Ophthalmology. Glaucoma最新文献

{"title":"Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa","authors":"Olusola Olawoye MBBS, PhD ,&nbsp;Brian P. Young BS ,&nbsp;Angela W. Nyunt BS ,&nbsp;Oluwatoyin F. Fafowora MD, PhD ,&nbsp;Magdalene Ajani MBBS, FWACS ,&nbsp;Tarela Sarimiye MBBS, FWACS ,&nbsp;Brendan A. Creemer BS ,&nbsp;Ben R. Roos BS ,&nbsp;Anne L. Coleman MD, PhD ,&nbsp;Michael B. Gorin MD, PhD ,&nbsp;Michael A. Hauser PhD ,&nbsp;Todd E. Scheetz PhD ,&nbsp;Adeyinka Ashaye MBBS, FWACS ,&nbsp;John H. Fingert MD, PhD","doi":"10.1016/j.ogla.2025.04.010","DOIUrl":"10.1016/j.ogla.2025.04.010","url":null,"abstract":"<div><h3>Purpose</h3><div><span>Determine the prevalence and the role of myocilin (</span><em>MYOC</em><span>) gene mutations in a sub-Saharan population of patients with juvenile open-angle glaucoma (JOAG).</span></div></div><div><h3>Design</h3><div>Prospective case-control.</div></div><div><h3>Participants</h3><div>Forty-five patients with JOAG and 41 normal control subjects from the ophthalmology clinics of the University College Hospital Ibadan, Nigeria.</div></div><div><h3>Methods</h3><div>DNA was tested for <em>MYOC</em><span><span> coding sequence mutations using Sanger sequencing. Identified mutations were evaluated for </span>pathogenicity using ClinGen scoring; assessing prevalence in large public databases of patients with African ancestry (gnomAD and 1000 Genomes); and mutation analysis algorithms: PolyPhen, Sorting Intolerant from Tolerant (SIFT), BLOSUM62, MutationTaster, Combined Annotation Dependent Depletion (CADD), and AlphaMissense. The prevalence of variants was compared between patients with JOAG and normal controls from Ibadan using a mutation burden analysis using Sequence Kernel Association Test (SKAT-O).</span></div></div><div><h3>Main Outcome Measures</h3><div><span>Sanger DNA sequencing data indicating the presence or absence of glaucoma-causing mutations in the </span><em>MYOC</em> gene.</div></div><div><h3>Results</h3><div>A total of 10 instances of 4 <em>MYOC</em><span> variants were detected. A p.Pro370Leu variant, which has been previously categorized by the ClinGen as pathogenic, was detected in 3 (6.7%) of 45 JOAG probands. A p.Arg470Cys </span><em>MYOC</em><span><span> variant, previously categorized a variant of unknown significance, was identified in 1 (2.2%) of 45 JOAG probands. A p.Glu352Lys variant, previously categorized as benign, was detected in 2 (4.4%) of JOAG probands. Both the p.Pro370Leu and p.Arg470Cys variants were absent from control subjects and large public databases, whereas p.Glu352Lys was present at a frequency &gt; 1%, which is inconsistent with pathogenicity. Finally, synonymous </span>missense variant, p.Glu396Glu, was also detected. A total of 5 of 6 mutation analysis algorithms supported the pathogenicity of the p.Pro370Leu and p.Arg470Cys variants, whereas slightly fewer (4 of 6) suggested that p.Glu352Lys is pathogenic.</span></div></div><div><h3>Conclusions</h3><div>Myocilin mutations are the most common known cause of JOAG in populations of European ancestry. Our case-control study estimated the prevalence of pathogenic <em>MYOC</em> mutations to be 8.9% in an African population from Nigeria. Myocilin mutations are the most common known cause of JOAG in sub-Saharan Africa; however, they account for a minority of cases.</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 450-456"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065319","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}

{"title":"Sulcus Tube in a Patient with Axenfeld-Rieger Syndrome","authors":"Lauren S. Blieden MD ,&nbsp;Peter T. Chang MD","doi":"10.1016/j.ogla.2025.05.003","DOIUrl":"10.1016/j.ogla.2025.05.003","url":null,"abstract":"","PeriodicalId":19519,"journal":{"name":"Ophthalmology. Glaucoma","volume":"8 5","pages":"Page e15"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144276827","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}

{"title":"The Frontloading Approach to Meet Guideline-Recommended Visual Field Testing for Glaucoma","authors":"Henrietta Wang MPH ,&nbsp;Katherine Masselos MBBS, FRANZCO ,&nbsp;Jeremy C.K. Tan MD, FRANZCO ,&nbsp;Nimesh B. Patel PhD ,&nbsp;Ashish Agar MBBS, PhD ,&nbsp;Michael Kalloniatis PhD ,&nbsp;Jack Phu PhD","doi":"10.1016/j.ogla.2025.04.003","DOIUrl":"10.1016/j.ogla.2025.04.003","url":null,"abstract":"<div><h3>Purpose</h3><div>To measure the time and clinical resources taken to obtain 6 reliable visual field (VF) tests for glaucoma in a glaucoma clinic.</div></div><div><h3>Design</h3><div>Longitudinal, prospective study in a glaucoma clinic.</div></div><div><h3>Subjects</h3><div>Ten thousand and ten SITA-Faster VF tests of 535 clinical subjects.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Main Outcome Measures</h3><div>Visual field counts and costs for attainment.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>A frontloading approach and SITA-Faster paradigm led to patients attaining 6 reliable VFs over 14 months sooner than non-frontloaded, with &gt;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.</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 515-527"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041983","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}

{"title":"Optic Nerve Imaging—From Disc Photos to OCT","authors":"Joel S. Schuman MD ,&nbsp;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}

{"title":"A Tree Inside the Eye: A Presenting Feature of Axenfeld-Rieger Syndrome","authors":"Zefeng Yang MD,&nbsp;Fei Li MD, PhD,&nbsp;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}

{"title":"Two Decades of Angle-Closure Glaucoma Research","authors":"David Steven Friedman MD, PhD ,&nbsp;Tin Aung PhD ,&nbsp;Mingguang He PhD ,&nbsp;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 &gt;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}

{"title":"Associations between Clustered Visual Field Progression and Locations of Disc Hemorrhages in Glaucoma","authors":"Tadamichi Akagi MD, PhD ,&nbsp;Takeo Fukuchi MD, PhD ,&nbsp;Tomomi Higashide MD, PhD ,&nbsp;Sachiko Udagawa PhD ,&nbsp;Shinji Ohkubo MD, PhD ,&nbsp;Kazuhisa Sugiyama MD, PhD ,&nbsp;Hidenobu Tanihara MD, PhD ,&nbsp;Makoto Araie MD, PhD ,&nbsp;Goji Tomita MD, PhD ,&nbsp;Chota Matsumoto MD, PhD ,&nbsp;Atsuo Tomidokoro MD, PhD ,&nbsp;Masanori Hangai MD, PhD ,&nbsp;Hisashi Kawata MS ,&nbsp;Maya Inai MS ,&nbsp;Yuki Tanaka MS ,&nbsp;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> &lt; 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}

{"title":"Intraocular Pressure Matters","authors":"Sasan Moghimi MD,&nbsp;Christopher Girkin MD, MSPH,&nbsp;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}

{"title":"Then and Now: Medical Therapy for Glaucoma","authors":"Eydie Miller-Ellis MD ,&nbsp;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}

{"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}