British Journal of Ophthalmology最新文献

{"title":"Visual outcomes and prognostic factors in ischaemic retinal vasculitis.","authors":"Aaron Yap, Helen Kearns, Joanne L Sims, Rachael L Niederer","doi":"10.1136/bjo-2024-325775","DOIUrl":"10.1136/bjo-2024-325775","url":null,"abstract":"<p><strong>Purpose: </strong>Our aim was to describe the visual outcomes and determine the clinical factors in ischaemic retinal vasculitis (IRV) that were predictive of a poor visual prognosis or infectious aetiology.</p><p><strong>Methods: </strong>Retrospective cohort study of consecutive presentations of IRV to Auckland District Health Board from 2009 to 2022.</p><p><strong>Results: </strong>The median age at presentation was 39.2 years and 108 (53.7%) were women. The total median follow-up was 4.8 years. Infectious aetiology was present in 151 eyes (52.1%). Moderate visual loss (20/50 to 20/200) occurred in 20 eyes (6.9%) and severe visual loss (≤20/200) occurred in 41 eyes (14.1%). Median visual acuity was 20/30 (IQR 20/25 to 20/100) on presentation and 20/25 (IQR 20/20 to 20/50) at final follow-up. Retinitis (HR 4.675 p=0.048) and cystoid macular oedema (CME) (HR 7.265 p<0.001) were significantly associated with vision loss. There was concurrent macular ischaemia in 26 eyes (19.4%) and CME in 52 eyes (17.9%). Retinitis was predictive of infectious aetiology (p=0.006) and cotton wool spots for non-infectious aetiology (p<0.001). Retinal haemorrhage (HR 5.580 p=0.001), retinal vein occlusion (HR 5.071 p=0.001) and quadrants of ischaemia (HR 2.222 p=0.025) were significantly associated with vitreous haemorrhage.</p><p><strong>Conclusion: </strong>In patients with IRV, 21% of affected individuals sustained moderate-to-severe vision loss over 5 years. Ultra-widefield fluorescein angiography can be used to quantify the risk of neovascular complications and guide treatment.</p>","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":" ","pages":"209-214"},"PeriodicalIF":3.7,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of subconjunctival TRIamcinolone acetonide injection and intravitreal dexamethasone (OZurdex) injection for uveitic and postoperative macular oedema: the TRIOZ study.","authors":"Chloé Couret, Pierre-Antoine Quintart, Alexandra Poinas, Marie-Anne Vibet, Marie-Laure Le Lez, Pierre Labalette, Bahram Bodaghi, Marc Labetoulle, Marie-Bénédicte Rougier, Karine Angioi, Christophe Chiquet, Cherif Titah, Laurent Kodjikian, Stephanie Baillif, Catherine Creuzot-Garcher, Marie-Hélène Errera, Michel Weber","doi":"10.1136/bjo-2023-325128","DOIUrl":"10.1136/bjo-2023-325128","url":null,"abstract":"<p><strong>Aims: </strong>To compare effectiveness of subconjunctival triamcinolone acetonide injections and intravitreal injections of dexamethasone 700 µg implants in reducing central macular thickness (CMT) in uveitic and postoperative macular oedema (ME).</p><p><strong>Methods: </strong>We conducted an open-label, French multicentre randomised comparative trial with a logarithmic CMT non-inferiority margin set at 0.06. Patients were adults with non-infectious inflammatory ME, without any contraindication to the treatments. They were randomised 1:1 to receive either triamcinolone or dexamethasone. The primary endpoint was the difference in CMT among treated eyes between baseline and 2 months, measured with spectral-domain optical coherence tomography. Secondary outcomes included visual acuity, laser flare, vitreous haze, duration of action, tolerance to injections and adverse events.</p><p><strong>Results: </strong>Between January 2016 and January 2020, 106 patients were enrolled (54 in the triamcinolone group and 52 in the dexamethasone group). Subconjunctival triamcinolone injections seemed to be non-inferior to intravitreal dexamethasone injections, especially at month 3 (and nearly at month 1). Nevertheless, we could not demonstrate it, with a treatment effect at month 2 of 0.05 (0.01 ; 0.09) (p value=0.001). This was corroborated by post hoc analyses in the postoperative subgroup, for whom the non-inferiority was nearly demonstrated at month 2 with a treatment effect of 0.02 (-0.03 ; 0.08) (p=0.37). There was no significant difference in the occurrence of adverse effects.</p><p><strong>Conclusion: </strong>We could not demonstrate the non-inferiority of triamcinolone injections at month 2. Nevertheless, they showed some efficacity, particularly in treating postoperative ME, being as safe as dexamethasone injections, without any loss of chance if a therapeutic switch is necessary.