Ophthalmology. Glaucoma最新文献

{"title":"Obstructive Sleep Apnea as a Potentiator of Primary Open Angle Glaucoma and Necessity for Interventional Therapy.","authors":"Pranav Vasu, Isabella V Wagner, P Connor Lentz, Priyanka Gumaste, Yazan Abubaker, Bryan C H Ang, Abhimanyu S Ahuja, Emily Dorairaj, Ibrahim Qozat, Darby D Miller, Syril Dorairaj","doi":"10.1016/j.ogla.2025.05.005","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.05.005","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the rate of progression of primary open-angle glaucoma (POAG) in patients with obstructive sleep apnea (OSA) compared to non-OSA mild-moderate POAG comparators and to assess the utilization of surgical and laser intervention.</p><p><strong>Design: </strong>A retrospective cohort study of the TriNetX US Collaborative network was conducted by analyzing international electronic health record (EHR) data from January 2004 to October 2024.</p><p><strong>Participants: </strong>Patients in the TriNetX US Collaborative Network with a diagnosis of mild-moderate POAG, stratified with respect to OSA status.</p><p><strong>Methods: </strong>Patients were assessed for outcomes at 3-, 5-, and 10 years. Propensity score matching (PSM) was conducted between cohorts matched for baseline demographics, comorbidities, and medication use. Odds ratios (OR) and 95% confidence intervals (CI) were subsequently calculated.</p><p><strong>Main outcome measures: </strong>Risk of development of severe POAG.</p><p><strong>Results: </strong>After PSM, 5,277 patients with, and 5,277 patients without OSA were included in final analysis. At 3 (OR 2.791, 95% CI: 2.289 - 3.403), 5 (OR 2.300, 95% CI: 1.947 - 2.717), and 10 years (OR: 2.198, 95% CI: 1.873 - 2.578), the OSA cohort demonstrated significantly higher odds of developing severe POAG compared to the non-OSA comparators. Secondary outcomes of minimally-invasive glaucoma surgery (MIGS) and trabeculectomy surgery yielded no significant difference between both cohorts (P > 0.05) at all follow-up times. However, laser therapy and tube shunt surgery demonstrated a significantly greater incidence in the OSA cohort at each time point.</p><p><strong>Conclusions: </strong>The rate of glaucoma surgery appears similar between POAG patients with and without OSA, despite those with OSA demonstrating a greater risk for rapid progression and vision loss. Future practice patterns should pay special attention to OSA patients and consider offering more aggressive or earlier intervention, which may aid in limiting disease progression.</p>","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144614","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 rate of failure of trabeculectomy and tube shunt surgery in eyes with uveitic glaucoma and ocular hypertension: The purpose of this study is to look at the outcomes of trabeculectomy and tube shunt surgery in a large cohort of patients with uveitis.","authors":"Sylvia L Groth, Craig W Newcomb, Wei Yang, Abhishek Payal, Hosne Begum, Naira Khachatryan, R Oktay Kaçmaz, Kurt A Dreger, James T Rosenbaum, H Nida Sen, Eric B Suhler, Jennifer E Thorne, Nirali P Bhatt, C Stephen Foster, Douglas A Jabs, Grace A Levy-Clarke, Jeanine M Buchanich, Gui-Shuang Ying, John H Kempen, Sapna Gangaputra","doi":"10.1016/j.ogla.2025.05.004","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.05.004","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the incidence of failure of trabeculectomy vs. tube shunt glaucoma surgery in eyes of patients with uveitis.</p><p><strong>Design: </strong>Multi-center retrospective cohort study.</p><p><strong>Participants: </strong>Among 356 eyes of 288 patients with noninfectious inflammatory eye disease undergoing first incisional glaucoma surgery using one of the techniques, 244 eyes had tube shunts (TS) and 112 eyes had trabeculectomy augmented with mitomycin-C (Trab-MMC).</p><p><strong>Methods: </strong>Standardized chart review was used to collect clinical data over time retrospectively. Cox regression analyses with adjustment for propensity score and inter-eye correlations were performed to compare the incidence of failure of glaucoma surgery between TS and Trab-MMC.