Acta Ophthalmologica最新文献

{"title":"Anterior scleral thickness in Marfan syndrome: A quantitative analysis","authors":"Lien Alluyn,&nbsp;Laure Dequeker,&nbsp;Siska Dhaese,&nbsp;Alejandra Consejo,&nbsp;Julie De Zaeytijd,&nbsp;Bart P. Leroy,&nbsp;Julie De Backer,&nbsp;Elke O. Kreps","doi":"10.1111/aos.16721","DOIUrl":"10.1111/aos.16721","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>To investigate the anterior scleral thickness (AST) in patients with Marfan syndrome (MFS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A prospective, cross-sectional study was conducted at the Department of Ophthalmology, Ghent University Hospital, Ghent, including patients with a genetically confirmed clinical diagnosis of MFS and age-, gender- and axial length-matched controls. Subjects with known corneal, conjunctival or scleral pathology and a history of ocular surgery, including pars plana vitrectomy, recent contact lens use or high-grade astigmatism were excluded. Subjects underwent non-cycloplegic autorefraction, Scheimpflug-based corneal tomography, axial length measurement and spectral-domain optical coherence tomography (OCT). AST was manually measured at 1 mm (AST1), 2 mm (AST2) and 3 mm (AST3) from the scleral spur, temporally and nasally.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 56 subjects (28 subjects in the MFS group and 28 matched subjects in the control group) were included in this study. In patients with MFS, AST was significantly reduced compared to matched controls, both overall and at every analysed measuring point in the nasal and temporal areas (<i>p</i> &lt; 0.001). Central corneal thickness (CCT) and mean keratometry (Kmean) values were significantly lower in patients with MFS (<i>p</i> &lt; 0.05). A positive correlation was found between nasal AST and CCT in patients with MFS. No correlation was found between AST and Kmean or between AST and axial length. In patients with MFS with ectopia lentis, compared to those without, temporal AST3 was significantly lower (<i>p</i> &lt; 0.05). AST was significantly lower in patients with MFS harbouring a variant predicted to cause haploinsufficiency compared to those with a variant expected to lead to a dominant negative effect for both nasal and temporal measurements.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Based on anterior segment OCT measurements, AST of patients with MFS is significantly lower compared to matched controls.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"102 7","pages":"e1050-e1056"},"PeriodicalIF":3.0,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141074408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Presence and development of diabetic retinopathy in 16 999 patients with type 1 diabetes in the Danish Registry of Diabetic Retinopathy","authors":"Lonny Stokholm,&nbsp;Frederik Nørregaard Pedersen,&nbsp;Nis Andersen,&nbsp;Jens Andresen,&nbsp;Toke Bek,&nbsp;Sebastian Dinesen,&nbsp;Javad Hajari,&nbsp;Steffen Heegaard,&nbsp;Kurt Højlund,&nbsp;Caroline Schmidt Laugesen,&nbsp;Ryo Kawasaki,&nbsp;Sören Möller,&nbsp;Katja Christina Schielke,&nbsp;Yousif Subhi,&nbsp;Anne Suhr Thykjær,&nbsp;Jakob Grauslund","doi":"10.1111/aos.16707","DOIUrl":"10.1111/aos.16707","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>To evaluate the five-year incidence of diabetic retinopathy (DR) and associated risk markers in patients with type 1 diabetes in the national Danish DR-screening programme.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Based on national data, we included all 16 999 patients with type 1 diabetes in the Danish Registry of Diabetic Retinopathy, who attended the national screening programme in the period 2013–2018. According to the worse eye at first screening, DR was classified (levels 0–4) and linked with various national health registries to retrieve information on diabetes duration, systemic comorbidity, and medication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>At first screening, median age and duration of diabetes were 45.0 and 16.7 years, and 57.5% were males. The prevalence and five-year incidences for DR and progression to proliferative DR (PDR) were 44.2%, 8.9% and 2.0%, respectively. In multivariable Cox models, the incidence endpoints were associated with duration of diabetes (hazard ratio [HR] 1.76, 95% confidence interval [CI] 1.63–1.89, and HR 2.04, 95% CI 1.73–2.40 per 10 years), moderately low Charlson Comorbidity Index score (HR 1.27, 95% CI 1.10–1.47, and HR 2.80, 95% CI 2.23–3.51), and use of blood pressure lowering medication (HR 1.20, 95% CI 1.05–1.36, and HR 1.98, 95% CI 1.53–2.57).