Acta Ophthalmologica最新文献

{"title":"Normative prospective data on automatically quantified retinal morphology correlated to retinal function in healthy ageing eyes by two microperimetry devices.","authors":"Klaudia Birner, Leonard M Coulibaly, Johannes Schrittwieser, Irene Steiner, Hamza Mohamed, Simon Schürer-Waldheim, Markus Gumpinger, Hrvoje Bogunovic, Ursula Schmidt-Erfurth, Gregor S Reiter","doi":"10.1111/aos.17434","DOIUrl":"https://doi.org/10.1111/aos.17434","url":null,"abstract":"<p><strong>Purpose: </strong>The relationship between retinal morphology, as assessed by optical coherence tomography (OCT), and retinal function in microperimetry (MP) has not been well studied, despite its increasing importance as an essential functional endpoint for clinical trials and emerging therapies in retinal diseases. Normative databases of healthy ageing eyes are largely missing from literature.</p><p><strong>Methods: </strong>Healthy subjects above 50 years were examined using two MP devices, MP-3 (NIDEK) and MAIA (iCare). An identical grid, encompassing 45 stimuli was used for retinal sensitivity (RS) assessment. Deep-learning-based algorithms performed automated segmentation of ellipsoid zone (EZ), outer nuclear layer (ONL), ganglion cell layer (GCL) and retinal nerve fibre layer (RNFL) from OCT volumes (Spectralis, Heidelberg). Pointwise co-registration between each MP stimulus and corresponding location on OCT was performed via registration algorithm. Effect of age, eccentricity and layer thickness on RS was assessed by mixed effect models.</p><p><strong>Results: </strong>Three thousand six hundred stimuli from twenty eyes of twenty patients were included. Mean patient age was 68.9 ± 10.9 years. Mean RS for the first exam was 28.65 ± 2.49 dB and 25.5 ± 2.81 dB for MP-3 and MAIA, respectively. Increased EZ thickness, ONL thickness and GCL thickness were significantly correlated with increased RS (all p < 0.001). Univariate models showed lower RS with advanced age and higher eccentricity (both p < 0.05).</p><p><strong>Conclusion: </strong>This work provides reference values for healthy age-related EZ and ONL-thicknesses without impairment of visual function and evidence for RS decrease with eccentricity and increasing age. This information is crucial for interpretation of future clinical trials in disease.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891335","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":"Brillouin assessment of the crystalline lens in patients with high myopia after long-term implantable collamer lens V4c implantation.","authors":"Yong Ma, Jian Cao, Yanze Yu, Teruko Fukuyama, Yongle Bao, Zhe Zhang, Lingling Niu, Xiaoying Wang, Xingtao Zhou, Jing Zhao","doi":"10.1111/aos.17435","DOIUrl":"https://doi.org/10.1111/aos.17435","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the long-term effects of implantable collamer lens (ICL) V4c on the biomechanical and morphological properties of crystalline lenses in Chinese adults with high myopia using Brillouin microscopy (BM).</p><p><strong>Methods: </strong>In this case-control study, 102 highly myopic eyes from 102 patients (18-48 years, preoperative spherical equivalent (SE): -6.00--21.00 D) were categorised into ICL and control groups, matched by age, axial length (AL), lens thickness (LT) and preoperative SE. The biomechanical and morphological properties of the lenses were measured by BM. Ocular and anterior segment parameters, including AL, anterior chamber depth, volume, angle and LT, were assessed using Pentacam and IOL Master 700.</p><p><strong>Results: </strong>No significant differences were observed in Brillouin morphological parameters between the ICL and control groups, including the width of top plateau (WTP), width of bottom plateau (WBP), bottom-top (B-T), slope of anterior cortex (SAC), and slope of posterior cortex (SPC) (all p > 0.05). A slight decrease in biomechanical metrics (height of plateau, Height) was observed in the ICL group, compared with the control group (p = 0.012). Linear regression analysis revealed age-related changes in morphological metrics among all participants, including WTP (p = 0.0001), WBP (p = 0.0001), and SPC (p < 0.0001), while B-T and SAC were age-independent (both p > 0.05). No age-related changes in Height were observed (p > 0.05).</p><p><strong>Conclusions: </strong>ICL V4c did not significantly alter lens morphology as assessed using BM. A slight decrease in lenticular biomechanics was observed after ICL implantation.