2 years when frontloaded, but the proportion was only 15.8% and 18.8% when non-frontloaded for right and left eyes, respectively. There was a significantly lower cost for obtaining 6 reliable VFs with frontloading than non-frontloading, due to fewer office visits.

Conclusions

A frontloading approach and SITA-Faster paradigm led to patients attaining 6 reliable VFs over 14 months sooner than non-frontloaded, with >84% receiving the recommended number of 6 tests in the first 2 years. The frontloading approach overall leads to savings in time and cost in comparison to non-frontloading for achieving 6 reliable VFs and thus potentially provides an avenue for earlier detection of glaucomatous change.

Financial Disclosure(s)

Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
目的:在青光眼诊所测量获得6项可靠的青光眼视野(VF)检查所需的时间和临床资源。设计:青光眼诊所的纵向前瞻性研究。受试者:535名临床受试者进行10010次SITA-Faster VF测试。方法:统计每位受试者每只眼睛假阳性率≤15%的VF试验累计次数,并从那里确定完成6次VF试验的时间,并比较前加载(每次就诊每只眼睛2次VF)和非前加载(前加载组内第一次VF)条件下的时间。对达到六次VF测试的费用进行了模拟。主要结果测量:VF计数和实现成本。结果:10010例VF结果中假阳性率≤15%的有8931例。大约90%的受试者有早期或中度开角型青光眼。当使用前加载协议时,平均需要1.4年才能分别为右眼和左眼获得6个可靠的vf。对于非前负荷方案,右眼和左眼的平均时间分别为2.6年和2.5年。右眼和左眼分别有82.5%和85.4%的人在2年内达到6个可靠VFs,而右眼和左眼在非前载情况下分别只有15.8%和18.8%。由于较少的办公室访问,与非前装相比,获得6个可靠的VFs的成本显着降低。结论:与非前负荷相比,前负荷方法和SITA-Faster模式使患者在14个月内更快地获得6个可靠的VFs,超过84%的患者在前2年内接受了推荐的6次测试。与非前载相比,前载方法总体上节省了时间和成本,可获得6个可靠的VFs,因此可能为早期发现青光眼变化提供了途径。
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引用次数: 0
Optic Nerve Imaging—From Disc Photos to OCT 视神经成像-从光盘照片到OCT。
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 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.
青光眼的诊断和监测需要对眼部结构特征进行精确的评估。眼成像技术的出现彻底改变了青光眼的临床管理和研究,使其成为当代实践的基石。在这篇综述中,我们总结了近200年来眼部成像技术的主要进展及其对青光眼的认识、诊断和监测的贡献。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。
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引用次数: 0
A Tree Inside the Eye: A Presenting Feature of Axenfeld-Rieger Syndrome 眼内树:Axenfeld-Rieger综合征的一个表现特征。
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 10.1016/j.ogla.2025.06.004
Zefeng Yang MD, Fei Li MD, PhD, Xiulan Zhang MD, PhD
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引用次数: 0
Two Decades of Angle-Closure Glaucoma Research 闭角型青光眼的二十年研究。
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 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.
原发性闭角型青光眼(PACD)仍然是全球视力发病率的重要原因,特别是在亚洲,到2050年,亚洲将有1,850万人患有原发性闭角型青光眼(PACG)。虽然青光眼视神经病变是最被广泛认可的视力丧失的原因,但PACD显著影响一系列前、后节结构和生理过程,如角膜内皮细胞丢失、小梁网结构改变和功能紊乱、晶状体混浊、虹膜缺血导致瞳孔扩大和视力下降、视网膜静脉闭塞、快速发展的压力相关性视网膜缺血、增加了手术的发病率,包括水误导和带状病变。在许多情况下,这种情况的管理将涉及角膜、白内障、屈光、青光眼、医学和外科视网膜专业知识和技术。作者和他们的研究网络之间的合作导致了一系列开创性的研究,这些研究重新定义了闭角的管理,减少了预防性激光虹膜切开术治疗无症状闭角的范围,并出现了透明晶状体摘除作为PACD的中心治疗干预措施。人口统计学和眼部危险因素有很好的文献记载,对影响PACD风险的分子遗传机制的理解正在迅速发展,通过使用多基因风险评分,在不久的将来提供了更个性化的风险分层的前景。这些为临床医生提供了一系列有效的工具,以改善他们的PACD患者和有PACD风险的人的预后。财务披露(S):作者在本文中讨论的任何材料中没有/作者没有专有或商业利益。
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引用次数: 0
Associations between Clustered Visual Field Progression and Locations of Disc Hemorrhages in Glaucoma 青光眼聚集性视野进展与椎间盘出血部位的关系:一项为期三年的前瞻性研究。
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 10.1016/j.ogla.2025.04.009
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

