BMC Ophthalmology最新文献

{"title":"A case report: corneal melting after patch graft in a rheumatoid arthritis patient taking Upadacitinib: paradoxical manifestation or uncontrolled disease activity?","authors":"Hongling Wu, Xin Jin, Hong Zhang","doi":"10.1186/s12886-025-04403-2","DOIUrl":"https://doi.org/10.1186/s12886-025-04403-2","url":null,"abstract":"<p><strong>Background: </strong>Peripheral ulcerative keratitis (PUK) is a serious and uncommon ocular manifestation associated with poorly controlled rheumatoid arthritis (RA). Upadacitinib (UPA), a selective Janus kinase 1 inhibitor, is an effective therapy for patients with moderate-to-severe disease activity RA who do not respond to or are intolerant to conventional synthetic disease-modifying antirheumatic drugs (csDMARDs). However, episodes of paradoxical ocular inflammation associated with its use have not been reported before. We summarized a case report of corneal erosion following DALK in a UPA-treated RA patient with ophthalmological manifestations and discussed the potential etiological mechanisms.</p><p><strong>Case description: </strong>A 64-year-old female patient with a 36-year history of erosive RA was added on iguratimod, a new DMARD and followed by one month of UPA treatment, which was discontinued due to the development of pulmonary nodules. After three months of pharmacotherapy, PUK showed no signs of improvement and progressed to descemetocele in the right eye at admission. The patient underwent DALK and recovered well within 3 months after the surgery. However, corneal graft rejection occurred 9 months after surgery coinciding with a one-month course of UPA treatment. Over the subsequent six months, a recurrent tendency of corneal erosion was observed in the reexaminations despite treatment with topical and systemic immunosuppressive agents, in addition to systemic corticosteroids. Her Disease Activity Score-28 (DAS-28) was recorded at 5.7, and anti-cyclic citrullinated protein antibody levels remained strongly positive throughout this period. It's worth noting that ocular symptoms manifested in the right eye approximately one month after the discontinuation of UPA therapy.</p><p><strong>Conclusion: </strong>Paradoxical ocular inflammation has been documented in several case reports and series following a switch to other targeted synthetic DMARDs (tsDMARDs) or biologic DMARDs (bDMARDs). This case suggests that PUK may occur either as a potential adverse effect of UPA or due to uncontrolled disease activity. These findings emphasize the urgent need to focus on the UPA-associated ocular adverse events.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"580"},"PeriodicalIF":1.7,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312320","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":"Three-dimensional choroidal parameter differences in myopic anisometropia.","authors":"Qiujian Zhu, Xiaoying Xing, Lie Ma, You Yuan, E Song","doi":"10.1186/s12886-025-04425-w","DOIUrl":"https://doi.org/10.1186/s12886-025-04425-w","url":null,"abstract":"<p><strong>Background: </strong>To quantitatively compare 3D choroidal parameters between fellow eyes in individuals with varying degrees of myopic anisometropia and evaluate their correlations with interocular differences in spherical equivalent (△SE) and axial length (△AL).</p><p><strong>Methods: </strong>This retrospective cross-sectional study enrolled 102 participants (204 eyes) categorized into low (△SE < 2.0D), moderate (2.0D ≤ △SE < 3.0D), and high (△SE ≥ 3.0D) anisometropia groups. Choroidal parameters, including choroidal vascular volume (CVV), choroidal stroma volume (CSV), and 3D choroidal vascularity index (3D-CVI), were measured using swept-source optical coherence tomography (SS-OCT). Retinal vessel density (VD) and regional variations were analyzed.</p><p><strong>Results: </strong>CVV and CSV were significantly lower in more myopic eyes across all groups (P < 0.05), with the greatest reductions observed in the high anisometropia group. Nasal regions exhibited the strongest correlations between △CVV/△CSV and △SE/△AL (coefficients up to 0.403, P < 0.001). No interocular differences in 3D-CVI were detected (P > 0.05). Retinal VD in the high anisometropia group was elevated in more myopic eyes (P < 0.05), suggesting compensatory microvascular changes.</p><p><strong>Conclusion: </strong>Three-dimensional choroidal metrics, particularly CVV and CSV, reflect myopic severity in anisometropia, with nasal choroid demonstrating heightened vulnerability to axial elongation. These findings highlight the potential of volumetric choroidal imaging for evaluating myopic structural changes and underscore the need for further longitudinal studies to elucidate causal mechanisms.