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142880911","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":"Is it the right time to promote competency-based European Training Requirements in Ophthalmology? A European Board of Ophthalmology survey.","authors":"Lea Dormegny, Helena Prior Filipe, Ludovic Christophe Dormegny-Jeanjean, Marcin Stopa, Wagih Aclimandos, Rimvydas Asoklis, Huban Atilla, Catherine Creuzot-Garcher, Denise Curtin, Barbara Cvenkel, Lisa Flanagan, Renata Ivekovic, Tero T Kivelä, Rafael Martinez Costa, Sorcha Ní Dhubhghaill, Siegfried Priglinger, Brendan Strong, Joerg Sturmer, Marie José Tassignon, Anna Maino, Tristan Bourcier","doi":"10.1111/aos.17433","DOIUrl":"https://doi.org/10.1111/aos.17433","url":null,"abstract":"<p><strong>Purpose: </strong>To report national practices and recent progress in competency-based medical education (CBME) implementation in ophthalmology across European countries.</p><p><strong>Methods: </strong>A 30-question online survey was emailed to European Union of Medical Specialists (UEMS) ophthalmology section delegates, European Board of Ophthalmology Diploma (EBOD) examiners and presidents of ophthalmology societies affiliated with UEMS/EBO.</p><p><strong>Results: </strong>A total of 230 ophthalmologists with an average age of 54.7 years [30-77] and from 28 countries completed the survey. Half of them had been involved as medical educators for more than 10 years. The majority (74%) exercised their educational role in a University Hospital. Ninety six percent of them dedicated less than 50% of their activity to teaching. A third dedicated more than a half of their activity to patient care. The teaching of skills reported (medical, surgical, research, attitudinal and theoretical knowledge) was significantly better applied than their assessment. While 91% of the respondents found it necessary to harmonize European Training Requirements (ETR) in ophthalmology, competency-based education concepts were rarely implemented in their country (for instance, 8% for CBME; 6% for entrustable professional activities (EPAs) and 3% for ETR).</p><p><strong>Conclusions: </strong>Despite considerable diversity in European residency programmes, post-graduate medical education leaders in ophthalmology agree on the need to find a platform for equivalence in the content of the basic training requirements that constitute the professional identity of a practicing ophthalmologist.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142862514","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":"Association of intravitreal and topical anti-inflammatory therapies on short-term anatomical and functional outcomes following epiretinal membrane surgery.","authors":"Pinja Sutinen, Idan Hecht, Minna Karesvuo, Sohee Jeon, Petteri Karesvuo, Raimo Tuuminen","doi":"10.1111/aos.17430","DOIUrl":"https://doi.org/10.1111/aos.17430","url":null,"abstract":"<p><strong>Purpose: </strong>Here we examine the association of anti-inflammatory therapy with anatomical and functional outcomes of epiretinal membrane surgery.</p><p><strong>Methods: </strong>The study included consecutive patients having gone through epiretinal membrane surgery at Helsinki University Hospital, Finland, between 2017 and 2021. The association of perioperative intravitreal and postoperative topical anti-inflammatory therapies with surgical outcomes was assessed.</p><p><strong>Results: </strong>In total, 214 eyes of 214 patients with a mean age of 71.2 ± 8.2 years were studied. At 1-month, perioperative intravitreal use of triamcinolone acetonide (n = 27) was associated with a significant proportional and absolute improvement in foveal thickness (-15.9 ± 18.4% vs. -4.2 ± 25.6%, p = 0.003 and -86.2 ± 109.6 μm vs. -33.7 ± 94.3 μm, p = 0.004), and central subfield macular thickness (-14.7 ± 16.5% vs. -6.3 ± 16.9%, p = 0.009 and -80.6 ± 102.8 μm vs. -36.1 ± 75.9 μm, p = 0.004) when compared to those without triamcinolone acetonide. Furthermore, best-corrected visual acuity (BCVA) gain showed a non-significant yet corresponding trend favouring intraoperative intravitreal use of triamcinolone acetonide (0.21 ± 0.27 vs. 0.09 ± 0.28 LogMAR units, p = 0.062). Postoperative use of topical non-steroidal anti-inflammatory drugs (NSAIDs) (n = 36) as adjunct therapy showed no significant advantage in anatomical outcomes or BCVA gain when compared to those without NSAIDs (all p > 0.05). Triamcinolone acetonide remained significant for proportional and absolute improvement in foveal thickness (p = 0.019 and p = 0.006) and in central subfield macular thickness (p = 0.013 and p = 0.006) when controlled for confounding factors patient age and gender and topical NSAID use.