American Journal of Ophthalmology最新文献

{"title":"Socioeconomic Status Mediates and Modifies Racial and Ethnic Disparities in Incisional Glaucoma Surgical Outcomes","authors":"Ken Kitayama ,&nbsp;Yusuke Tsugawa ,&nbsp;Akihiro Nishi ,&nbsp;Anne L. Coleman","doi":"10.1016/j.ajo.2025.03.006","DOIUrl":"10.1016/j.ajo.2025.03.006","url":null,"abstract":"<div><h3>PURPOSE</h3><div>To estimate the proportion of racial and ethnic disparities observed in glaucoma surgical outcomes that can be eliminated by curbing differences in socioeconomic status (SES).</div></div><div><h3>DESIGN</h3><div>Retrospective cohort study.</div></div><div><h3>SUBJECTS</h3><div>The entire population of 2016-2018 California (CA) fee-for-service Medicare beneficiaries with a claim for incisional glaucoma surgery (trabeculectomy, tube shunt, or EX-PRESS shunt).</div></div><div><h3>METHODS</h3><div>The primary exposure was race and ethnicity, stratified into: Non-Latinx White (as the reference category), Black, Latinx, Asian/Pacific Islander (PI), and Other. The SES mediator was dichotomized to low vs. nonlow based on dual-eligibility for Medicaid. Outcome (time to failure event) was defined as having a claim for a glaucoma surgery revision or reoperation event.</div></div><div><h3>MAIN OUTCOME MEASURES</h3><div>The total effect (TE) estimated the entire racial and ethnic disparity. The controlled direct effect (CDE) estimated the remaining disparity after fixing SES to nonlow for all, and the proportion eliminated (PE) estimated the proportion of the disparity eliminated after uniform SES assignment. The TE and CDE estimates are interpreted as hazards ratios given time-to-event modeling using Cox proportional hazards.</div></div><div><h3>RESULTS</h3><div>The final analytical sample included a total of 5985 unique CA beneficiaries. After uniformly fixing SES to nonlow, the racial and ethnic disparity for Black patients dissipated most (TE: 1.18, 95% CI: 0.99-1.41; CDE: 1.01, 95% CI: 0.80-1.77), followed by Latinx patients (TE: 1.23, 95% CI: 1.08-1.51; CDE: 1.10, 95% CI: 0.90-1.35), Other race and ethnicity patients (TE: 1.32, 95% CI: 1.03-1.70; CDE: 1.24, 95% CI: 0.91-1.68), and Asian/PI patients (TE: 1.18, 95% CI: 1.02-1.36; CDE: 1.21, 95% CI: 0.99-1.47). The PE estimates suggest that equalizing SES would eliminate varying levels of disparities, with a maximum of 96% for Black patients (PE: 0.96, 95% CI: −0.27 to 2.19), followed by 54% for Latinx patients (PE: 0.54, 95% CI: −0.25 to 1.33), and no significant change for Other race and ethnicity (PE: 0.24, 95% CI: −0.49 to 0.97), and Asian/PI patients (PE: −0.18, 95% CI: −1.11 to 0.75).</div></div><div><h3>CONCLUSIONS</h3><div>We found that SES mediates racial and ethnic disparities in glaucoma surgical outcomes, though by varying amounts by individual racial and ethnic group. Of note, addressing SES differences would eliminate 96% of the disparity for Black beneficiaries.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 249-257"},"PeriodicalIF":4.1,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143612941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Distinctions Between Reticular Pseudodrusen and Drusen: A Genome-Wide Association Study","authors":"Roy Schwartz ,&nbsp;Alasdair N. Warwick ,&nbsp;Anthony P. Khawaja ,&nbsp;Robert Luben ,&nbsp;Hagar Khalid ,&nbsp;Sumita Phatak ,&nbsp;Mahima Jhingan ,&nbsp;Coen de Vente ,&nbsp;Philippe Valmaggia ,&nbsp;Sandra Liakopoulos ,&nbsp;Abraham Olvera-Barrios ,&nbsp;Clara I. Sánchez ,&nbsp;Catherine Egan ,&nbsp;Roberto Bonelli ,&nbsp;Adnan Tufail","doi":"10.1016/j.ajo.2025.03.007","DOIUrl":"10.1016/j.ajo.2025.03.007","url":null,"abstract":"<div><h3>OBJECTIVE</h3><div>To identify genetic determinants specific to reticular pseudodrusen (RPD) compared with drusen.