</p>","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":" ","pages":"215-222"},"PeriodicalIF":3.7,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142016456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fluid fluctuations assessed with artificial intelligence during the maintenance phase impact anti-vascular endothelial growth factor visual outcomes in a multicentre, routine clinical care national age-related macular degeneration database","authors":"Ruben Martin-Pinardel, Jordi Izquierdo-Serra, Carolina Bernal-Morales, Sandro De Zanet, Gonzaga Garay-Aramburu, Martin Puzo, Carolina Arruabarrena, Laura Sararols, Maximino Abraldes, Laura Broc, Jose Juan Escobar-Barranco, Marta Figueroa, Miguel Angel Zapata, José M Ruiz-Moreno, Alba Parrado-Carrillo, Aina Moll-Udina, Socorro Alforja, Marc Figueras-Roca, Laia Gómez-Baldó, Carlos Ciller, Stefanos Apostolopoulos, Anastasiia Mishchuk, Ricardo P Casaroli-Marano, Javier Zarranz-Ventura","doi":"10.1136/bjo-2024-325615","DOIUrl":"https://doi.org/10.1136/bjo-2024-325615","url":null,"abstract":"Aim To evaluate the impact of fluid volume fluctuations quantified with artificial intelligence in optical coherence tomography scans during the maintenance phase and visual outcomes at 12 and 24 months in a real-world, multicentre, national cohort of treatment-naïve neovascular age-related macular degeneration (nAMD) eyes. Methods Demographics, visual acuity (VA) and number of injections were collected using the Fight Retinal Blindness tool. Intraretinal fluid (IRF), subretinal fluid (SRF), pigment epithelial detachment (PED), total fluid (TF) and central subfield thickness (CST) were quantified using the RetinAI Discovery tool. Fluctuations were defined as the SD of within-eye quantified values, and eyes were distributed according to SD quartiles for each biomarker. Results A total of 452 naïve nAMD eyes were included. Eyes with highest (Q4) versus lowest (Q1) fluid fluctuations showed significantly worse VA change (months 3–12) in IRF −3.91 versus 3.50 letters, PED −4.66 versus 3.29, TF −2.07 versus 2.97 and CST −1.85 versus 2.96 (all p<0.05), but not for SRF 0.66 versus 0.93 (p=0.91). Similar VA outcomes were observed at month 24 for PED −8.41 versus 4.98 (p<0.05), TF −7.38 versus 1.89 (p=0.07) and CST −10.58 versus 3.60 (p<0.05). The median number of injections (months 3–24) was significantly higher in Q4 versus Q1 eyes in IRF 9 versus 8, SRF 10 versus 8 and TF 10 versus 8 (all p<0.05). Conclusion This multicentre study reports a negative effect in VA outcomes of fluid volume fluctuations during the maintenance phase in specific fluid compartments, suggesting that anatomical and functional treatment response patterns may be fluid-specific. Data are available in a public, open access repository. Zarranz-Ventura J. (n.d.). Data from: FRB Spain IMAGE nAMD Report 2. Dryad Digital Repository, March 30, 2024. (<https://doi.org/10.5061/dryad.m905qfv8p>).","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"10 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143027226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can large language models fully automate or partially assist paper selection in systematic reviews?","authors":"Haichao Chen, Zehua Jiang, Xinyu Liu, Can Can Xue, Samantha Min Er Yew, Bin Sheng, Ying-Feng Zheng, Xiaofei Wang, You Wu, Sobha Sivaprasad, Tien Yin Wong, Varun Chaudhary, Yih Chung Tham","doi":"10.1136/bjo-2024-326254","DOIUrl":"https://doi.org/10.1136/bjo-2024-326254","url":null,"abstract":"Background/aims Large language models (LLMs) have substantial potential to enhance the efficiency of academic research. The accuracy and performance of LLMs in a systematic review, a core part of evidence building, has yet to be studied in detail. Methods We introduced two LLM-based approaches of systematic review: an LLM-enabled fully automated approach (LLM-FA) utilising three different GPT-4 plugins (Consensus GPT, Scholar GPT and GPT web browsing modes) and an LLM-facilitated semi-automated approach (LLM-SA) using GPT4’s Application Programming Interface (API). We benchmarked these approaches using three published systematic reviews that reported the prevalence of diabetic retinopathy across different populations (general population, pregnant women and children). Results The three published reviews consisted of 98 papers in total. Across these three reviews, in the LLM-FA approach, Consensus GPT correctly identified 32.7% (32 out of 98) of papers, while Scholar GPT and GPT4’s web browsing modes only identified 19.4% (19 out of 98) and 6.1% (6 out of 98), respectively. On the other hand, the LLM-SA approach not only successfully included 82.7% (81 out of 98) of these papers but also correctly excluded 92.2% of 4497 irrelevant papers. Conclusions Our findings suggest LLMs are not yet capable of autonomously identifying and selecting relevant papers in systematic reviews. However, they hold promise as an assistive tool to improve the efficiency of the paper selection process in systematic reviews. Data are available upon reasonable request. All data and code are available upon request by emailing thamyc@nus.edu.sg.