</p><p><strong>Main outcome measures: </strong>Failure of glaucoma surgery of the first five years postoperatively, defined as: (1) IOP≤ 5 mmHg or >21 mmHg at two consecutive visits at least 90 days apart beginning three months after surgery; or (2) reoperation; or (3) complete blindness (no light perception).</p><p><strong>Results: </strong>The median age was 40.3 years (IQR 13.4-57.3) in the TS group and 44.2 years (IQR 29.0-58.9) in the Trab-MMC group. The median pre-glaucoma surgery IOP was 29.0 mm Hg (IQR 21-35.5) in the TS group and 30.0 mm Hg (IQR 20-38) in the Trab-MMC group. Anterior uveitis was most common location of primary inflammation in both the TS group (52.5%) and Trab-MMC group (55.4%). Failure was observed in the TS group in 23.5%, 27.1% and 30.8% cumulatively through 12, 24, and 36 months respectively vs. 16.1%, 25.6% and 30.0% respectively in the Trab-MMC group. In the propensity score adjusted Cox regression analysis, there was no significant difference in failure incidence rate between the TS and trab-MMC groups (adjusted hazard ratio 1.08, 95% CI 0.65-1.78, p=0.77). Success without requirement for IOP-lowering medicines was observed more frequently in the Trab-MMC group.</p><p><strong>Conclusions: </strong>TS and Trab-MMC fail frequently with similar incidences when done as the first glaucoma surgery among eyes with uveitis over 5 years of follow-up, but there were more complete successes in the Trab-MMC group compared to the TS group at 12, 24 and 36 months.</p>","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144616","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":"Milky Aqueous Humor.","authors":"Tarannum Mansoori, Mantravadi Lakshmi Karthika","doi":"10.1016/j.ogla.2025.04.007","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.04.007","url":null,"abstract":"","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095945","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, David Alves, João Esteves-Leandro, Marta Silva, João Barbosa-Breda, João Tavares-Ferreira, Joana Araújo, Susana Fernandes, Renata Oliveira, António Melo, Flávio Alves, Augusto Magalhães, José Cotta, Sérgio Estrela-Silva","doi":"10.1016/j.ogla.2025.04.012","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.04.012","url":null,"abstract":"<p><strong>Purpose: </strong>To identify CYP1B1 variants in primary congenital glaucoma (PCG) patients from Northern Portugal and examine genotype-phenotype correlations.</p><p><strong>Design: </strong>Cross-sectional observational study.</p><p><strong>Participants: </strong>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.</p><p><strong>Methods: </strong>Demographic and clinical data were collected. CYP1B1 variants were screened using DNA sequencing. A next-generation sequencing (NGS) glaucoma panel was performed in patients with heterozygous or absent CYP1B1 variants in the screening. Genotype-phenotype correlations were assessed by comparing clinical characteristics between patients with identified biallelic plausible disease-causing variants in CYP1B1 variants and those with negative genetic testing results.</p><p><strong>Main outcome measures: </strong>CYP1B1 variants, gender, laterality, age at diagnosis, age at first surgery, number of surgical procedures, number of IOP-lowering medications, IOP at last follow-up, and final best-corrected visual acuity (BCVA).</p><p><strong>Results: </strong>Sixty-six unrelated probands and 5 affected relatives (133 eyes) were analyzed. Two plausible disease-causing CYP1B1 variants were identified in 60.6% (43/71) of patients. Nineteen distinct CYP1B1 variants were identified, including four 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 CYP1B1 variants (n=43) showed significantly higher rates of bilateral disease (100% vs 68%, p <0.001), earlier disease onset (median 0 vs 5.5 months, p < 0.001), poorer final BCVA (median 0.5 vs 0.25 logMAR, p = 0.025), higher IOP at last follow-up (median 16 vs 12 mmHg, p < 0.001), greater need for surgical interventions (median 2 vs 1, p = 0.014) and IOP-lowering medications (median 2 vs 0, p = 0.005). NGS testing in CYP1B1-negative patients identified three novel heterozygous variants of uncertain significance in the TEK gene.</p><p><strong>Conclusions: </strong>PCG patients from Northern Portugal with CYP1B1 variants are more likely to present with bilateral disease, earlier onset, and a more severe clinical phenotype, suggesting a strong genotype-phenotype correlation.</p>","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","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}