</div></div><div><h3>DESIGN</h3><div>Genome-wide association study (GWAS)</div></div><div><h3>SUBJECTS</h3><div>Participants with RPD, drusen, and controls from the UK Biobank (UKBB), a large, multisite, community-based cohort.</div></div><div><h3>METHODS</h3><div>Participants with RPD, drusen, and controls from the UK Biobank (UKBB), a large, multisite, community-based cohort, were included. A deep learning framework analyzed 169,370 optical coherence tomography (OCT) volumes to identify cases and controls within the UKBB. Five retina specialists validated the cohorts using OCT and color fundus photographs. Several GWAS were undertaken utilizing the quantity and presence of RPD and drusen. Genome-wide significance was defined as <em>P</em> &lt; 5e-8.</div></div><div><h3>MAIN OUTCOMES MEASURES</h3><div>Genetic associations were examined with the number of RPD and drusen within ‘pure’ cases, where only RPD or drusen were present in either eye. A candidate approach assessed 46 previously known AMD loci. Secondary GWAS were conducted for number of RPD and drusen in mixed cases, and binary case-control analyses for pure RPD and pure drusen.</div></div><div><h3>RESULTS</h3><div>The study included 1787 participants: 1037 controls, 361 pure drusen, 66 pure RPD, and 323 mixed cases. The primary pure RPD GWAS identified four genome-wide significant loci: rs11200630 near <em>ARMS2</em>-<em>HTRA1</em> (<em>P</em> = 1.9e-09), rs79641866 at <em>PARD3B</em> (<em>P</em> = 1.3e-08), rs143184903 near <em>ITPR1</em> (<em>P</em> = 8.1e-09), and rs76377757 near <em>SLN</em> (<em>P</em> = 4.3e-08). The latter three are uncommon variants (minor allele frequency &lt;5%). A significant association at the <em>CFH</em> locus was also observed using a candidate approach (<em>P</em> = 1.8e-04). For pure drusen, two loci reached genome-wide significance: rs10801555 at <em>CFH</em> (<em>P</em> = 6.0e-33) and rs61871744 at <em>ARMS2</em>-<em>HTRA1</em> (<em>P</em> = 4.2e-20).</div></div><div><h3>CONCLUSIONS</h3><div>The study highlights a clear association between the <em>ARMS2-HTRA1</em> locus and higher RPD load. Although the <em>CFH</em> locus association did not achieve genome-wide significance, a suggestive link was observed. Three novel associations unique to RPD were identified, albeit for uncommon genetic variants. Further studies with larger sample sizes are needed to explore these findings.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 286-295"},"PeriodicalIF":4.1,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trends in the Incidence of Retinal Artery and Vein Occlusion Before and After COVID-19: A National Study in South Korea (2017-2022)","authors":"JIN CHO ,&nbsp;NANG KYEONG LEE ,&nbsp;JIN YEONG KIM ,&nbsp;CHRISTOPHER SEUNGKYU LEE ,&nbsp;SUK HO BYEON ,&nbsp;SUNG SOO KIM ,&nbsp;SEUNG WON LEE ,&nbsp;YONG JOON KIM","doi":"10.1016/j.ajo.2025.03.005","DOIUrl":"10.1016/j.ajo.2025.03.005","url":null,"abstract":"<div><h3>Purpose</h3><div>This study investigated the incidence of new retinal artery occlusion (RAO) and retinal vein occlusion (RVO) during the coronavirus disease-19 (COVID-19) pandemic compared to pre-outbreak periods in South Korea.</div></div><div><h3>Design</h3><div>Nationwide population-based retrospective cohort study.</div></div><div><h3>Participants</h3><div>Individuals diagnosed with RAO or RVO.</div></div><div><h3>Methods</h3><div>We evaluated data from 326 154 patients diagnosed with RAO (<em>n</em> = 32 028), RVO (<em>n</em> = 304 405), or both (<em>n</em> = 10 279) from January 1, 2017 to December 31, 2022. We calculated the incidence rate ratios (IRR) of RAO and RVO using 2019 as the reference year, making comparisons across the total population and within age and sex subgroups. We examined correlations between the number of new RVO patients and COVID-19 infected or vaccinated persons. Additionally, we compared the systemic characteristics of individuals with RAO and RVO, adjusting for multiple comparisons with Bonferroni correction.