</p><p><strong>Conclusions: </strong>Intraoperative intravitreal use of triamcinolone acetonide improved short-term anatomical outcomes in patients who underwent epiretinal membrane surgery.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870882","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":"Effects of customized corneal cross-linking on higher-order aberrations in progressive keratoconus and low-grade myopia.","authors":"Jad Hayek, Andreas Viberg, Sofie Elving, Anneli Fredriksson, Anders Behndig","doi":"10.1111/aos.17432","DOIUrl":"https://doi.org/10.1111/aos.17432","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the effects of customized corneal collagen cross-linking (CXL) on higher-order aberrations (HOAs) in keratoconus (KC): vertical coma (VC), horizontal coma (HC), spherical aberration (SA), trefoil (TF) and astigmatism, compared with the same effects in healthy eyes undergoing CXL for low-grade myopia.</p><p><strong>Methods: </strong>This mixed-designed study included 38 eyes of 38 patients with KC, treated and followed prospectively, who received customized epi-on CXL in high oxygen, and a retrospective control group of 23 eyes from 23 patients who underwent central 4-mm CXL treatment for low-grade myopia. VC, HC, SA, TF and keratometry values were obtained from Pentacam HR® measurements at baseline and at 1, 6, 12 and 24 months post-treatment. Statistical analyses included paired T-tests for changes over time and Pearson correlation tests to assess relationships between aberrations, best spectacle-corrected and low-contrast visual acuities (BSCVA and LCVA, respectively) and CXL parameters.</p><p><strong>Results: </strong>Reduced HOAs and improved visual acuities were observed in KC. A 20% reduction in VC was observed at 24 months (from -1.82 ± 1.15 μm to -1.46 ± 1.01 μm; 95% CI: [0.155, 0.629], p = 0.002), while a 17% reduction in HC was observed at 12 months (from -0.35 ± 0.56 μm to -0.29 ± 0.62 μm; 95% CI: [0.003, 0.096], p = 0.037). A positive correlation was found between baseline VC and the level of improvement in VC at 24 months (R² = 0.200, p = 0.015). SA increased by 126% at 24 months (from -0.21 ± 0.62 μm to 0.054 ± 0.52 μm; 95% CI: [0.143, 0.347], p ≤ 0.001). TF and astigmatism did not alter from the treatment. In myopia, the natural positive SA increased by 57% post-treatment (from 0.14 ± 0.061 μm to 0.22 ± 0.076 μm at 24 months; 95% CI: [0.067, 0.098], p ≤ 0.001), while changes in VC and HC were minor and BSCVA remained stable.</p><p><strong>Conclusion: </strong>Customized CXL effectively reduces HOAs in KC. For VC the improvement is larger in cases with higher preoperative VC, indicating that the concept of customization has its intended effect. Accordingly, SA and visual acuities improve in KC whereas CXL for low-grade myopia tends to increase corneal SA unfavourably.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142851881","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":"Photoreceptor-RPE loss ratio and fundus autofluorescence patterns as predictive factors for lesion progression in geographic atrophy.","authors":"Daniel Egger, Barbara Doll, Corinne Gonzalez, Philipp Ahmadzai, Katharina A Heger, Barbara Kreid, Alessio Montuoro, Jasmin Link, Taffeta Chingning Yamaguchi, Marieh Esmaeelpour, Sebastian M Waldstein","doi":"10.1111/aos.17431","DOIUrl":"https://doi.org/10.1111/aos.17431","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the impact of the ratio between photoreceptor (PR) loss and retinal pigment epithelium (RPE) loss on the progression of geographic atrophy (GA) and to explore correlations between abnormal fundus autofluorescence (FAF) patterns and the PR-RPE loss ratio.</p><p><strong>Design: </strong>Single-centre, retrospective case series.</p><p><strong>Methods: </strong>Multimodal images from 87 treatment-naïve patients with GA and a follow-up of 6-24 months were included. Geographic atrophy areas on FAF images and areas of PR-RPE loss on optical coherence tomography images at baseline were manually annotated, and FAF patterns were classified. The impact of these biomarkers on GA progression through month 24 as measured on FAF was evaluated using random slope and intercept models and Spearman correlation coefficients (ρ).