Purpose

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.
目的:在一项为期3年的前瞻性研究中,评估不同部位的椎间盘出血(DHs)对原发性开角型青光眼(POAG)患者聚集性视野(VF)进展的影响。设计:前瞻性、多中心队列研究。参与者:诊断为POAG且眼压(IOP)≤18 mmHg且接受前列腺素类似物单药治疗的患者。方法:VF测试,IOP测量,眼底摄影,光学相干断层扫描(OCT)扫描,为期3年。DH位置分为上象限、下象限、颞象限和鼻象限。VF又分为上、下、中央区,中央VF又分为上中央区和下中央区。采用随机截距和斜率的多变量线性混合效应模型,分析了特定位置DH历史与聚类总偏差(TD)渐进变化的关系。主要结局指标:DH位置与聚集性VF进展率之间的关系。结果:109例患者186只眼发生DH 61只眼(32.8%)。分别观察19眼、31眼、21眼和2眼的上、下、颞和鼻腔DH。更快的上TD斜率与下DH显著相关(P=0.032),但与上DH或时间DH无关。更快的下道TD斜率与较差的下道基线TD值显著相关(P=0.009),与较高的DH值略有相关(P=0.053),但与较低的或时间的DH值无关。更快的中央TD斜率与时间DH显著相关(结论:DH的位置与POAG患者相应的聚集性VF进展密切相关。颞部和下壁DH都是中枢性心室颤动进展的危险因素。
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引用次数: 0
Intraocular Pressure Matters 眼压很重要。
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 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.
迄今为止,来自多个随机对照试验的证据表明,有效的降低眼压(IOP)治疗可显著降低青光眼在疾病所有阶段进展的风险。IOP的变化对视神经头(ONH)的承重结缔组织以及ONH和视网膜的上覆神经血管组织有重大影响。最初的治疗目标是将IOP降低25%到35%,在晚期患者可能会降低更多,这有助于防止病情恶化。此外,通过尽量减少昼夜和长期波动来维持稳定的IOP可能进一步加强疾病控制并降低恶化的风险。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。
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引用次数: 0
Then and Now: Medical Therapy for Glaucoma 过去和现在:青光眼的药物治疗。
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 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.
自1985年美国青光眼协会成立以来,在过去的40年里,青光眼的医学治疗有了显著的发展。治疗领域经历了从有限的、耐受性差的治疗选择到复杂的以患者为中心的方法的转变,这些方法优先考虑疗效、便利性和改善生活质量。这一演变不仅受到药理学理解和药物传递创新的推动,也受到药物相关副作用如何导致不依不从和整体疾病负担的日益认识的推动。主要的发展包括从全身剂型向局部剂型的转变,这减轻了一些全身副作用;扩大药物类别,以替代流出途径为目标;每日一次给药方案的出现改善了患者的依从性;以及持续释放给药模式的发展,可能会减少或消除患者对日常参与的依赖。我们对眼表健康在长期治疗成功中至关重要的认识促使了无防腐剂配方的发展。从有限的治疗选择到医疗管理的进化范式转变,这四十年的历程证明了科学创新在寻求保护视力的同时也提高了慢性病患者的生活质量。随着微创青光眼手术等干预措施的发展,青光眼医疗管理的作用可能会发生变化,但目前仍是我们治疗算法的可靠基石。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。
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引用次数: 0
Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma CYP1B1变异对原发性先天性青光眼表型特征和治疗结果的影响
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 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 ,&nbsp;David Alves MD ,&nbsp;João Esteves-Leandro MD ,&nbsp;Marta Silva MD ,&nbsp;João Barbosa-Breda MD, PhD ,&nbsp;João Tavares-Ferreira MD ,&nbsp;Joana Araújo MD ,&nbsp;Susana Fernandes PhD ,&nbsp;Renata Oliveira MD ,&nbsp;António Melo MD ,&nbsp;Flávio Alves MD ,&nbsp;Augusto Magalhães MD ,&nbsp;José Cotta MD ,&nbsp;Sérgio Estrela-Silva MD","doi":"10.1016/j.ogla.2025.04.012","DOIUrl":"10.1016/j.ogla.2025.04.012","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Purpose&lt;/h3&gt;&lt;div&gt;To identify &lt;span&gt;&lt;span&gt;CYP1B1&lt;/span&gt;&lt;/span&gt;&lt;span&gt; variants in primary congenital glaucoma (PCG) patients from Northern Portugal and examine genotype–phenotype correlations.&lt;/span&gt;&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Design&lt;/h3&gt;&lt;div&gt;Cross sectional observational study.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Participants&lt;/h3&gt;&lt;div&gt;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.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;Demographic and clinical data were collected. &lt;em&gt;CYP1B1&lt;/em&gt;&lt;span&gt; variants were screened using DNA sequencing. A next-generation sequencing (NGS) glaucoma panel was performed in patients with heterozygous or absent &lt;/span&gt;&lt;em&gt;CYP1B1&lt;/em&gt; variants in the screening. Genotype–phenotype correlations were assessed by comparing clinical characteristics between patients with identified biallelic plausible disease-causing variants in &lt;em&gt;CYP1B1&lt;/em&gt; variants and those with negative genetic testing results.