BMC Ophthalmology最新文献

{"title":"Isolated ANCA-associated scleritis successfully treated with systemic rituximab; a case report and review of literature.","authors":"Mohammadreza Tahavvori, Sahba Fekri, Kiana Hassanpour, Mohammad-Mehdi Sadoughi, Mohammadali Javadi","doi":"10.1186/s12886-025-04027-6","DOIUrl":"10.1186/s12886-025-04027-6","url":null,"abstract":"<p><strong>Background: </strong>Necrotizing scleritis is one of the most destructive ocular manifestations of underlying systemic diseases that can lead to a variety of severe complications, including globe perforation or vision loss. Necrotizing scleritis can occur in various conditions, such as systemic vasculitis like Anti-Neutrophil Cytoplasmic Antibody (ANCA) and ANCA-Associated vasculitis (AAV), systemic autoimmune disorders, infections, or as a result of surgical procedures.</p><p><strong>Case presentation: </strong>In this case report, we present a patient with acute bilateral isolated necrotizing sclerokeratitis associated with positive c-ANCA without any manifestation of other organ involvement. A 52-year-old man with acute anterior bilateral necrotizing scleritis with diffuse areas of necrosis, thinning of the sclera, and the choroidal show was observed which was impending perforation on both sides. Systemic medications, including intravenous methylprednisolone and cyclophosphamide, and topical medications were administered. However, due to an incomplete response to these drugs, intravenous rituximab was initiated. Significant improvements in clinical manifestations were initiated after treatment with Rituximab.</p><p><strong>Conclusion: </strong>Our case highlights the importance of systemic rituximab therapy in treating isolated ANCA-associated necrotizing scleritis when initial immunosuppressive treatments are not fully effective.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"176"},"PeriodicalIF":1.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Critical analysis of macular hole repair techniques: a comprehensive systematic review and meta-analysis comparing internal limiting membrane flap and internal limiting membrane peeling for any size of macular hole.","authors":"Syed Muhammad Muneeb Akhtar, Syed Zia Saleem, Syed Ali Asad Rizvi, Areeba Fareed, Munazza Mumtaz, Shiza Saleem, Anusha Bai, Afsana Ansari Shaik, Robert Kirchoff, Muhammad Sohaib Asghar","doi":"10.1186/s12886-025-04011-0","DOIUrl":"10.1186/s12886-025-04011-0","url":null,"abstract":"<p><strong>Background: </strong>Macular holes (MHs) are a leading cause of visual impairment and blindness worldwide defined as a partial or full thickness anatomical defect in the fovea of the retina. ILM peeling is an effective surgical procedure to repair the defect. However, this approach lacks efficacy for larger macular holes. ILM flap is a novel technique with demonstrated efficacy for repair of larger defects.</p><p><strong>Objective: </strong>This systematic review and meta-analysis aims to compare the effectiveness of these two techniques in treating any size and type of MH.</p><p><strong>Methods: </strong>A comprehensive literature search was conducted in the PubMed, Medline, and Cochrane Library databases to identify the relevant articles. The primary outcome measures were MH closure rate and postoperative VA. The statistical power was ensured by performing heterogeneity, publication bias, sensitivity analysis, and subgroup analysis. Pooled odds ratios (ORs), mean differences (MD), and 95% confidence intervals (CIs) were calculated. All statistical analyses were performed using R Statistical Software and meta package v4.17-0.</p><p><strong>Results: </strong>A total of thirty-two studies, comprising nine RCTs and twenty three retrospective studies were included in this meta-analysis, which involved 1220 eyes in the ILM flap group and 1277 eyes in the ILM peeling group. The overall MH closure rate significantly favored ILM flap technique (OR = 2.47, CI = 1.58 to 3.87; P < 0.001; I²= 30%). The overall pooled result for postoperative VA, no significant difference was observed between the two surgical methods. However, it favored ILM flap technique on subgroup analysis based on study type and MH size specifically in the RCTS with macular hole size > 400 μm (MD = -0.13, 95% CI = -0.17 to -0.08, p < 0.01; I² = 13%), as well as on subgrouping based on follow-up duration (MD = -0.11, 95% CI = -0.14 to -0.08, p < 0.01; I² = 25%).</p><p><strong>Conclusion: </strong>ILM flap technique resulted in significantly better closure rate with all sizes of MHs, coupled with improved visual acuity in larger MHs and with follow-up duration.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"174"},"PeriodicalIF":1.