</div></div><div><h3>Main Outcome Measures</h3><div>Annual IRRs of RAO and RVO.</div></div><div><h3>Results</h3><div>The IRR for RAO showed no significant increase across all age and sex subgroups. Contrastingly, RVO exhibited a consistent IRR in 2020; however, significant increases were observed in 2021 and 2022 among those aged 20-39 years (adjusted IRR in 2021, 1.22, 95% CI, 1.15-1.29; adjusted IRR in 2022, 1.12, 95% CI, 1.06-1.18) as well as those aged 40-64 years (adjusted IRR in 2021, 1.11; 95% CI, 1.09-1.13; adjusted IRR in 2022, 1.11, 95% CI, 1.08-1.12). No correlations were found between the monthly number of patients with RVO and the number of individuals infected with or vaccinated against COVID-19. Additionally, a higher proportion of patients with RVO having hypertension, diabetes, dyslipidemia, and chronic liver disease were seen in 2021 and 2022, as analyzed by ANOVA with Bonferroni correction.</div></div><div><h3>Conclusions</h3><div>The incidence of RAO did not increase during the COVID-19 outbreak. However, the incidence of RVO increased during the pandemic, especially in 2021 and 2022, with the highest rates observed in the 40-64 years age group, likely linked to increases in metabolic diseases rather than COVID-19 infection and vaccination. Further research is warranted to confirm these findings.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 101-111"},"PeriodicalIF":4.1,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between Visceral Fat Metabolism Score and Cataract Risk in US Adults: National Health and Nutrition Examination Survey 1999 to 2008","authors":"Wen Guo ,&nbsp;Hongfei Xue ,&nbsp;Qing Li ,&nbsp;Zimu Wen ,&nbsp;Zhihuan Zhou ,&nbsp;Yujun Dong ,&nbsp;Meiqin He ,&nbsp;Yankai Li ,&nbsp;Fangfei Li ,&nbsp;Yi Tong","doi":"10.1016/j.ajo.2025.03.010","DOIUrl":"10.1016/j.ajo.2025.03.010","url":null,"abstract":"<div><h3>PURPOSE</h3><div>The present work focused on investigating the relation of visceral fat metabolic score (METS-VF) with cataract prevalence among the American adults.</div></div><div><h3>DESIGN</h3><div>A cross-sectional study.</div></div><div><h3>METHODS</h3><div>This cross-sectional study, based on the U.S. population, used data from the National Health and Nutrition Examination Survey (NHANES) conducted between 1999 and 2008. For assessing the association of METS-VF with cataract, we employed multivariable logistic regression analysis, subgroup analyses, and restricted cubic splines (RCS) analysis for exploring their relation. Additionally, receiver operating characteristic (ROC) curve analysis was conducted to compare the cataract diagnostic abilities of METS-VF, body mass index (BMI), waist circumference (WC), and waist-to-height ratio (WHtR).</div></div><div><h3>RESULTS</h3><div>There were altogether 2,730 participants included, of whom 290 had cataract.METS-VF was significantly related to cataract (<em>P</em> &lt; .001). As METS-VF quartiles increased, cataract prevalence also increased (Q1: 1.90%, Q2: 6.74%, Q3: 10.25%, Q4: 23.61%). After adjusting for all variables, METS-VF still showed positive relation to cataract prevalence (odds ratio (OR) = 3.14, 95% confidence interval (CI): 1.67, 5.93). Subgroup analysis revealed a consistent relationship between METS-VF and cataracts across different groups. The RCS results showed that there was no significant nonlinear relationship between METS-VF and cataracts (<em>P−non−linear</em> = 0.209). ROC curve analysis showed that METS-VF outperformed BMI, WC, and WHtR in cataract prediction.