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"583"},"PeriodicalIF":1.7,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312315","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":"The impact of graves' orbitopathy on anterior segment structures and choroidal parameters.","authors":"Neslihan Sevimli, Müzeyyen Eryılmaz, Muhammed Kaan Azarbaz, Güneş Taydaş","doi":"10.1186/s12886-025-04441-w","DOIUrl":"https://doi.org/10.1186/s12886-025-04441-w","url":null,"abstract":"<p><strong>Background: </strong>To evaluate Schlemm's canal (SC) dimensions and choroidal vascularity in patients with Graves' orbitopathy (GO+), and to compare the findings with those of patients with Graves' disease (GD) without orbitopathy (GO-) and healthy controls using optical coherence tomography (OCT); additionally, to investigate the potential impact of these anatomical and vascular changes on intraocular pressure (IOP) elevation and glaucoma susceptibility.</p><p><strong>Methods: </strong>This cross-sectional study included 164 participants, categorized into three groups: GO+ (n = 38), GO- (n = 76), and healthy controls (n = 50). All subjects were euthyroid for at least six months. SC length (SCL), SC area (SCA), choroidal vascularity index (CVI), luminal area (LA), stromal area (SA), and total choroidal area (TCA) were assessed. Correlations between SCA, SCL, and CVI measurements and other ocular and systemic parameters were analyzed. Demographic, ocular, and systemic parameters were also compared among groups.</p><p><strong>Results: </strong>There were no significant differences in age, sex, intraocular pressure, central corneal thickness, retinal nerve fiber layer thickness, or optic disc parameters across groups (p > 0.05). Hertel exophthalmometry values were significantly elevated in the GO + group (p < 0.001). Both SCL and SCA were significantly lower in the GO + group compared to the GO- and control groups (p < 0.001). The GO- group showed significantly reduced SC measurements compared to controls (p < 0.001). While CVI did not differ significantly among groups (p = 0.758), pairwise analysis revealed significantly higher LA (p = 0.028) and TCA (p = 0.035) levels in the GO + group compared to the GO- group. A borderline correlation was observed between SCA and CVI (r = 0.150, p = 0.050), and a significant negative correlation was noted between Hertel values and SCA (r = - 0.394, p < 0.001).</p><p><strong>Conclusion: </strong>Changes in SC and choroidal structures in GD may be influenced by both mechanical and systemic factors. While these alterations may contribute to IOP elevation, they do not directly imply increased glaucoma risk but could play a role in its development or progression in susceptible individuals.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"584"},"PeriodicalIF":1.7,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312386","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":"Iris pigment epithelial cysts in acute lymphoblastic leukemia-a case report.","authors":"Kar Yong Chong, Yong Zheng Wai, Nurhayati Abdul Kadir, Lik Thai Lim, Raja Muhamad Zul Hatta, Wai Seng Chiang","doi":"10.1186/s12886-025-04419-8","DOIUrl":"https://doi.org/10.1186/s12886-025-04419-8","url":null,"abstract":"<p><strong>Background: </strong>Iris cysts are classified as either primary or secondary, with further subcategorization based on the tissue of origin. The most common type is the primary iris pigment epithelial (IPE) cyst. We report a rare case of bilateral IPE cysts in a patient with acute lymphoblastic leukemia (ALL).</p><p><strong>Case presentation: </strong>A 3-year-old male toddler initially presented with signs and symptoms of anemia. Multiple lymph nodes were palpable throughout the body, and hepatosplenomegaly was noted. An incidental finding of cystic lesions at the margins of both pupils prompted referral to the ophthalmology team. There was no family history of malignancy or similar eye conditions. Ophthalmic examination revealed IPE cysts in both eyes (BE). Fundus examination showed a dull macula, and tortuous vessels, with no retinal hemorrhages observed. Intraocular pressure was normal. Petechial rashes were present on both eyelids. A full blood count revealed pancytopenia, and a peripheral blood film (PBF) showed a leucoerythroblastic picture without obvious blast cells. Bone marrow aspiration and trephine biopsy (BMAT) were performed. Trephine biopsy and bone marrow immunophenotyping were suggestive of B-cell acute lymphoblastic leukemia (B-cell ALL) with aberrant CD58 expression. Cytogenetic analysis revealed hyperdiploidy, a favourable prognostic marker. The patient was started on chemotherapy. Following initiation of chemotherapy, the IPE cysts decreased in size.