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In a study of all patients with type 1 diabetes from the Danish DR-screening programme, we identified duration of diabetes, systemic disease and use of anti-hypertensive treatment as consistent risk markers for incident and progressive DR.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"102 7","pages":"805-812"},"PeriodicalIF":3.0,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/aos.16707","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140955698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A deep learning approach to explore the association of age-related macular degeneration polygenic risk score with retinal optical coherence tomography: A preliminary study","authors":"Adam Sendecki,&nbsp;Daniel Ledwoń,&nbsp;Julia Nycz,&nbsp;Anna Wąsowska,&nbsp;Anna Boguszewska-Chachulska,&nbsp;Andrzej W. Mitas,&nbsp;Edward Wylęgała,&nbsp;Sławomir Teper","doi":"10.1111/aos.16710","DOIUrl":"10.1111/aos.16710","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>Age-related macular degeneration (AMD) is a complex eye disorder affecting millions worldwide. This article uses deep learning techniques to investigate the relationship between AMD, genetics and optical coherence tomography (OCT) scans.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The cohort consisted of 332 patients, of which 235 were diagnosed with AMD and 97 were controls with no signs of AMD. The genome-wide association studies summary statistics utilized to establish the polygenic risk score (PRS) in relation to AMD were derived from the GERA European study. A PRS estimation based on OCT volumes for both eyes was performed using a proprietary convolutional neural network (CNN) model supported by machine learning models. The method's performance was assessed using numerical evaluation metrics, and the Grad-CAM technique was used to evaluate the results by visualizing the features learned by the model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The best results were obtained with the CNN and the Extra Tree regressor (MAE = 0.55, MSE = 0.49, RMSE = 0.70, <i>R</i>² = 0.34). Extending the feature vector with additional information on AMD diagnosis, age and smoking history improved the results slightly, with mainly AMD diagnosis used by the model (MAE = 0.54, MSE = 0.44, RMSE = 0.66, <i>R</i>² = 0.42). Grad-CAM heatmap evaluation showed that the model decisions rely on retinal morphology factors relevant to AMD diagnosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The developed method allows an efficient PRS estimation from OCT images. A new technique for analysing the association of OCT images with PRS of AMD, using a deep learning approach, may provide an opportunity to discover new associations between genotype-based AMD risk and retinal morphology.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"102 7","pages":"e1029-e1039"},"PeriodicalIF":3.0,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140955717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors associated with keratoconus in Israel—A cross-sectional population-based study","authors":"Or Ben-Shaul,&nbsp;Adi Segal,&nbsp;Sharon Schwartz,&nbsp;Nili Stein,&nbsp;Michael Hyams,&nbsp;Walid Saliba,&nbsp;Michael Mimouni","doi":"10.1111/aos.16706","DOIUrl":"10.1111/aos.16706","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>To identify potential factors associated with keratoconus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study included data from Israel's largest healthcare provider for the years 2005–2020. Keratoconus patients and age-matched controls were identified. Demographic factors and comorbid conditions, including smoking, diabetes mellitus, asthma, myalgia, mental retardation, Down syndrome, atopic dermatitis and allergy/allergic rhinitis, were compared between the two cohorts. The independent risk factors associated with keratoconus were determined using a multivariable conditional logistic regression model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, 145 508 subjects were reviewed of which 13 228 were keratoconus patients. A ten-fold group (<i>n</i> = 