</div></div><div><h3>CONCLUSION</h3><div>METS-VF is significantly positively related to a higher cataract prevalence, and this relationship remains robust across various subgroups. Additionally, METS-VF demonstrates a stronger predictive ability for cataract than BMI, WC, and WHtR.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 184-195"},"PeriodicalIF":4.1,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma","authors":"Ngoc-Quynh Le ,&nbsp;Weixiong He ,&nbsp;Matthew H. Law ,&nbsp;Sarah E. Medland ,&nbsp;David A. Mackey ,&nbsp;Alex W. Hewitt ,&nbsp;Puya Gharahkhani ,&nbsp;Stuart MacGregor","doi":"10.1016/j.ajo.2025.03.011","DOIUrl":"10.1016/j.ajo.2025.03.011","url":null,"abstract":"<div><h3>Objective</h3><div>Rare variants in the <em>MYOC</em> gene are associated with glaucoma risk, with p.Gln368Ter the most common pathogenic variant in Europeans. Genetics-based risk stratification may aid with early diagnosis for glaucoma but it is unclear how best to combine the p.Gln368Ter status with polygenic risk scores (PRS). Our study aimed to examine approaches for identifying p. Gln368Ter carriers using genotyping array data and the utility of integrating p.Gln368Ter status into glaucoma PRS.</div></div><div><h3>Design</h3><div>Retrospective cohort study.</div></div><div><h3>Methods</h3><div>We identified p.Gln368Ter carriers using directly genotyped and imputed data. Results were confirmed in a subset with sequencing data. We evaluated the combined effects of p.Gln368Ter status and PRS in stratified analyses by considering them as two separate factors and as an aggregate score.</div></div><div><h3>Participants</h3><div>A total of 58,452 participants from the Genetics of Glaucoma, the QSkin Sun and Health Study (QSKIN), and CARTaGENE projects, including 6015 with sequencing data.</div></div><div><h3>Main Outcomes and Measures</h3><div>The concordance of direct genotyping, compared with imputation and sequencing for p.Gln368Ter identification.</div></div><div><h3>Results</h3><div>Without appropriate quality control, substantial mis-calling may occur. Nevertheless, the p.Gln368Ter variant could be accurately genotyped in most cases by filtering individuals for call rate and heterozygosity. In 6015 individuals with sequencing data, direct genotyping exhibited perfect concordance with sequencing results. Filtered direct genotyping results showed high agreement with imputed results, with only 16 discrepancies among 57,468 individuals. When quality control is not possible (eg, heterozygosity filtering for an individual), we recommend comparing genotyped and imputed results to ensure accuracy. Incorporating p.Gln368Ter into PRS had additional effects on stratifying high–risk individuals, but did not improve risk prediction for the general population given the variant's rarity. The <em>MYOC</em>-enhanced PRS increased the proportion of p.Gln368Ter carriers classified as high risk from 32.31% to 75.38% in QSKIN and from 38.24% to 79.41% in CARTaGENE.</div></div><div><h3>Conclusions</h3><div>The p.Gln368Ter variant can be genotyped with high accuracy using array data, provided careful quality control measures are implemented. Incorporating p.Gln368Ter into glaucoma PRS improved risk stratification for carriers.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 232-240"},"PeriodicalIF":4.1,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Illness Uncertainty, Burden, and Capacity Among Caregivers of Children With Chronic Uveitis: A Stress and Coping Theory Perspective","authors":"Jiali Huang ,&nbsp;Ruru Liu ,&nbsp;Xi Huang ,&nbsp;Jingyao Dai ,&nbsp;Yijie Chen ,&nbsp;Xiaoxian Zhang ,&nbsp;Yuqin Wang ,&nbsp;Yanyan Chen","doi":"10.1016/j.ajo.2025.03.008","DOIUrl":"10.1016/j.ajo.2025.03.008","url":null,"abstract":"<div><h3>PURPOSE</h3><div>The aim was to determine the relationships among illness uncertainty and caregiver burden and capacity in caregivers of children with chronic uveitis and to determine whether caregiver burden plays a mediating role in the relationship between illness uncertainty and caregiver capacity.