</p><p><strong>Results: </strong>Mean square-root GA growth rate was 0.27 ± 0.28 mm per year. Mean PR-RPE loss ratio at baseline was 2.16 ± 1.75. Fundus autofluorescence patterns \"diffuse\" and \"diffuse trickling\" showed higher PR-RPE loss ratios at baseline and contributed statistically significantly to the slope of GA progression (p = 0.01 and p = 0.0019). Baseline GA lesion size was negatively correlated to PR-RPE loss ratios at baseline (ρ = -0.47, p < 0.0001). Overall, GA growth was higher in patients with higher PR-RPE loss ratios at baseline (ρ = 0.35, p = 0.0011), and the ratio's contribution to the slope of GA progression was statistically significant (p = 0.0001).</p><p><strong>Conclusion: </strong>Eyes with higher PR-RPE loss ratios were more likely to exhibit FAF patterns \"diffuse\" and \"diffuse trickling\" and showed higher GA progression rates. Baseline characteristics derived from FAF and OCT images may thus offer information on lesion progression.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142845486","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":"Relationship between the full-field stimulus test and self-reported visual function in patients with retinitis pigmentosa: REPEAT Study report No. 3.","authors":"J S Karuntu, S B A E Tulp, C J F Boon","doi":"10.1111/aos.17427","DOIUrl":"https://doi.org/10.1111/aos.17427","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the relationship between the full-field stimulus test (FST) and self-reported visual function using the Michigan Retinal Degeneration Questionnaire (MRDQ) in patients with retinitis pigmentosa (RP).</p><p><strong>Methods: </strong>In this cross-sectional study, patients with clinically diagnosed RP (n = 31) performed FST to determine retinal sensitivity thresholds for blue, red and white stimuli. The difference between the blue and red thresholds was used to identify photoreceptor mediation type. Patients completed the MRDQ from which disability (Θ) scores were derived across seven visual function domains. Correlations between the FST thresholds and MRDQ domain Θ-scores were analysed using Spearman's rank correlation.</p><p><strong>Results: </strong>The median age was 38.0 years, and photoreceptor mediation was rod-based in 11 patients (35.5%), cone-based in seven patients (22.6%) and mixed in 13 patients (41.9%). The highest disability scores were reported in the domains of 'mesopic peripheral function' and 'scotopic function'. Significant correlations were found between all chromatic stimuli thresholds and the MRDQ domains of 'scotopic function', 'mesopic peripheral function' and 'photopic peripheral function'. The strongest correlations of these domains were observed with the blue FST (p < 0.001). The threshold on blue stimulus FST and age were significant predictors of the domain scores on 'scotopic function' (p < 0.001), 'mesopic peripheral function' (p < 0.001) and 'photopic peripheral function' (p < 0.001).</p><p><strong>Conclusions: </strong>Strong correlations between MRDQ domains related to rod function and FST were found in patients with RP. These findings confirm that FST can be used as an informative and clinically relevant endpoint in RP trials when evaluating therapeutic interventions.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811837","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":"Evaluating the efficacy of AI systems in diabetic retinopathy detection: A comparative analysis of Mona DR and IDx-DR.","authors":"Andrzej Grzybowski, Freya Peeters, Rafael Correia Barão, Piotr Brona, Stef Rommes, Tomasz Krzywicki, Ingeborg Stalmans, Julie Jacob","doi":"10.1111/aos.17428","DOIUrl":"https://doi.org/10.1111/aos.17428","url":null,"abstract":"<p><strong>Purpose: </strong>To compare two artificial intelligence (AI)-based Automated Diabetic Retinopathy Image Assessment (ARIA) softwares in terms of concordance with specialist human graders and referable diabetic retinopathy (DR) diagnostic capacity.</p><p><strong>Methods: </strong>Retrospective comparative study including 750 consecutive diabetes mellitus patients imaged for non-mydriatic fundus photographs. For each patient four images (45 degrees field of view) were captured, centered on the optic disc and macula. Images were manually graded for severity of DR as no DR, any DR (mild non-proliferative diabetic retinopathy [NPDR] or more), referable DR (RDR (more than mild DR)), or sight-threatening DR (severe NPDR or more severe disease and/or clinically significant diabetic macular edema [CSDME]). IDx-DR and MONA DR output was compared with manual grading and with each other.