</p><p><strong>Conclusion: </strong>In this case, the IPE cysts were likely associated with ALL. This rare occurrence may raise awareness of a potential link between IPE cysts and hematological malignancies, and could pave the way for future research to elucidate the underlying pathogenesis and treatment implications.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"582"},"PeriodicalIF":1.7,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312342","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":"Axial length-based comparison of clinical characteristics and visual outcomes in macular pseudohole, epiretinal membrane foveoschisis, and lamellar macular hole.","authors":"Noriko Kubota, Reo Sueno, Yosai Mori, Kazunori Miyata, Tomoyuki Kunishige, Yuji Nakano, Hitoshi Goto, Fumiki Okamoto","doi":"10.1186/s12886-025-04424-x","DOIUrl":"https://doi.org/10.1186/s12886-025-04424-x","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate clinical and optical coherence tomography (OCT) findings and visual outcomes in patients with macular pseudohole (MPH), epiretinal membrane foveoschisis (ERM-FS), and lamellar macular hole (LMH) based on axial length (AL).</p><p><strong>Methods: </strong>We retrospectively reviewed consecutive patients diagnosed with MPH, ERM-FS, and LMH who underwent vitrectomy and were followed for at least 6 months postoperatively. In each disease group, eyes were categorized into three groups based on AL; normal (< 24 mm), myopic (≥ 24 to < 26 mm), and highly myopic (≥ 26 mm). Analyzed factors included age, AL, preoperative and postoperative best-corrected visual acuity (BCVA), and OCT parameters such as the presence of inner and outer retinal cysts, epiretinal proliferation, and ellipsoid zone disruption.</p><p><strong>Results: </strong>A total of 171 eyes from 170 patients (79 males and 91 females) were included: 74 eyes with MPH, 59 eyes with ERM-FS, and 38 eyes with LMH. Postoperative BCVA significantly improved in all AL groups across all disease types. In the MPH group, postoperative BCVA was significantly better in the highly myopic group than in the myopic group (p = 0.04). There were no significant differences in the frequency of the OCT findings among the AL groups in any of the diseases. However, the presence of outer cysts at 6 months postoperatively tended to be more frequent in the highly myopic group in LMH (p = 0.065).</p><p><strong>Conclusion: </strong>Vitrectomy improved visual acuity in all AL groups across MPH, ERM-FS, and LMH. AL did not significantly affect the frequency of abnormal findings for the preoperative and postoperative OCT.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"581"},"PeriodicalIF":1.7,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312393","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":"Ocular surface and corneal subbasal nerve plexus changes in ocular graft versus host disease patients treated with topical cyclosporine.","authors":"Emine Esra Karaca, Özlem Evren Kemer, Simten Dağdaş, Yonca Asfuroğlu, Funda Ceran, Mehmet Sezgin Pepeler, Şule İdacı Koç, Gülsüm Özet","doi":"10.1186/s12886-025-04366-4","DOIUrl":"https://doi.org/10.1186/s12886-025-04366-4","url":null,"abstract":"","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"579"},"PeriodicalIF":1.7,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145307020","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":"Intravitreal anti-vascular endothelial growth factor agents as an adjunct for proliferative diabetic retinopathy: a systematic review and meta-analysis.","authors":"Xinzhi Song, Ling Li, Xiangli Wang, Xuemei Zhang, Qihang Lei, Guojun Liu, Lijing Wang, Jiaxiang Chen","doi":"10.1186/s12886-025-04327-x","DOIUrl":"10.1186/s12886-025-04327-x","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the efficacy and safety of intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents adjunct prior to pars plana vitrectomy (PPV) for patients with proliferative diabetic retinopathy (PDR).</p><p><strong>Methods: </strong>A systematically comprehensive literature search was performed in PubMed, Embase, Cochrane Library, ClinicalTrials.gov, China National Knowledge Infrastructure (CNKI), Wanfang, VIP Database for Chinese Technical Periodicals, and Chinese Biomedical Literature Database to identify relevant randomized controlled trials (RCTs) up to October 31, 2024. The Peferred Reporting Items for Systematic Reviews and Meta Analysis guidelines were followed. Review Manager 5.4 software was used to conduct statistical analyses.