132 280) of age-matched control subjects served as controls for comparisons. In multivariable analysis, several factors were found to be significantly associated with keratoconus. Male gender (OR = 1.27, <i>p</i> &lt; 0.001), Arab ethnicity (OR = 1.50, <i>p</i> &lt; 0.001), diabetes (OR = 1.19, <i>p</i> &lt; 0.001), asthma (OR = 1.50, <i>p</i> &lt; 0.001), myalgia (OR = 1.09, <i>p</i> = 0.02), mental retardation (OR = 2.63, <i>p</i> &lt; 0.001), atopic dermatitis (OR = 1.35, <i>p</i> &lt; 0.001) and allergic rhinitis (OR = 1.21, <i>p</i> &lt; 0.001) were significantly associated with keratoconus. Smoking was significantly protective of keratoconus (OR = 0.66, <i>p</i> &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This population-based study reports male gender, Arab ethnicity, diabetes, asthma, myalgia, mental retardation/Down syndrome, atopic dermatitis and allergic rhinitis as factors associated with keratoconus while smoking demonstrates a protective effect. The results of this study could guide enhanced screening strategies and early interventions, particularly for high-risk groups.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"102 7","pages":"e1011-e1017"},"PeriodicalIF":3.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/aos.16706","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140920750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The risk for ophthalmological conditions in ulcerative colitis: A population-based case–control study. Is silica dust-exposure associated with inflammatory eye disease?","authors":"Karim Makdoumi,&nbsp;Lucyn Ayoub,&nbsp;Ing-Liss Bryngelsson,&nbsp;Pål Graff,&nbsp;Pernilla Wiebert,&nbsp;Per Vihlborg","doi":"10.1111/aos.16708","DOIUrl":"10.1111/aos.16708","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>To study the risk for eye diseases in individuals with Ulcerative Colitis (UC), and to assess whether silica dust-exposure could contribute to the development of inflammatory eye diseases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A case–control study was conducted using a patient register processed by the National Board of Health and Welfare (NBHW) and <i>Statistics Sweden</i>. Cases were diagnosed with UC between 2007 and 2016. Matching was done with two random controls having the same age, sex and county of residence, without a systemic inflammatory disease. Using a job-exposure matrix, cases and controls were assessed for work-related silica dust exposure. The risk for eye disease was estimated by Cox regression analysis with calculation of Hazard Ratio (HR).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 58 989 individuals were included, comprising 19 663 cases and 39 326 controls. The sex distribution was similar. Overall, individuals with UC had an increased risk for eye disease, specified in ICD 10 chapter VII (H00-H59) with HR 1.25 (CI 1.20–1.32). The highest HR on block-level for cases was 1.52 (CI 1.36–1.70), (H15-H22), which includes episcleritis, keratitis and anterior uveitis. The risk for ocular disease was higher in silica dust-exposed than non-exposed with a HR of 1.44 (CI 1.16–1.78) and 1.25 (CI 1.19–1.31), respectively. Among cases, the risk for iridocyclitis (H20) was further elevated by silica dust exposure, with HR of 3.84 (CI 1.64–8.97) in exposed compared to 1.94 (1.57–2.41) in non-exposed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>UC is associated with an increased risk for eye diseases, including inflammatory conditions. Our findings highlight that silica dust-exposure may be of importance in the pathogenesis of uveitis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"102 7","pages":"828-835"},"PeriodicalIF":3.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/aos.16708","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140911234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Injection burden and treatment intervals of aflibercept in observe-and-plan regimen for neovascular age-related macular degeneration","authors":"Yousif Subhi,&nbsp;Miklos Schneider,&nbsp;Javad Nouri Hajari,&nbsp;Morten la Cour","doi":"10.1111/aos.16709","DOIUrl":"10.1111/aos.16709","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>The Observe-and-Plan (O&amp;P) regimen allows for individualised treatment. In this study, we evaluated injection burden and intervals using aflibercept in an O&amp;P regimen for eyes with neovascular age-related macular degeneration (AMD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a retrospective registry-based study of treatment-naïve eyes with neovascular AMD. Treatment data were compiled for 3 years after commencement of intravitreal aflibercept therapy. We evaluated clinical consequences at the first follow-up after loading dose, the proportion of patients who obtained and kept dry macula after loading dose, number of injections and intervals between injections.