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"28 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142986795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal corneal hysteresis changes predict structural progression in medically controlled, early-to-moderate, open-angle glaucoma with a history of refractive surgery","authors":"Jihei Sara Lee, Hyoung Won Bae, Chan Yun Kim, Sang Yeop Lee","doi":"10.1136/bjo-2024-326405","DOIUrl":"https://doi.org/10.1136/bjo-2024-326405","url":null,"abstract":"Background The present study aims to identify the relationship between longitudinal changes in corneal hysteresis (CH) and progressive retinal nerve fibre layer (RNFL) thinning in a cohort of medically controlled, early-to-moderate open-angle glaucoma (OAG) patients with a history of laser refractive surgery (LRS). Methods A total of 123 consecutive eyes with a diagnosis of medically controlled (peak intraocular pressure (IOP)<18 mm Hg), early-to-moderate OAG with a history of LRS underwent measurements of CH, corneal-compensated intraocular pressure (IOPcc) and RNFL thicknesses every 6 months. Linear models were used to investigate the relationship between CH change and RNFL thickness change over time. Results Of 123 eyes, 30 eyes (24.4%, 42.9±9.3 years, 36.7% males) demonstrated RNFL loss (93 eyes no progression, 44.4±9.6 years, 30.1% males). No statistically significant difference was found in IOP, but significantly greater decrease in CH was noted in the progression group (−2.525% baseline (95% CI −4.974 to −0.076) vs 1.068% baseline (95% CI, −0.322 to 2.458); p=0.013). Relative CH change was greater for more advanced stage of OAG among the progression group. Patients with the greatest relative CH decrease over time was 1.7 times more likely to present RNFL loss (HR 1.705, 95% CI 1.113 to 2.611, p=0.014). Conclusions Longitudinal decrease in CH over time was greater in those showing structural progression than those without progression among medically controlled, early-to-moderate OAG with a history of LRS. Decrease in CH was significantly associated with faster RNFL loss. Larger CH changes indicate a higher risk of OAG progression in those with a history of LRS. Data are available upon reasonable request. Data are available upon reasonable request to the corresponding author.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"17 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142974774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low clinical activity score, ‘progressive’ thyroid eye disease: presentations of 1439 patients from a tertiary centre in Hong Kong","authors":"Kenneth Ka Hei Lai, Fatema Mohamed Ali Abdulla Aljufairi, Jake Uy Sebastian, Kei Hei Lai, Karen Kar Wun Chan, Joyce Kar Yee Chin, Regine Yien Ching Chan, Chi Lai Li, Wilson Wai Kuen Yip, Alvin Lerrmann Young, Clement Chee Yung Tham, Chi Pui Pang, Kelvin Kam Lung Chong","doi":"10.1136/bjo-2024-325346","DOIUrl":"https://doi.org/10.1136/bjo-2024-325346","url":null,"abstract":"Background To report the presenting clinical, serological and treatment profiles of 1439 patients with thyroid eye disease (TED) from a tertiary centre in Hong Kong. Study populations Consecutive patients with TED presented to the Thyroid Eye Clinic (TEC), the Chinese University of Hong Kong between 2014 and 2023. Methods Prospective cohort and masked review of medical records and orbital images. Results A total of 1439 (70% female, 98% Han Chinese) patients with TED (26% ex/current smoker), presented at 43±5.9 years old, were reviewed. The first TED symptoms to TEC evaluation was 6±3 months. 85% had Graves’ disease and 12% were given radioactive iodine before presentation. 35% of patients had a family history of autoimmune thyroid diseases. Baseline thyroid-stimulating hormone receptor antibody, thyroid-stimulating immunoglobulin and thyroid peroxidase antibody were elevated in 75%, 69% and 57% tested. Euthyroid TED (E-TED) was diagnosed in 6%, associated with asymmetric presentation (p<0.001). The most common signs were exophthalmos (69%), upper eyelid retraction (53%), swelling (36%), conjunctival injection (34%) and lower eyelid retraction (32%). Notably, 547 (38%) presented with moderate-to-severe and 150 (10%) vision-threatening TED, whose clinical activity score (CAS) was just 2.4±1.4 and 2.6±1.5, respectively. Male and TED onset after 40 were associated with higher CAS and NOSPEC (No physical signs or symptoms, Only signs, Soft tissue involvement, Proptosis, Extraocular muscle signs, Corneal involvement, and Sight loss) score (both p<0.05). 