</p><p><strong>Results: </strong>91 RCTs involving 8721 eyes were included. The intraoperative indices revealed that the amount, grade and incidence of intraoperative bleeding, duration of surgery, the frequency of endodiathermy, the incidences of iatrogenic retinal breaks, endodiathermy, retinotomy, and silicone oil tamponade were significantly less in the PPV + anti-VEGF group than in the PPV group (P < 0.05). Moreover, the postoperative indices showed that anti-VEGF agents adjunct before PPV could achieve better postoperative best corrected visual acuity (BCVA) at different time points, higher postoperative retinal anatomical reattachment, lower postoperative macular retinal thickness (MRT) at different time points and intraocular pressure (IOP) at < 1 month, ≥ 3 months but < 6 months, and shorter clearing time of postoperative vitreous hemorrhage (POVH) (P < 0.05). Furthermore, the incidences of postoperative complications such as early POVH, late POVH at different time points, retinal detachment, re-proliferation, aseptic and infective endophthalmitis, iris rubeosis, neovascular glaucoma, hyphema, and elevated IOP were significantly lower in the PPV + anti-VEGF group than in the PPV group (P < 0.05). Besides, anti-VEGF agents adjunct before PPV could achieve lower re-PPV probability (P < 0.0001).</p><p><strong>Conclusions: </strong>Intravitreal anti-VEGF agents adjunct prior to PPV for PDR patients might facilitate much easier surgery, shorter surgical time, better postoperative BCVA, and lower postoperative MRT; meanwhile reduce the incidence of intraoperative and postoperative complications, and the risk of re-PPV. In addition, more RCTs with better design, larger sample sizes and longer follow-up time are needed to provide more reliable evidence.</p><p><strong>Prospero registration number: </strong>CRD42024604615 (22 October 2024).</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"578"},"PeriodicalIF":1.7,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12522472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298577","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":"Dyslipidemia for delayed healing after macular hole surgery: a clinical risk analysis study.","authors":"Jingwen Hui, Yuejun Zhou, Quanhong Han, Ying Wang","doi":"10.1186/s12886-025-04414-z","DOIUrl":"10.1186/s12886-025-04414-z","url":null,"abstract":"<p><strong>Purpose: </strong>Delayed macular hole (MH) closure poses a clinical challenge, yet few studies have examined the influence of systemic metabolic factors such as dyslipidemia on postoperative retinal repair. This study investigated risk factors associated with delayed closure after MH surgery, with a particular focus on dyslipidemia.</p><p><strong>Methods: </strong>We retrospectively analyzed 432 patients who underwent MH surgery with an internal limiting membrane (ILM) flap technique at Tianjin Eye Hospital between 2015 and 2024. Clinical and biochemical parameters-including total cholesterol (TC), triglycerides (TG), age, sex, and postoperative positioning compliance-were assessed. Multivariable logistic regression, smoothed curve fitting, and threshold-effect analyses were used to identify predictors of delayed MH closure.</p><p><strong>Results: </strong>Of the 432 patients, 60 experienced delayed MH closure. Higher TC and TG levels were significantly associated with delayed closure after adjustment for confounders. These findings suggest that lipid dysregulation may contribute to slower retinal repair.</p><p><strong>Conclusion: </strong>Dyslipidemia is associated with delayed MH closure, highlighting a potential role of systemic metabolic dysfunction in postoperative retinal recovery. Lipid-lowering strategies may be considered as adjunctive measures to improve surgical outcomes. Prospective studies are warranted to validate these findings and explore targeted interventions.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"577"},"PeriodicalIF":1.7,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298597","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":"Multifractal and lacunarity features of retinal microvasculature in migraine: an optical coherence tomography angiography study.","authors":"Abdülcemal Gürpınar, Yüksel Süllü","doi":"10.1186/s12886-025-04407-y","DOIUrl":"10.1186/s12886-025-04407-y","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the multifractal and lacunarity characteristics of the retinal microvasculature in patients with migraine and compare with healthy controls.