</div></div><div><h3>DESIGN</h3><div>This was a cross-sectional study.</div></div><div><h3>METHODS</h3><div>The sample included 134 caregivers of children with chronic uveitis. All paper questionnaires were collected at a tertiary-level eye hospital in Wenzhou Province, China. Demographic and clinical characteristics and the Parents’ Perception of Uncertainty Scale (PPUS), Zarit Burden Interview (ZBI) and Family Caregiver Task Inventory (FCTI) scores were determined. IBM SPSS 26.0, AMOS 26.0 and GraphPad Prism 9.0.0 were used for figure preparation and statistical analyses.</div></div><div><h3>RESULTS</h3><div>Both the PPUS score (<em>r</em> = 0.725, <em>P</em> &lt; .001) and ZBI score (<em>r</em> = 0.756, <em>P</em> &lt; .001) were positively correlated with the FCTI score, indicating that higher levels of illness uncertainty and caregiver burden was significantly correlated with lower caregiver capacity. Illness uncertainty and caregiver burden (both <em>P</em> &lt; .001) were found to be influencing factors of caregiver capacity. Furthermore, the effect of illness uncertainty on caregiver capacity was partly mediated by caregiver burden. The indirect effect was 0.366 (<em>P</em> = .012; 95% CI: 0.102, 0.879), accounting for 40.13% of the total effect.</div></div><div><h3>CONCLUSIONS</h3><div>Our findings revealed that both illness uncertainty and caregiver burden may reduce caregiver capacity among caregivers of children with chronic uveitis. Caregiver burden mediated the relationship between illness uncertainty and caregiver capacity in this population. Therefore, this study alerts health care providers to pay attention to illness uncertainty and caregiver burden, as these factors can help in developing effective interventions to improve caregiver capacity in clinical practice.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 221-231"},"PeriodicalIF":4.1,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations Between Ambient Air Pollution and Five Common Vision-Threatening Ocular Diseases in Middle-Aged and Older Adults: A Large Prospective Cohort Study","authors":"Zhanying Wang ,&nbsp;Yanze Yu ,&nbsp;Yuhao Ye ,&nbsp;Liyin Wang ,&nbsp;Yongle Bao ,&nbsp;Xiaoying Wang ,&nbsp;Xingtao Zhou ,&nbsp;Jing Zhao","doi":"10.1016/j.ajo.2025.03.009","DOIUrl":"10.1016/j.ajo.2025.03.009","url":null,"abstract":"<div><h3>Purpose</h3><div>Ambient air pollution may exacerbate ocular conditions; however, comprehensive research on the effects of various pollutants remains limited. This study aims to evaluate the association between multiple air pollutants and the incidence of five common vision-threatening ocular diseases: cataracts, glaucoma, macular degeneration, diabetic retinopathy, and retinal detachment.</div></div><div><h3>Design</h3><div>Prospective cohort study.</div></div><div><h3>Methods</h3><div>We included 114,930 participants with refractometry at baseline in this prospective cohort study based on data from the UK Biobank. Annual average concentrations of nitrogen oxides (NO<em>_x</em>), nitrogen dioxide (NO₂), and particulate matter (PM) with diameters &lt;2.5 µm (PM_2.5) and &lt;10 µm (PM₁₀) were assessed using land use regression models. Restricted cubic spline models and Cox proportional hazards regression were used to estimate the association between air pollution exposure and ocular disease incidence, with stratified analyses based on myopia status.