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of autologous whole blood in surgery for full-thickness macular hole: a propensity score matching analysis.","authors":"Zhengbo Xu, Yuelin Wang, Youxin Chen","doi":"10.1186/s12886-025-04019-6","DOIUrl":"10.1186/s12886-025-04019-6","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic full-thickness macular hole (FTMH) is a vision-threatening disease treated by the \"gold standard\" pars planar vitrectomy followed by internal limiting membrane peeling. This conventional surgical approach, while yielding a promising 90% closure rate, has a low success rate in large macular holes. Autologous blood has been proven to significantly enhance the healing process and has been introduced into ophthalmic surgeries. The aim of this study is to compare visual and anatomical outcomes of full-thickness macular holes with and without the use of autologous whole blood.</p><p><strong>Methods: </strong>This retrospective study included 150 patients (150 eyes) diagnosed with FTMH and underwent primary surgery during 2020-2022. Patients with a minimum of 12 months follow-up were divided into whole blood (WB) group (n = 22) and control group (n = 128). An 1:3 propensity score matching (PSM) was performed based on sex, age, cataract history, diabetes, hypertension, injury, minimum linear diameter (MLD), basal diameter (BD) and preoperative best-corrected visual acuity (BCVA). Postoperative BCVA and optical coherence tomography (OCT) findings were collected for postoperative analysis.</p><p><strong>Results: </strong>After 1:3 PSM, 22 patients in WB group were matched to 66 patients in control group. The demographic characteristics showed no significant difference except for the MLD in WB group being significantly larger than control group: 762.50 ± 353.11 μm compared to 505.91 ± 193.52 μm (p = 0.003). Despite this unfavorable condition, all MHs were closed in the WB group, while in the control group 14 MHs (21.21%) remained open (p < 0.017). The WB group showed significantly better postoperative mean BCVA than control group (p = 0.016). Also, significantly more patients had improvement in BCVA by 0.2 logMAR or more after surgery in the WB group than in the control group (p = 0.05). After surgery with WB, a rugged retinal surface was observed in MHs larger than 1000 μm via OCT imaging.</p><p><strong>Conclusions: </strong>The incorporation of PSM can greatly reduce the bias incurred by confounders in this retrospective study. The adjuvant use of WB significantly improves the functional and anatomical outcomes after MH surgery. Especially in patients with large MHs, WB can precipitate the proliferation and migration of Müller cells which ensures foveal structure restoration.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"173"},"PeriodicalIF":1.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Choroidal microvascular dropout and its relationship to progression in primary open-angle and pseudoexfoliation glaucoma.","authors":"Jimin Park, Youn Hye Jo, Kyung Rim Sung","doi":"10.1186/s12886-025-03977-1","DOIUrl":"10.1186/s12886-025-03977-1","url":null,"abstract":"<p><strong>Background: </strong>To compare the longitudinal change of choroidal microvascular dropout (CMvD) and its relationship with glaucoma progression between primary open angle glaucoma (POAG) and pseudoexfoliation glaucoma (PXG).</p><p><strong>Methods: </strong>The analysis included 114 eyes of 114 patients, with 57 POAG and 57 PXG eyes matched by age and visual field (VF) mean deviation (MD). The angular circumference (AC) of CMvD was measured using the en-face choroidal layer images of optical coherence tomography angiography at baseline and the final follow-up. Progression of CMvD was defined as an increase in AC beyond measurement variability (-3.85° to + 3.28°) or the appearance of new CMvD during follow-up. Glaucoma progression was determined by MD change rate.</p><p><strong>Results: </strong>The prevalence of CMvD was significantly higher in POAG than in PXG eyes (68.4% vs. 43.9%, p = 0.008) at baseline. However, by the final visit, the difference in prevalence between the groups was not significant (68.4% vs. 56.1%, p = 0.178). During the study period, seven PXG eyes developed new CMvD. There was no significant difference in MD progression rate between the stable and progressed CMvD subgroups in POAG (-0.7 ± 0.8 dB/year vs. - 0.8 ± 0.5 dB/year, p = 0.715). In contrast, PXG eyes showed a significantly faster MD progression rate in the progressed CMvD subgroup than in those with stable CMvD subgroup (-0.4 ± 0.7 dB/year vs. - 1.2 ± 0.8 dB/year, p = 0.010).</p><p><strong>Conclusions: </strong>The progression of CMvD was more frequently observed in PXG eyes than POAG eyes and showed association with faster VF progression in PXG eyes.