471 (33%), 361 (25%), 263 (18%) and 138 (9%) patients received intravenous methylprednisolone, orbital radiotherapy, steroid-sparing immunosuppressants and surgical decompression, respectively. Conclusions Around one-third (34%) of our cohort presented with ‘low-CAS, progressive’, moderate-to-severe or vision-threatening TED, while only one-fifth (18%) were clinically active (CAS≥3). Our results showed the limitations and unmet need of the existing ‘high-CAS only’ approach, especially in managing ‘non-inflammatory’ TED, prevalent in non-Caucasian populations. Data are available upon reasonable request. No data are available. Not applicable.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"21 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and risk factors of myopic macular degeneration: the Aier-SERI high myopia adult cohort","authors":"Li Lian Foo, Yanfeng Jiang, Quan V Hoang, Hla Myint Htoon, Ziqi Hu, Wei Pan, Kai Xiong Cheong, Ecosse Luc Lamoureux, Zhikuan Yang, Weizhong Lan, Seang-Mei Saw","doi":"10.1136/bjo-2024-326116","DOIUrl":"https://doi.org/10.1136/bjo-2024-326116","url":null,"abstract":"Purpose To assess the prevalence and risk factors of myopic macular degeneration (MMD) in young and middle-aged individuals with high myopia in Changsha, central China. Methods A total of 445 adults with high myopia (worse than or equal to −5.0 D) were examined between 2021 and 2023. Autorefraction and biometry using IOLMaster were conducted, and fundus photos were graded for MMD using Meta-PM criteria. MMD was diagnosed if category 2, 3, 4 or any plus lesion was present. Risk factors such as age, gender, spherical equivalent (SE)/axial length (AL), body mass index, education and residence were analysed via logistic regression. Results Participants had an average age of 42.3±7.3 years. MMD prevalence was 21.8% (71 adults) with a mean SE of −9.5±4.7 D and AL of 27.3±1.9 mm. Significant risk factors included greater myopic SE (OR=1.7 per 1 D decrease) and longer AL (OR=3.6 per 1 mm increase). MMD prevalence rose sharply with myopia worse than −10.00 D and AL >27.00 mm, reaching up to 100% for myopia worse than −14.00 D or AL ≥29.00 mm. Conclusion MMD affects about one in five young to middle-aged adults with high myopia. Those exceeding critical myopia and AL thresholds are at higher risk and should be closely monitored. Further research on interventions to prevent axial elongation is needed, particularly for those with high genetic risk. Data are available upon reasonable request.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"12 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142936682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preretinal abnormal tissue before and after pars plana vitrectomy in macula-on rhegmatogenous retinal detachment: a multimodal imaging study","authors":"Alberto Quarta, Lisa Toto, Maria Ludovica Ruggeri, Annamaria Porreca, Agbeanda Aharrh-Gnama, Lucio Zeppa, Lorenzo Motta, Matteo Gironi, Marta Di Nicola, Rodolfo Mastropasqua","doi":"10.1136/bjo-2024-326442","DOIUrl":"https://doi.org/10.1136/bjo-2024-326442","url":null,"abstract":"Purpose To quantitatively explore preretinal abnormal tissue (PAT) in macula-on rhegmatogenous retinal detachment (RRD) before and after surgery. Methods In this case-series study, PAT was detected by en-face optical coherence tomography images with custom slabs in eyes that underwent pars plana vitrectomy and SF6 for macula-on RRD. Main outcome measures were PAT area at baseline, 3-month and 6-month follow-up, and its relative change. Associations between PAT and foveal avascular zone (FAZ) at superficial capillary plexus (SCP), RRD area, retinal tear (RT) area and endolaser area were investigated. Results 36 macula-on eyes RRD were included in the analysis. Significant PAT growth was registered from baseline until 6 months (p<0.001). Baseline PAT area correlated with RT area (r=0.54, p=0.001). Significant correlation between relative change in PAT and relative change in FAZ SCP was found. The multivariable regression model showed a statistically significant association between Endolaser area (cm2) and relative changes in PAT (p=0.004). Conclusions Our study found that despite good retinal reattachment, PAT proliferates over months with vascular changes. Endolaser area has a major influence on PAT growth, without impact on best-corrected visual acuity. Additional knowledge about pathophysiological mechanisms of growth could help understanding which surgical approach may limit PAT extension and future secondary epiretinal membrane. Data are available upon reasonable request. Data and results supporting this study’s findings are available upon reasonable request to the corresponding author. All authors attest that they meet the current ICMJE criteria for authorship.