</p><p><strong>Methods: </strong>A total of 177 eyes from 56 migraine patients (35 without aura, 21 with aura) and 102 eyes from 51 healthy controls were included. Optical coherence tomography angiography (OCTA) was used to assess foveal and parafoveal vascular parameters. Vascular area density, vascular length density, vascular diameter index, vascular tortuosity, branch point density, non-flow area, and foveal avascular zone parameters were measured with ImageJ. Fractal dimensions (D₀, D₁, D₂), multifractal spectrum (D(q)), and lacunarity (parameter b) were calculated using MATLAB.</p><p><strong>Results: </strong>Migraine with aura patients showed significantly reduced vascular area density, vascular length density, vascular diameter index, and branch point density values, particularly in the deep capillary plexus. The foveal avascular zone area and perimeter were significantly enlarged in the migraine with aura group. Fractal analysis revealed a significant decrease in D₀, D₁, and D₂ values in migraine with aura, especially in the deep capillary plexus. The multifractal spectrum (D(q)) exhibited a consistent downward shift in migraine with aura, suggesting global architectural simplification. Although not statistically significant, lacunarity analysis showed a trend toward increased spatial heterogeneity in migraine with aura, reflected by lower b values.</p><p><strong>Conclusion: </strong>Migraine, particularly with aura, is associated with reduced vascular complexity and increased spatial irregularity in the retinal microvasculature, especially at the level of the deep capillary plexus. Multifractal and lacunarity metrics may serve as sensitive indicators of subclinical microvascular disruption in migraine.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"574"},"PeriodicalIF":1.7,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12522646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145290928","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":"Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.","authors":"Thainá Vilella, Beatriz Carvalho Nunes, Giulia Steuernagel Del Valle, Isabel Furquim Pinheiro, Hiromi Aoi, Takeshi Mizuguchi, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Chong Ae Kim, Juliana Maria Ferraz Sallum, Maria Isabel Melaragno, Priscila Cardoso Cristovam","doi":"10.1186/s12886-025-04401-4","DOIUrl":"10.1186/s12886-025-04401-4","url":null,"abstract":"<p><strong>Purpose: </strong>Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple organs, including the eyes. Ophthalmological findings in individuals with CdLS can vary, as occurs with certain features commonly associated with the syndrome, whose presence and severity can differ among patients. In this exploratory cross-sectional study, we aimed to report the ophthalmological phenotypes in a Brazilian CdLS cohort and evaluated possible genotype-phenotype associations.</p><p><strong>Methods: </strong>Sixteen individuals with Cornelia de Lange Syndrome participated in this study. Only patients who had pathogenic or likely pathogenic variants in the NIPBL gene were included. Ophthalmological exams were conducted to investigate alterations in CdLS patients according to tolerance. The ophthalmic assessment comprised measurement of facial distances, ectoscopy, visual acuity, pupillary reaction, extrinsic ocular motility, slit lamp exam, tonometry, refraction under cycloplegia, and dilated fundus exam.</p><p><strong>Results: </strong>Ocular anomalies were identified in all CdLS patients, including abnormalities of the eyebrows, eyelashes, palpebral fissures, and anterior and posterior segments, as well as refractive errors, strabismus, and nystagmus. Although some phenotypes were exclusively present in patients with specific NIPBL variant types, no statistical significance was identified.</p><p><strong>Conclusions: </strong>The ophthalmological findings in patients with CdLS are diverse and often significantly impact vision and quality of life. We recommend regular ophthalmological exams from the time of diagnosis to enable detection of treatable eye conditions, including refractive errors, ptosis, dry eyes, and strabismus, as early detection is essential for appropriate interventions and the prevention of long-term visual complications.</p>","PeriodicalId":9058,"journal":{"name":"BMC Ophthalmology","volume":"25 1","pages":"567"},"PeriodicalIF":1.7,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12522856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145290966","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}