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"172"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11969982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Smoke-stack fluorescein leakage in a vitrectomised eye with proliferative diabetic retinopathy: a rare angiographic phenomenon.","authors":"Kanika Godani, Vishma Prabhu, Prathiba Hande, Priyanka Gandhi, Rupal Kathare, Ramesh Venkatesh","doi":"10.1186/s12886-025-03999-9","DOIUrl":"10.1186/s12886-025-03999-9","url":null,"abstract":"<p><strong>Background/aim: </strong>This case report aims to describe an unusual angiographic finding of smoke-stack leakage (SSL) in a vitrectomised eye of a patient with proliferative diabetic retinopathy (PDR).</p><p><strong>Case description: </strong>A 59-year-old male with a 17-year history of type 2 diabetes mellitus underwent fundus fluorescein angiography (FA) following vitrectomy for vitreous hemorrhage secondary to PDR. His visual acuity at the time of FA was 6/6 in both eyes. The examination focused on identifying neovascularization elsewhere (NVE) and analysing leakage patterns. FA revealed active NVEs in the left eye with late-phase leakage nasally and inferiorly to the optic disc, while the right eye exhibited a distinctive SSL pattern from residual proliferation. Interestingly, the leakage subsided in the late phase, leaving only staining of the residual fibrous tissue.</p><p><strong>Conclusion: </strong>The observed SSL in this vitrectomised eye underscores unique post-surgical dynamics of fluorescein diffusion. This case highlights the importance of recognizing altered leakage patterns in vitrectomised patients, which can impact the evaluation and management of retinal neovascularization in PDR.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"171"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11969991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Three-year outcomes of gonioscopy-assisted transluminal trabeculotomy for juvenile-onset primary open-angle glaucoma: a retrospective study.","authors":"Baiyu Hu, Suju Liu, Hanying Fan, Liuzhi Zeng","doi":"10.1186/s12886-025-03930-2","DOIUrl":"10.1186/s12886-025-03930-2","url":null,"abstract":"<p><strong>Objectives: </strong>This retrospective study evaluates the three-year efficacy and safety of gonioscopy-assisted transluminal trabeculotomy (GATT) in patients with juvenile-onset primary open-angle glaucoma (JOAG).</p><p><strong>Methods: </strong>A total of 26 patients (35 eyes) with juvenile-onset primary open-angle glaucoma (JOAG) were included in this single-center, retrospective study. Clinical records of patients who underwent gonioscopy-assisted transluminal trabeculotomy (GATT) were analyzed to assess intraocular pressure (IOP), the number of glaucoma medications, and complications, while anterior chamber angle changes were observed by gonioscopy. The follow-up period was up to 36 months.</p><p><strong>Results: </strong>At the time of surgery, the median age of the cohort was 26 years (range: 4-35 years), with a mean visual field deviation (MD) of -17.03 ± 8.67 dB. The mean intraocular pressure (IOP) was reduced from 29.89 ± 9.43 mmHg preoperatively (on 2.7 ± 0.7 glaucoma medications) to 15.70 ± 4.39 mmHg at 12 months (on 0.4 ± 0.9 medications), 15.27 ± 3.24 mmHg at 24 months (on 0.3 ± 0.6 medications), and 17.33 ± 3.37 mmHg at 36 months (on 0.5 ± 0.7 medications). Gonioscopic examinations indicated that peripheral anterior synechiae (PAS) primarily formed within the first 1-3 months and were fully established by 6 months, after which the extent of peripheral anterior synechiae (PAS) remained relatively stable. Kaplan-Meier survival analysis revealed complete and qualified success rates of 73.7% and 82.6% at 12 months, 73.7% and 76.7% at 24 months, 60.3% and 69.1% at 30 months, and 51.7% and 69.1% at 36 months, respectively. The cumulative total success proportion were 90.6% at 12 months, 96.7% at 18 months, 92.3% at 24 months, 86.4% at 30 months and 73.3% at 36 months.</p><p><strong>Conclusions: </strong>GATT is a safe and effective surgical option for JOAG, achieving sustained IOP reduction and favorable long-term success rates.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"170"},"PeriodicalIF":1.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11969925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective study of the effectiveness of scleral buckling under direct vision with operating lamp illumination in 17 cases of retinal detachment associated with retinal dialysis.","authors":"Shanyu Li, Dong Han, Xiaoxuan Wang, Li Li, Zhixia Dou, Xiujun Liu, Jie Zhang","doi":"10.1186/s12886-025-03996-y","DOIUrl":"10.1186/s12886-025-03996-y","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the effectiveness of scleral buckling under direct vision with the operating lamp illumination for the treatment of retinal detachment (RD) associated with retinal dialysis.