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"44 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142925004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"At a glance","authors":"Frank Larkin","doi":"10.1136/bjo-2024-326873","DOIUrl":"https://doi.org/10.1136/bjo-2024-326873","url":null,"abstract":"A national corneal transplant registry analysis of 11,516 endothelial keratoplasty procedures found clear evidence that increasing surgeon experience in that procedure was associated with longer two-year transplant survival. This strongly supports best feasible arrangements for surgeon training and mentoring at the introduction of new procedures. This trial examined the usefulness of short-term 1% topical ciclosporin in cases of acute Stevens-Johnson syndrome (SJS). Additional therapy with 1% ciclosporin was not efficacious over standard therapy in stabilising the ocular surface in cases of acute SJS. Twenty years following an equivalent study, contact lens wear remained the leading risk factor for bacterial keratitis. A majority of Gram-negative bacteria were found, with a marked increase in Moraxella keratitis and a low rate of antibacterial drug resistance. Based on their proposed keratitis grading system, the authors' study provides a reportedly safe, evidence-based management protocol for patients with contact lens associated keratitis (CLAK). This should improve resource allocation and at a time of increasing demand for eye care services by reducing unnecessary patient visits. In a real-world registry, most non-infectious non-anterior uveitis cases were found to require immunosuppression with biologic and/or …","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"114 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142841625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide association study of anterior uveitis","authors":"Fredrika Koskimäki, Oona Ahokas, Risto Kajanne, Krista-Roberta Saviauk, Abdelrahman Elnahas, Anu Reigo, Kadri Reis, Tõnu Esko, Priit Palta, Sanna Leinonen, Johannes Kettunen, Johanna Liinamaa, Minna K Karjalainen, Ville Saarela, Estonian Biobank Research Team Consortium","doi":"10.1136/bjo-2024-326037","DOIUrl":"https://doi.org/10.1136/bjo-2024-326037","url":null,"abstract":"Background/aims The purpose of this study is to define genetic factors associated with anterior uveitis through genome-wide association study (GWAS). Methods In this GWAS meta-analysis, we combined data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 anterior uveitis cases and 917 145 controls. We performed a phenome-wide association study (PheWAS) to investigate associations across phenotypes and traits. We also evaluated genetic correlations of anterior uveitis. Results We identified six anterior uveitis-associated loci. Genome-wide significant (p<5 × 10−8) associations were identified for the first time at three loci (innate immunity activator ( INAVA) , nucleotide-binding domain, leucine-rich repeat family, pyrin domain containing 3 and nitric oxide synthase 2). We detected associations at three loci previously reported to be associated with uveitis (endoplasmic reticulum aminopeptidase 1 ( ERAP1) , the trinucleotide repeat containing 18 ( TNRC18) and the HLA region) and also replicated associations at two loci previously associated with acute anterior uveitis ( IL23R and HDAC2-AS2 ). In PheWAS, we further detected that lead single nucleotide polymorphisms (SNPs) at three of the anterior uveitis-associated loci ( ERAP1 , INAVA and TNRC18 ) are associated with other immunity-related phenotypes, including ankylosing spondylitis and inflammatory bowel disease. Additionally, we detected a moderate genetic correlation between anterior uveitis and inflammatory bowel disease ( rg =0.39, p=8 × 10−5). Conclusion We identified six anterior uveitis-associated loci, including three novel loci with genome-wide significance. Our findings deepen our understanding of the genetic basis of anterior uveitis and the genetic connections between anterior uveitis and immune-related disorders, providing a foundation for further research and potential therapeutic interventions. Data are available upon reasonable request.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"14 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142887475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}