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Data were obtained for 1103 eyes. After loading dose, 0.4% were lost to follow-up, 7.5% discontinued, 50.9% booked for further injections and 41.3% booked for monthly observations. After loading dose, the macula remained dry in 49.2% at 3 months, 34.0% at 6 months, 23.7% at 12 months and 15.2% at 24 months. For the entire population, median cumulative total number of injections was 7, 12 and 15, after 1, 2 and 3 years, respectively. After the 3rd year, the proportion of eyes in the short 4–6 weeks treatment interval was 51.1%, 8 weeks interval was kept in 14.4% and the extended treatment intervals of 10 and 12 weeks was possible in 34.4%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>After loading dose, one in two eyes required further injections. A large proportion required therapy with shorter intervals than the label-recommended 8 weeks. The large majority of those who obtained a dry macula after loading dose turned exudative again, mostly within the first 3 months.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"102 7","pages":"821-827"},"PeriodicalIF":3.0,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140908064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thyroid dysfunction and exudative age-related macular degeneration – A longitudinal nationwide registry-based cohort study","authors":"Lena Boulakh,&nbsp;Jonas L. Isaksen,&nbsp;Henrik Enghusen Poulsen,&nbsp;Jens Faber,&nbsp;Steffen Heegaard,&nbsp;Birte Nygaard,&nbsp;Jørgen Kim Kanters,&nbsp;Peter Bjerre Toft,&nbsp;Patricia Mortens Udholm,&nbsp;Toke Bek,&nbsp;Helena Buch Hesgaard,&nbsp;Christina Ellervik","doi":"10.1111/aos.16705","DOIUrl":"10.1111/aos.16705","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>The association between thyroid dysfunction and exudative age-related macular degeneration (AMD) is unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this Danish longitudinal nationwide registry-based cohort study we included all Danish residents aged 50–100 between 2008 and 2018. Using the Danish national registries, we studied the association between thyroid dysfunction and exudative AMD. Thyroid dysfunction was classified as two consecutive redeemed prescriptions of thyroid hormones (hypothyroidism) or anti-thyroid medication (hyperthyroidism). Exudative AMD was classified as an ICD diagnosis of AMD and a code for anti-VEGF treatment. All patients are treated for exudative AMD in a hospital in Denmark, and we therefore have complete registration of this patient group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 2 087 305 individuals, of which 1 072 567 (51.4%) were women; 59 318 (2.8%) had hypothyroidism, and 33 922 (1.6%) had hyperthyroidism. During a median follow-up of 11 years, 26 998 (1.3%) people developed exudative AMD. Hypothyroidism (adjusted hazard ratio [HR]: 1.17; 95% confidence interval [CI] 1.10–1.25; <i>p</i> &lt; 0.001) and hyperthyroidism (HR: 1.23; 95% CI:1.13–1.34; <i>p</i> &lt; 0.001) were both associated with the development of exudative AMD. The age-stratified analyses yielded similar results to the main analyses, except that the risks were exaggerated in the older part of the population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This is the first longitudinal nationwide study showing that both hypo- and hyperthyroidism are associated with an increased risk of exudative AMD. AMD is a quantitative problem in the population and our findings could have a public health impact. Further studies are needed to study the underlying mechanisms of the association.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"102 7","pages":"813-820"},"PeriodicalIF":3.