</div></div><div><h3>Results</h3><div>An interquartile range increase in PM₁₀ and NO<em>_x</em> was significantly associated with a higher risk of diabetic retinopathy among participants with myopia, with hazard ratios of 1.11 (95% confidence interval: 1.01-1.23) and 1.22 (95% confidence interval: 1.02-1.45), respectively. PM₁₀ was linked to a 9% increase in retinal detachment incidence in the myopic population, and PM_2.5 was linked to an 8% increase in glaucoma incidence in the nonmyopic population. High PM₁₀ exposure was associated with a 61% higher risk of diabetic retinopathy in the myopic group. Further stratified analysis revealed that the impact of PM₁₀ on diabetic retinopathy was more pronounced in individuals with low-to-moderate myopia than in those with high myopia. High PM₁₀ exposure also correlated with a 67% higher risk of retinal detachment and a 44% higher risk of macular degeneration in the low-to-moderate myopic population.</div></div><div><h3>Conclusions</h3><div>Exposure to high levels of PM₁₀ was associated with an increased risk of diabetic retinopathy and retinal detachment, highlighting the importance of addressing air pollutants as an intervention for vision-threatening ocular diseases.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 276-285"},"PeriodicalIF":4.1,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity” [Am J Ophthalmol 2020;219:87-100]","authors":"Jacque L. Duncan ,&nbsp;Wendi Liang ,&nbsp;Maureen G. Maguire ,&nbsp;Isabelle Audo ,&nbsp;Allison R. Ayala ,&nbsp;David G. Birch ,&nbsp;Joseph Carroll ,&nbsp;Janet K. Cheetham ,&nbsp;Simona Degli Esposti ,&nbsp;Todd A. Durham ,&nbsp;Laura Erker ,&nbsp;Sina Farsiu ,&nbsp;Frederick L. Ferris III ,&nbsp;Elise Heon ,&nbsp;Robert B. Hufnagel ,&nbsp;Alessandro Iannaccone ,&nbsp;Glenn J. Jaffe ,&nbsp;Christine N. Kay ,&nbsp;Michel Michaelides ,&nbsp;Mark E. Pennesi ,&nbsp;José-Alain Sahel","doi":"10.1016/j.ajo.2025.02.024","DOIUrl":"10.1016/j.ajo.2025.02.024","url":null,"abstract":"","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"273 ","pages":"Pages 265-266"},"PeriodicalIF":4.1,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Errors and Delays in Diagnosing Keratitis Fugax Hereditaria","authors":"ANNAMARI T. IMMONEN ,&nbsp;SABITA KAWAN ,&nbsp;MICHAEL P. BACKLUND ,&nbsp;HEIKKI SAAREN-SEPPÄLÄ ,&nbsp;TERO T. KIVELÄ ,&nbsp;JONI A. TURUNEN","doi":"10.1016/j.ajo.2025.03.004","DOIUrl":"10.1016/j.ajo.2025.03.004","url":null,"abstract":"<div><h3>Purpose</h3><div>To study errors and delays in diagnosing keratitis fugax hereditaria (KFH), an autosomal-dominant periodic corneal autoinflammatory disease caused by the <em>NLRP3</em> variant c.61G&gt;C, by reviewing the medical records of genetically confirmed Finnish patients with KFH and by determining the frequency of the c.61G&gt;C variant in selected biobank samples.</div></div><div><h3>Design</h3><div>A retrospective cohort and a cross-sectional biobank study.</div></div><div><h3>Participants and subjects</h3><div>Medical records of 96 clinically diagnosed, genetically confirmed patients with KFH, and 2010 DNA samples from patients with anterior uveitis, herpes keratitis, nonulcerative keratitis, or corneal opacity in the 2 largest Finnish biobanks.</div></div><div><h3>Methods</h3><div>The age, sex, ocular and other diagnoses, and laboratory results were reviewed in the retrospective cohort. The c. 61G&gt;C variant was genotyped from the biobank samples using restriction fragment length polymorphism analysis. Sanger sequencing was used for validation. The most common causes of anterior uveitis, such as rheumatoid arthritis, or infectious keratitis were exclusion criteria.</div></div><div><h3>Main outcome measures</h3><div>Misdiagnoses and differential diagnoses of KFH, diagnostic delays, and the frequency of the c. 61G&gt;C variant in biobank samples.