</p><p><strong>Results: </strong>Total sample size was 750 patients, of which 55 were excluded due to ungradable images. Out of the remaining 695 patients 522 (75%) were considered as having no DR by manual consensus grading, and 106 (15%) as having RDR. Agreement between raters varied between moderate to substantial. IDx-DR showed moderate agreement with human grading (k = 0.4285) while MONA DR had substantial agreement (k = 0.6797). Out of 106 patients with a ground truth of RDR, IDx-DR identified 105 and MONA DR identified 99. The sensitivity and specificity rates for RDR detection of IDx-DR were 99.1 and 71.5% compared with MONA DR of 93.4 and 89.3% respectively. Of note, both ARIAs had 100% sensitivity for the detection of STDR.</p><p><strong>Conclusion: </strong>Both ARIAs performed well in this study population, both with sensitivity for RDR screening over 90%, with IDx-DR showing higher sensitivity and MONA DR higher specificity. MONA DR showed superior agreement with human certified graders.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799016","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":"Users of reimbursed glaucoma medications in Finland in 1986-2023: A nationwide study.","authors":"E Lehtonen, A Tuulonen, S Leinonen, K Vepsäläinen, H Uusitalo-Jarvinen","doi":"10.1111/aos.16803","DOIUrl":"https://doi.org/10.1111/aos.16803","url":null,"abstract":"<p><strong>Purpose: </strong>The study evaluates the long-term trends in the number of patients using reimbursed glaucoma medications in Finland.</p><p><strong>Methods: </strong>Reimbursement data of 193 082 new glaucoma patients in 1986-2023 were collected from the registry of Finnish Insurance Institution (Kela). The numbers of new, current and deceased users of reimbursed glaucoma medications in Finland at end of each year were analysed by gender and in different age groups.</p><p><strong>Results: </strong>The number of glaucoma reimbursees per total Finnish population increased 2.5-fold during 37 years. However, in 2015-2023 the data demonstrated an unexpected decelerating trend in the difference between the number of new and deceased users of glaucoma medications (i.e. 'net change' in the medication users). In addition, differences in glaucoma medication users between Finland, other Nordic countries and Scotland were detected.</p><p><strong>Conclusions: </strong>The 37-year period demonstrates an overall increasing trend in the number of glaucoma medication reimbursees in Finland. However, the slowing growth in the net change during the recent years is to the contrary to what has generally been forecasted in Finland and globally. Future studies, including an updated prediction model, will be required to clarify whether the number of glaucoma patients under treatment will increase, or decrease in Finland in future as well as to figure out the reasons for the variations.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799101","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 value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.","authors":"Karl De Geer, Stefan Löfgren, Anna Lindstrand, Malin Kvarnung, Erik Björck","doi":"10.1111/aos.16804","DOIUrl":"https://doi.org/10.1111/aos.16804","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.</p><p><strong>Methods: </strong>Clinical and genetic data from 324 nonrelated IRD index individuals referred for genetic testing in the Stockholm region between 2016 and 2023 were collected retrospectively and analysed by clinical subtype, age of onset and testing period (2016-2020 vs. 2021-2023). Logistic regression was used to calculate odds ratios for age of onset and family history on the likelihood of achieving a molecular diagnosis.</p><p><strong>Results: </strong>The diagnostic yield was 55% and involved 56 genes. In 10% of solved individuals, the molecular diagnosis refined the clinical diagnosis. For each 1-year increase in age of onset, the odds of achieving a molecular diagnosis decreased by 3% (odds ratio 0.97, 95% confidence interval 0.96-0.98). A positive family history doubled the odds (odds ratio 2.1, 95% confidence interval 1.3-3.4). The use of genetic testing increased 2.1-fold and the number of molecular diagnoses increased 1.6-fold relative to the population of the Stockholm region between the two testing periods.</p><p><strong>Conclusion: </strong>This study adds to the knowledge of the clinical and genetic landscape of IRDs in Sweden and establishes age of onset and family history as significant predictors for achieving a molecular diagnosis. Increased genetic testing on a population level substantially increased the number of individuals receiving a molecular diagnosis with a high diagnostic yield compared to other rare diseases.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142790871","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}