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Main Outcome Measures&lt;/h3&gt;&lt;div&gt;&lt;em&gt;CYP1B1&lt;/em&gt;&lt;span&gt; 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).&lt;/span&gt;&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;&lt;span&gt;Sixty-six unrelated probands and 5 affected relatives (133 eyes) were analyzed. Two plausible disease-causing &lt;/span&gt;&lt;em&gt;CYP1B1&lt;/em&gt; variants were identified in 60.6% (43/71) of patients. Nineteen distinct &lt;em&gt;CYP1B1&lt;/em&gt; 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 &lt;em&gt;CYP1B1&lt;/em&gt; variants (n = 43) showed significantly higher rates of bilateral disease (100% vs. 68%, &lt;em&gt;P&lt;/em&gt; &lt; 0.001), earlier disease onset (median 0 vs. 5.5 months, &lt;em&gt;P&lt;/em&gt; &lt; 0.001), poorer final BCVA (median 0.5 vs. 0.25 logarithm of the minimum angle of resolution, &lt;em&gt;P&lt;/em&gt; = 0.025), higher IOP at last follow-up (median 16 vs. 12 mmHg, &lt;em&gt;P&lt;/em&gt; &lt; 0.001), and greater need for surgical interventions (median 2 vs. 1, &lt;em&gt;P&lt;/em&gt; = 0.014) and IOP-lowering medications (median 2 vs. 0, &lt;em&gt;P&lt;/em&gt; = 0.005). Next-generation sequencing testing in &lt;em&gt;CYP1B1&lt;/em&gt;-negative patients identified 3 novel heterozygous variants of uncertain significance in the TEK gene.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusions&lt;/h3&gt;&lt;div&gt;Primary congenital glaucoma patients from Northern Portugal with &lt;em&gt;CYP1B1&lt;/em&gt; variants are more likely to present with bilateral disease, earlier onset, and a more severe clinical phenotype, suggesting a strong genotype–phenotype correlation.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Financial Disclosure(s)&lt;/h3&gt;&lt;div&gt;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}
引用次数: 0
Meaningful Patient Partnerships 有意义的患者伙伴关系:青光眼手术患者观点和共同决策的定性研究。
IF 3.2 Q1 OPHTHALMOLOGY Pub Date : 2025-09-01 DOI: 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.
目的:以患者为中心的护理是成功的临床结果和有意义的医患关系的关键。因此,全面了解患者的观点对于调整临床医生的重点和患者的目标至关重要。然而,随着微创青光眼手术设备的出现,我们对患者对青光眼手术的看法和参与手术决策的理解并没有跟上该领域治疗的快速发展,也没有向早期手术发展。本研究的目的是通过半结构化访谈的定性分析,了解青光眼患者在考虑青光眼手术时的观点和优先事项。设计:定性研究。参与者:被诊断为青光眼的个体,18岁以上,能够用英语进行有效沟通。对40名参与者进行了访谈:23名参与者接受了青光眼手术,17名没有。方法:采用与青光眼患者和外科医生协商制定的访谈指南,通过电话进行访谈。该队列的抽样是有目的的,以确保年龄、性别、社会经济地位、偏远地区、青光眼严重程度、诊所设置和治疗史的代表性。反复分析转录本,以确定与青光眼手术和参与决策有关的关键主题。主要结果测量:手术感知和受累主题,包括青光眼手术信心的障碍和桥梁。结果:确定了6个关键主题:(1)患者感觉匆忙;(二)患者查询信息的责任;(3)焦虑潜流;(4)对手术的认知受对疾病及其治疗模式的理解和期望的影响;(五)对外科医生的信任,对手术充满信心;(6)通过理解替代方案来授权。患者参与的主要障碍包括患者焦虑,时间压力(真实的或感知的),以及感知到的干预紧迫性。结论:青光眼手术的共同决策仍然是理想的。本研究为患者对青光眼手术的看法提供了有价值的见解,有助于为以患者为中心的护理提供信息。提出了易于应用的“实践点”,以优化患者参与和授权。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":"Meaningful Patient Partnerships","authors":"Zayn Al-Timimi BMed, MD ,&nbsp;Samrat Sarkar BOptom, MAppSc ,&nbsp;Sapna Nand BAppSc(Orth) ,&nbsp;Simon E. Skalicky MBBS, PhD ,&nbsp;Sartaj Sandhu MBBS ,&nbsp;Hamish Dunn MBBS, PhD ,&nbsp;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}
引用次数: 0
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Ophthalmology. Glaucoma
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