</div></div><div><h3>Results</h3><div>The most common misdiagnoses in the retrospective cohort were anterior uveitis or anterior chamber cell reaction (40% of patients and 79% of misdiagnoses), conjunctivitis (14% and 27%, respectively), and recurrent corneal erosion (13% and 25%, respectively). Time from the onset of symptoms to KFH diagnosis ranged from 0 to 62 years (median, 19; interquartile range, 8-44). Of the 2010 biobank samples from patients with anterior uveitis, herpes keratitis, nonulcerative keratitis, or corneal opacity without an obvious cause, 12 (0.6%) carried the c.61G&gt;C variant: 11 were diagnosed with anterior uveitis, 1 with unspecified keratitis, and 3 correctly with KFH.</div></div><div><h3>Conclusions</h3><div>KFH in Finland is most likely misdiagnosed as anterior uveitis. We suggest prospectively evaluating the addition of the <em>NLRP3</em> variant c.61G&gt;C to laboratory test packages for differential diagnosis of anterior uveitis. KFH should be considered in the differential diagnosis of anterior uveitis, especially in the Nordic countries and populations originating from them. Symptoms similar to those of KFH may also occur in other <em>NLRP3</em>-linked autoinflammatory syndromes.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 122-130"},"PeriodicalIF":4.1,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epithelial Mapping Efficacy for Subclinical Keratoconus Identification","authors":"BARBARA A. L. DUTRA ,&nbsp;BASSEL HAMMOUD ,&nbsp;BIANCA N. SUSANNA ,&nbsp;LARA ASROUI ,&nbsp;GIULIANO SCARCELLI ,&nbsp;WILLIAM J. DUPPS JR ,&nbsp;J. BRADLEY RANDLEMAN","doi":"10.1016/j.ajo.2025.02.042","DOIUrl":"10.1016/j.ajo.2025.02.042","url":null,"abstract":"<div><h3>PURPOSE</h3><div>To evaluate the utility of automated epithelial thickness metrics to identify subclinical keratoconus (SKC) through epithelial thickness pattern comparisons between normal controls, (SKC), and manifest keratoconus (KC).</div></div><div><h3>DESIGN</h3><div>Retrospective cross-sectional study.</div></div><div><h3>METHODS</h3><div>There were 200 eyes from 200 patients evaluated, including: (1) 100 control eyes from 100 patients with bilaterally normal corneal topography/tomography and slit-lamp examination (controls); (2) 50 eyes from 50 patients with SKC; (3) 50 eyes from 50 patients with KC. Epithelial mapping was performed using anterior segment optical coherence tomography (AS-OCT) imaging (Avanti RTVue XR, Optovue). Area under the receiver operating characteristic (AUROC) curves were used to determine the overall discriminative accuracy of the significant test parameters as described by the area under the curve (AUC) and to calculate the sensitivity and specificity of each parameter.</div></div><div><h3>RESULTS</h3><div>There were no differences between control and SKC groups in any regional OCT epithelial thickness parameter. Among relational epithelial thickness metrics, only superonasal - inferotemporal (SN-IT) value differences reached statistical significance between control and SKC groups (–0.81 μm versus 0.41 μm), but this metric still showed limited performance in differentiating groups (AUROC = 0.68). Most stromal thickness values were significantly different between SKC and controls.</div></div><div><h3>CONCLUSION</h3><div>Epithelial thickness patterns were not effective as a primary metric to identify subclinical keratoconus. Scheimpflug metrics and regional stromal thickness values significantly outperformed epithelial metrics in differentiating both SKC and KC eyes from controls. Epithelial mapping metrics thus appear significantly less sensitive than predicted for subclinical keratoconus detection in early disease manifestations.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 209-220"},"PeriodicalIF":4.1,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}