</p><p><strong>Methods: </strong>A retrospective study was conducted on 17 selected cases of patients with monocular RD caused by retinal dialysis, representing 17 injured eyes. The patients were treated at the Hebei Eye Hospital from January 1, 2020, to December 31, 2022, which included 10 males (10 impacted eyes) and 7 females (7 impacted eyes), aged 12-39 years (mean: 25.24 ± 13.1 years). Scleral buckling was proposed for all patients as the recommended treatment plan, including both segmental scleral buckling and encircle buckle combined with radial buckling. Segmental buckling was performed in most of these cases while encircling buckling combined with radial buckling was indicated for severe RD cases with extensive dialysis at the ora serrata and serious retinal proliferation. After the surgeries, the patients were followed up once a month for 6 months, during which the corrected visual acuity, intraocular pressure, ultrasonographic results, slit-lamp examination results, and gonioscopy results of the patients were collected to evaluate the restoration progress of the retina.</p><p><strong>Results: </strong>The detached retinas were completely reset in position in all 17 patients in one single operation respectively, representing an operation success rate of 100%. Over the 6-month follow-up period, the retinas of all cases remained in place without recurrence of detachment, representing a retina restoration rate of 100%. No patients reported the serious complications commonly associated with RD, including high intraocular pressure, complicated cataracts, and choroidal hemorrhage.</p><p><strong>Conclusion: </strong>Scleral buckling under direct vision with an operating lamp illumination is safe and effective in the treatment of RD associated with retinal dialysis. In this technique, the operation is visually aided by magnified images that are the real, erect image of the retina, which makes the procedure relatively easy to perform. It has a lower requirement for previous training of the operator and operational instruments, which makes it easier to be adopted in the outpatient setting.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"169"},"PeriodicalIF":1.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11967071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phacoemulsification combined with trabecular meshwork-Schlemm canal-based minimally invasive glaucoma surgery in primary angle-closure glaucoma: a systematic review and meta-analysis.","authors":"Zige Fang, Yunhe Song, Ling Jin, Ying Han, Xiulan Zhang","doi":"10.1186/s12886-025-04005-y","DOIUrl":"10.1186/s12886-025-04005-y","url":null,"abstract":"<p><strong>Background: </strong>To summarize the efficacy and safety of the phacoemulsification with intraocular lens implantation (PEI) ± goniosynechialysis (GSL) + trabecular meshwork-Schlemm canal (TM-SC)-based minimally invasive glaucoma surgery (MIGS) in primary angle-closure glaucoma (PACG).</p><p><strong>Methods: </strong>A comprehensive literature search was conducted across seven electronic databases: PubMed, ScienceDirect, The Cochrane Library, Scopus, Embase, Ovid MEDLINE, and Web of Science. Studies focused on TM-SC-based MIGS with PEI for PACG were included in this review. The efficacy was assessed by the reduction in intraocular pressure (IOP) values and the decrease in the number of anti-glaucoma medications (AGMs), while safety was evaluated by incidence of complications.</p><p><strong>Results: </strong>Out of 5158 studies initially identified, this meta-analysis included 12 articles with a total of 633 eyes with PACG. At 12 months postoperatively, PEI ± GSL + TM-SC-based MIGS yielded an IOP decrease of 10.25 mmHg (95% CI: 7.06 to 13.43), PEI ± GSL + goniotomy yielded an IOP decrease of 13.10 mmHg (95% CI: 7.59 to 18.62), PEI ± GSL + gonioscopy-assisted transluminal trabeculotomy yielded an IOP decrease of 11.54 mmHg (95% CI: 7.18 to 15.90), and PEI ± GSL + trabecular micro-bypass stent yielded an IOP decrease of 3.94 mmHg (95% CI: 2.58 to 5.30). The most common complications were hyphema (16.3%) and IOP spike (7.4%). Specifically, the iStent group had the lowest incidence of each complication.</p><p><strong>Conclusions: </strong>PEI ± GSL + TM-SC-based MIGS is effective in reducing IOP and medication burden while maintaining a favorable safety profile in PACG. More randomized controlled trials are required to support this therapeutic recommendation.