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/aos.16705","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140874418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.","authors":"Laura Lähteenoja, Tapani Palosaari, Timo Tiirikka, Maria Haanpää, Jukka Moilanen, Aura Falck, Elisa Rahikkala","doi":"10.1111/aos.16701","DOIUrl":"https://doi.org/10.1111/aos.16701","url":null,"abstract":"<p><strong>Purpose: </strong>To report clinical and genetic characteristics of familial exudative vitreoretinopathy (FEVR) in the Finnish population.</p><p><strong>Methods: </strong>Detailed clinical and genetic data of 35 individuals with heterozygous pathogenic variants in FZD4 were gathered and analysed.</p><p><strong>Results: </strong>Thirty-two individuals with FZD4 c.313A>G variant and three individuals with FZD4 c.40_49del were included in the study. The clinical phenotype was variable even among family members with the same FZD4 variant. Only 34% (N = 12/35) of variant-positive individuals had been clinically diagnosed with FEVR. The median age of the onset of symptoms was 2.3 years, ranging between 0 to 25 years. Median visual acuity was 0.1 logMAR (0.8 Snellen decimal), ranging between light perception and -0.1 logMAR (1.25 Snellen decimal). Most (N = 33/35, 94%) were classified as not visually impaired. Despite unilateral visual loss present in some, they did not meet the criteria of visual impairment according to the WHO classification. Two study patients (N = 2/35, 6%) had severe visual impairment. The most common FEVR stage in study patient's eyes (N = 28/70 eyes, 40%) was FEVR stage 1, that is, avascular periphery or abnormal vascularisation. Most of FZD4-variant-positive study patient's eyes (N = 31/50 eyes, 62%) were myopic. Two individuals presented with persistent hyperplastic primary vitreous expanding the phenotypic spectrum of FEVR. Shared haplotypes extending approximately 0.9 Mb around the recurrent FZD4 c.313A>G variant were identified.</p><p><strong>Conclusion: </strong>Most study patients were unaffected or had mild clinical manifestations by FEVR. Myopia seemed to be overly common in FZD4-variant-positive individuals.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140848184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term efficacy and safety of brolucizumab in neovascular age-related macular degeneration: A multicentre retrospective real-world study","authors":"Dong Ju Kim,&nbsp;Dong Geun Kim,&nbsp;Hyun Duck Kwak,&nbsp;Jae Yong Jang,&nbsp;Yong-Sok Ji,&nbsp;Seung Hyun Lee,&nbsp;Eun Kyoung Lee,&nbsp;Kyu Hyung Park,&nbsp;Jae Hui Kim,&nbsp;Jun Sung Lee,&nbsp;Yumi Song,&nbsp;Seong Taeck Kim,&nbsp;Min Ho Shin,&nbsp;Min Kim,&nbsp;Sang Jun Park,&nbsp;Kwangsic Joo,&nbsp;Min Sagong,&nbsp;Christopher Seungkyu Lee,&nbsp;Se Joon Woo","doi":"10.1111/aos.16699","DOIUrl":"10.1111/aos.16699","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>To investigate the long-term efficacy and safety of intravitreal brolucizumab (BRZ) injections in patients with typical neovascular age-related macular degeneration (typical nAMD) and polypoidal choroidal vasculopathy (PCV).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This multicentre retrospective study included 401 eyes of 398 patients with nAMD who received BRZ injection(s), with a follow-up duration of ≥12 months. Changes in best-corrected visual acuity (BCVA), retinal fluid evaluation and central subfield thickness (CST) on optical coherence tomography were assessed. The efficacy of BRZ was compared between typical nAMD and PCV groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Analyses were conducted with 280 eyes of 278 patients with typical nAMD and 121 eyes of 120 patients with PCV (mean age, 71.1 ± 8.6 years). 29 eyes (7.2%) were treatment naïve. The mean follow-up period was 15.3 ± 2.8 months; the mean number of BRZ injections within 1 year was 4.5 ± 1.7. BCVA was maintained during the follow-up period, and CST significantly improved from the first injection month and was maintained for 12 months in both the typical nAMD and PCV groups. The dry macula proportion increased from 2.7% at baseline to 56.1% at 1 month and 42.9% at 12 months. Among the 18 eyes that underwent indocyanine green angiography both before and after treatment, 10 (55.6%) showed polyp regression. Overall, the incidence of intraocular inflammation (IOI), retinal vasculitis and occlusive retinal vasculitis was 9.4% (38 eyes), 1.2% (5 eyes) and 0.5% (2 eyes), respectively. IOI occurred from the first to the sixth injections, with an average IOI onset of 28.5 ± 1.4 days. All eyes achieved IOI resolution, although the two eyes with occlusive retinal vasculitis showed a severe visual decline after IOI resolution.