{"title":"Loss to follow-up and risk of incident blindness among patients with glaucoma in the IRIS® Registry (Intelligent Research in Sight).","authors":"Andrew M Williams, Hai-Wei Liang, Hsing-Hua Sylvia Lin","doi":"10.1016/j.ogla.2025.05.001","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.05.001","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the association between loss to follow-up (LTFU) and risk of incident blindness among a national registry cohort of patients with primary open-angle glaucoma (POAG).</p><p><strong>Design: </strong>Retrospective longitudinal cohort study.</p><p><strong>Participants: </strong>Patients with a POAG diagnosis who had at least two visual acuity (VA) measures documented in the IRIS Registry (Intelligent Research in Sight) in both 2014 and 2019.</p><p><strong>Methods: </strong>LTFU was defined as a calendar year or more without an encounter. Univariable and multivariable robust log-Poisson regression models were used to estimate the relative risk (RR) and 95% confidence interval (CIs) of incident blindness associated with intervals of LTFU as the primary exposure of interest. Effect modification by baseline characteristics on the association between LTFU and incident blindness was also assessed.</p><p><strong>Main outcome measures: </strong>Incident blindness in one or both eyes (VA ≤20/200) in 2019 among patients who were not blind in 2014.</p><p><strong>Results: </strong>Among 149,172 patients, incident monocular blindness occurred in 6,338 (4.2%) and incident binocular blindness occurred in 691 (0.5%) over the 6-year period. While most patients maintained follow up every year (90%), 8.8% were LTFU for 1-2 years, and 1.1% were LTFU for 3-4 years. Patients with LTFU had greater risk of blindness. In an adjusted model that accounted for age, sex, race and ethnicity, insurance, smoking status, glaucoma severity, baseline intraocular pressure, baseline cup-to-disc ratio, and history of glaucoma surgery, risk of incident monocular blindness was greater among patients with a lapse of 1-2 years (adjusted RR [aRR]=1.19, 95% CI: 1.05-1.35) or a lapse of 3-4 years (aRR=2.17, 95% CI: 1.66-2.78) compared to patients with no lapse in care. Race and ethnicity demonstrated a significant effect modification in the association between the longest lapse between encounters and the risk of blindness (P=0.02). The risk of incident blindness after a lapse of 3-4 years (compared to no lapse) was higher among Black patients (aRR=3.12, 95% CI: 2.06-4.76) than among White patients (aRR=1.93, 95% CI: 1.37-2.73). No effect modifications were identified by other baseline variables.</p><p><strong>Conclusions: </strong>LTFU is an independent risk factor for incident blindness among patients with POAG. Lapses in care are particularly consequential for Black patients. Efforts to reduce LTFU may mitigate preventable glaucoma blindness.</p>","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041863","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-site trabeculotomy versus gonioscopy-assisted transluminal trabeculotomy in the treatment of primary congenital glaucoma: a randomized prospective study.","authors":"Reem M Aboulhassan, Yasmine M ElSayed, Amanne Esmael, Ghada Gawdat, Ahmed ElKateb, Hala ElHilali","doi":"10.1016/j.ogla.2025.04.013","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.04.013","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to compare the outcomes of two-site rigid-probe trabeculotomy (RPT) compared to gonioscopy assisted two-site trabeculotomy (GATT) in the treatment of primary congenital glaucoma (PCG).</p><p><strong>Design: </strong>A prospective randomized controlled study SUBJECTS: The study included 77 eyes of 60 PCG patients with clear corneas all aged <5 years.</p><p><strong>Methods: </strong>Patients were randomized to undergo either two-site trabeculotomy using a rigid probe or GATT using a 5/0 polypropylene suture. Success was defined as achieving a final intraocular pressure (IOP) <18 mmHg without (complete) or with medications (qualified).