</p><p><strong>Registration: </strong>This meta-analysis was registered on PROSPERO (registration number: CRD42024583864).</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"168"},"PeriodicalIF":1.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The diagnostic value of platelet-to-neutrophil ratio in diabetic macular edema.","authors":"Huixin Sun, Yao Li, Shihan Liu, Chunxing Pan, Danting Li, Xiyuan Zhou","doi":"10.1186/s12886-025-04001-2","DOIUrl":"10.1186/s12886-025-04001-2","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the diagnostic value of platelet-to-neutrophil ratio (PNR) in the occurrence of diabetic macular edema (DME) in patients with diabetic retinopathy (DR).</p><p><strong>Methods: </strong>This cross-sectional study included 366 participants categorized into four groups: DME group (n = 96), DR group (n = 90, DR without DME), diabetes mellitus (DM) group (n = 90, without DR), and healthy control group (n = 90). PNR was calculated by dividing the platelet count by the neutrophil count. Each subject was classified as one of three DME types according to the optical coherence tomography (OCT) features: diffuse retinal thickening (DRT), cystoid macular edema (CME), serous retinal detachment (SRD). The correlations between the PNR and the occurrence of DME, as well as the DME subtypes based on OCT were investigated. Multivariate logistic regression analysis was employed to determine the risk factors for DME. Receiver operating characteristic (ROC) curve analysis was conducted to assess the predictive value of PNR for DME.</p><p><strong>Results: </strong>DME group exhibited significantly lower PNR level compared to the other three groups [50.73 (38.92, 65.20) in DME group, 95.63 (68.83, 120.19) in DR group, 92.39 (72.38, 130.61) in DM group, and 100.66 (75.26, 152.77) in healthy control group, respectively, p < 0.001], but did not differ across the DME subtypes based on OCT (p = 0.548). The ROC curve demonstrated that the PNR could better predict DME (area under the curve = 0.832, 95% confidence interval: 0.773 - 0.891, p < 0.001). When the cut-off value of the PNR was 68.51, the sensitivity was 80.2%, and the specificity was 75.6%. Multivariate regression analysis indicated that PNR ≤ 68.51 was an independent risk factor for DME occurrence in DR patients (Odds ratio = 12.05, 95% confidence interval: 5.93 - 24.47, p < 0.001).</p><p><strong>Conclusion: </strong>PNR ≤ 68.51 was strongly associated with the development of DME in DR patients, while no significant differences in PNR levels were observed across the different OCT morphological groups. Hence, PNR may serve as a valuable diagnostic biomarker for identifying DME, thereby enhancing risk stratification and management strategies for patients with DR.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"167"},"PeriodicalIF":1.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.","authors":"Yanan Zhu, Nanlan Li, Ke Yao, Wei Wang, Jinyu Li","doi":"10.1186/s12886-025-03978-0","DOIUrl":"10.1186/s12886-025-03978-0","url":null,"abstract":"<p><strong>Objective: </strong>To identify the cause of congenital perinuclear cataracts in a Chinese family and its underlying mechanism.</p><p><strong>Methods: </strong>Family history and clinical data were recorded, and candidate genes were amplified by polymerase chain reaction (PCR) and screened for mutations using direct bidirectional DNA sequencing. The GJA3 gene was acquired from a human lens cDNA library, and the GJA3 mutant was generated by PCR-based site-directed mutagenesis. Connexin localization and gap junction formation were assessed by fluorescence microscopy, and hemichannel functions were analyzed by dye uptake assay.</p><p><strong>Results: </strong>Gene sequencing showed one base pair substitution at position 671 of the GJA3 gene's coding region (c.671A > G), leading to the conversion of the 224th amino acid of the Connexin 46 protein (Cx46), expressed by the GJA3 gene, from histidine to arginine (p.H224R). In stable transfectants, the formation of gap junctions was detected in both wild-type Cx46 (wtCx46) and mutant Cx46H224R transfected HeLa cells, where the Cx46H224R transfected cells exhibited a much higher Propidium Iodide (PI) loading speed than the wtCx46 cells.</p><p><strong>Conclusion: </strong>This study was the first to identify the c. 671A > G mutation of the GJA3 gene (p.H224R in Cx46), which leads to the generation of congenital perinuclear cataracts. We suggest that the H224R missense mutation of Cx46 may cause alterations in the activity of the hemichannel, leading to cataract development.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"164"},"PeriodicalIF":1.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11963407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}