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Brolucizumab was effective in maintaining BCVA and managing fluid in eyes with nAMD for up to 1 year, exhibiting a high polyp regression rate. However, the not uncommon incidence of IOI and the severe visual decline caused by the rare occlusive retinal vasculitis following BRZ treatment underscore the importance of careful monitoring and timely management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"102 7","pages":"e1018-e1028"},"PeriodicalIF":3.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140846358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The VL Nordic Congress of Ophthalmology 2024","authors":"Kai Kaarniranta,&nbsp;Einar Stefánsson","doi":"10.1111/aos.16703","DOIUrl":"10.1111/aos.16703","url":null,"abstract":"&lt;p&gt;The VL Nordic Congress of Ophthalmology (NOK) will be held on 5–8 August 2024, in Kuopio, Finland (www.nok2024.fi). The NOK is a joint program of the Danish, Finnish, Iceland's, Norwegian and Swedish Ophthalmology Societies, represented by the NOK Committee. The NOK concept was first proposed by the Finnish ophthalmologist Gustaf A. Nordman (Ehinger and Grzybowski &lt;span&gt;2011&lt;/span&gt;). He was the first President of the Finnish Ophthalmological Society in 1911 (Kivelä, &lt;span&gt;2012&lt;/span&gt;). Officially, NOK was initiated by Swedish ophthalmologist and Nobel laureate Allvar Gullstrand at the 9th International Ophthalmological Congress in Utrecht in 1899. The first NOK meeting was organized by Allvar Gullstrand and held 1 year later in Stockholm. Allvar Gullstrand is the only ophthalmologist who has won a Nobel Prize (Ehinger &amp; Grzybowski, &lt;span&gt;2011&lt;/span&gt;). The second NOK meeting was held in Copenhagen in 1903, and the third meeting was planned in Kristiania in 1906. In the meantime, Norway became a free country, and the meeting was postponed until 1907 (Ehinger &amp; Grzybowski, &lt;span&gt;2011&lt;/span&gt;; Seregard, &lt;span&gt;2014&lt;/span&gt;). Currently, the NOK is held biennially instead of the original 3-year interval. An assortment of world crisis has forced NOK postponements (Seregard, &lt;span&gt;2014&lt;/span&gt;). The longest rest period (9 years) took place during World War II, and the COVID-19 pandemic postponed NOK from 2020 to 2022 in Reykjavik.&lt;/p&gt;&lt;p&gt;The Acta Ophthalmologica Award 2024 will be given to Professor Jesper Hjortdal (Denmark) for his achievements in cornea research. The KKK Lundsgaard Silver Medal will be given for the best Acta Ophthalmologica publication during the last 2 years between NOK congresses. This time, the best publication prize during the 2022–2024 follow-up period goes to Sirks MJ, van Dijk EHC, Rosenberg N, Hollak CEM, Aslanis S, Cheung CMG, Chowers I, Eandi CM, Freund KB, Holz FG, Kaiser PK, Lotery AJ, Ohno-Matsui K, Querques G, Subhi Y, Tadayoni R, Wykoff CC, Zur D, Diederen RMH, Boon CJF, Schlingemann RO in Netherlands, Sweden, Singapore, Israel, Switzerland, United States, Germany, United Kingdom, Italy, Denmark and France (Sirks et al., &lt;span&gt;2022&lt;/span&gt;). The authors discussed the clinical impact of the worldwide shortage of verteporfin.&lt;/p&gt;&lt;p&gt;The scientific program of NOK 2024 consists of 36 sessions, of which 2 are keynotes, 25 symposia, 1 course, 6 industry-organized lunch symposiums, Acta Ophthalmologica Gold and Silver Medal donation ceremony, posters and free paper short talks. Keynote talks will be by Professors Jennifer Thorne from the Wilmer Eye Institute for uveitis and Prof. Rikhard Spaide at Vitreous, Retina, Macula Consultants of New York, who updates current retina diseases. Two symposia have been organized together with Baltic colleagues.&lt;/p&gt;&lt;p&gt;Acta Ophthalmologica and the European Association for Vision and Eye Research (EVER) signed a collaboration agreement in 2006 (Kaarniranta and Stefánsson &lt;span&gt;2021&lt;/span&gt;)","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"102 5","pages":"504-505"},"PeriodicalIF":3.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/aos.16703","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140830731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}