</p><p><strong>Main outcome measures: </strong>Primary outcomes were reduction of IOP and medications. Secondary outcomes were complications and success rates. Anterior segment OCT (AS-OCT) was performed to compare changes in angle morphology.</p><p><strong>Results: </strong>The two-site RPT group included 39 eyes, and the GATT group included 38 eyes. There was a significant reduction in IOP and glaucoma medications at 1, 3, 6, 9 and 12 months postoperatively in both groups (p<0.001) with no significant difference in IOP or glaucoma medications between both groups at any follow-up. At the final follow-up, there was a 49% ± 13% IOP reduction in the two-site RPT trabeculotomy group compared to 44% ± 25% in the GATT group (p=0.2). Success was achieved in all eyes in the RPT group and in 95% in the GATT group. Hyphema was the most frequently observed complication; with no vision-threatening complications in either group. Post-operative AS-OCT findings included angle widening, trabecular shelf, and peripheral anterior synechia.</p><p><strong>Conclusion: </strong>Circumferential trabeculotomy using ab-interno GATT or ab-externo two-site trabeculotomy yielded comparable results in terms of safety and efficacy. GATT has the advantage of sparing the conjunctiva which may be needed for future interventions.</p>","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043051","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":"Outcomes of Preserflo MicroShunt Implantation in Refractory Childhood Glaucoma Following Ahmed Glaucoma Valve Surgery.","authors":"J García-Bardera, J Garcia-Feijoo, L Morales-Fernández, C Heredia-Pastor, A Ponce-de-León-Miguel, M García-Bermúdez, Marco Antonio Pascual-Santiago, B Burgos-Blasco, J M Martínez-de-la-Casa, J Garcia-Sánchez","doi":"10.1016/j.ogla.2025.04.011","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.04.011","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the clinical outcomes of Preserflo MicroShunt (PMS) implantation with mitomycin C (MMC) in managing refractory childhood glaucoma previously treated with Ahmed Glaucoma Valve (AGV).</p><p><strong>Design: </strong>Single-arm retrospective cohort study.</p><p><strong>Participants: </strong>23 eyes of 22 patients with refractory childhood glaucoma and a history of AGV implantation.</p><p><strong>Methods: </strong>All patients underwent PMS implantation with intraoperative MMC (0.04% for 2.5 minutes). Primary endpoints included intraocular pressure (IOP) reduction, reduction in antiglaucomatous medications, and surgical success. 'Complete success' was defined as achieving target IOP without medications; 'qualified success' allowed for medications. Safety parameters included intra- and postoperative complications and the need for further interventions.</p><p><strong>Main outcome measures: </strong>IOP reduction, antiglaucomatous medications reduction, and surgical success rates.</p><p><strong>Results: </strong>Median follow-up was 23 months (IQR: 18-41). Mean baseline IOP was 27.0 ± 4.3 mmHg with 3.2 ± 0.5 medications. At one year, IOP decreased to 14.1 ± 4.4 mmHg (-47.0%) with 0.4 ± 1.0 medications, and to 16.9 ± 3.6 mmHg (-40.2%) with 1.2 ± 1.5 medications at two years. Overall success rates for ≥20% IOP reduction were 91.3% at one year (69.9% complete success) and 72.7% at two years (45.5% complete success); for ≥30% reduction, they were 82.6% and 63.6%, respectively. During follow-up, one case of device extrusion was observed at 3 months, and another required surgical revision at 5 months.</p><p><strong>Conclusions: </strong>PMS implantation with MMC offer a valuable surgical option for managing refractory childhood glaucoma following AGV. The procedure achieved substantial reductions in both IOP and medication burden. Larger studies with extended follow-up are recommended to confirm its long-term efficacy.</p>","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031280","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":"Microspherophakia: Kugel Fountain Presentation.","authors":"Devendra Maheshwari, Shivam Gupta, Madhavi Pillai","doi":"10.1016/j.ogla.2025.03.004","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.03.004","url":null,"abstract":"","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065233","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":"Prevalence of MYOC mutations in a cohort of juvenile open-angle glaucoma (JOAG) patients from Sub-Saharan Africa.","authors":"Olusola Olawoye, Brian P Young, Angela W Nyunt, Oluwatoyin F Fafowora, Magdalene Ajani, Brendan A Creemer, Ben R Roos, Anne L Coleman, Michael B Gorin, Michael A Hauser, Todd E Scheetz, Adeyinka Ashaye, John H Fingert","doi":"10.1016/j.ogla.2025.04.010","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.04.010","url":null,"abstract":"<p><strong>Purpose: </strong>Determine the prevalence and the role of myocilin (MYOC) gene mutations in a sub-Saharan population of juvenile open-angle glaucoma (JOAG) patients DESIGN: Prospective case-control PARTICIPANTS: 45 JOAG patients and 41 normal control subjects from the ophthalmology clinics of the University College Hospital Ibadan, Nigeria.</p><p><strong>Methods: </strong>DNA was tested for MYOC coding sequence mutations using Sanger sequencing. Identified mutations were evaluated for pathogenicity by 1) ClinGen scoring 2) assessing prevalence in large public databases of patients with African ancestry (gnomAD and 1000 Genomes); and 3) Mutation analysis algorithms (PolyPhen, SIFT, Blosum62, MutationTaster, CADD, and AlphaMissense). The prevalence of variants was compared between JOAG patients and normal controls from Ibadan using a mutation burden analysis using SKAT-O.</p><p><strong>Main outcome measures: </strong>Sanger DNA sequencing data indicating the presence or absence of glaucoma-causing mutations in the MYOC gene.</p><p><strong>Results: </strong>A total of 10 instances of 4 MYOC variants were detected. A p.Pro370Leu variant, which has been previously categorized by the ClinGen as Pathogenic, was detected in three (6.7%) of 45 JOAG probands. A p.Arg470Cys MYOC variant, previously categorized a Variant of Unknown Significance, was identified in one (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, while p.Glu352Lys was present at a frequency >1%, which is inconsistent with pathogenicity. Finally, synonymous missense variant, p.Glu396Glu, was also detected. Five of six mutation analysis algorithms supported the pathogenicity of the p.Pro370Leu and p.Arg470Cys variants, while slightly fewer (4 of 6) suggested that p.Glu352Lys is pathogenic.</p><p><strong>Conclusions: </strong>MYOC mutations are the most common known cause of JOAG in populations of European ancestry. Our case-control study estimated the prevalence of pathogenic MYOC mutations to be 8.9% in an African population from Nigeria. MYOC mutations are the most common known cause of JOAG in sub-Saharan Africa, however, they account for a minority of cases.</p>","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-23","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":"Associations between Clustered Visual Field Progression and Locations of Disc Hemorrhages in Glaucoma: A Three-year Prospective Study.","authors":"Tadamichi Akagi, Takeo Fukuchi, Tomomi Higashide, Sachiko Udagawa, Shinji Ohkubo, Kazuhisa Sugiyama, Hidenobu Tanihara, Makoto Araie, Goji Tomita, Chota Matsumoto, Atsuo Tomidokoro, Masanori Hangai, Hisashi Kawata, Maya Inai, Yuki Tanaka","doi":"10.1016/j.ogla.2025.04.009","DOIUrl":"https://doi.org/10.1016/j.ogla.2025.04.009","url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Design: </strong>A prospective, multicenter cohort study.</p><p><strong>Participants: </strong>Patients diagnosed with POAG and intraocular pressure (IOP) ≤18 mmHg undergoing prostaglandin analog monotherapy.</p><p><strong>Methods: </strong>VF testing, IOP measurements, fundus photography, and optical coherence tomography (OCT) scans were conducted quarterly over a 3-year period. DH 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).</p><p><strong>Main outcome measures: </strong>Association between DH location and the rate of clustered VF progression.</p><p><strong>Results: </strong>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. 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=0.032) 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 33 eyes, the number of DH events did not show an additive effect on corresponding clustered VF progression.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":56368,"journal":{"name":"Ophthalmology. Glaucoma","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-23","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}