American Journal of Ophthalmology最新文献

{"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":"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, Wendi Liang, Maureen G Maguire, Isabelle Audo, Allison R Ayala, David G Birch, Joseph Carroll, Janet K Cheetham, Simona Degli Esposti, Todd A Durham, Laura Erker, Sina Farsiu, Frederick L Ferris, Elise Heon, Robert B Hufnagel, Alessandro Iannaccone, Glenn J Jaffe, Christine N Kay, Michel Michaelides, Mark E Pennesi, José-Alain Sahel","doi":"10.1016/j.ajo.2025.02.024","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.02.024","url":null,"abstract":"","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":" ","pages":""},"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":"","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":"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}

{"title":"Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics","authors":"Sungsoon Hwang ,&nbsp;Sohee Jeon ,&nbsp;Je Moon Yoon ,&nbsp;Se Joon Woo ,&nbsp;Kwangsic Joo ,&nbsp;Yong Je Choi ,&nbsp;Chang Ki Yoon ,&nbsp;Minjeong Kim ,&nbsp;Hyuk Jun Lee ,&nbsp;Suk Ho Byeon ,&nbsp;Christopher Seungkyu Lee ,&nbsp;Jehwi Jeon ,&nbsp;Jin Yeong Kim ,&nbsp;Jinu Han ,&nbsp;Dongheon Surl ,&nbsp;Min Sagong ,&nbsp;Areum Jeong ,&nbsp;Tae Kwann Park ,&nbsp;Hyo Song Park ,&nbsp;Mirinae Kim ,&nbsp;Sang Jin Kim","doi":"10.1016/j.ajo.2025.03.001","DOIUrl":"10.1016/j.ajo.2025.03.001","url":null,"abstract":"<div><h3>Purpose</h3><div>To describe in detail the genetic profile, clinical features, and genotype-phenotype correlation of retinitis pigmentosa GTPase regulator (<em>RPGR</em>)-associated X-linked retinitis pigmentosa (RP) in Koreans.</div></div><div><h3>Design</h3><div>A retrospective multicenter case series.</div></div><div><h3>Methods</h3><div>This study recruited genetically confirmed <em>RPGR</em>-associated X-linked RP patients from nine tertiary hospitals and clinics across Korea. Genetic profiles, age at night blindness onset, visual acuity (VA), visual field radius, ellipsoid zone (EZ) bandwidth, bone spicule pigmentation, fundus autofluorescence (AF) pattern, and genotype-phenotype correlation were analyzed.</div></div><div><h3>Results</h3><div>A total of 133 patients (104 males and 29 females from 107 families) with pathogenic or likely pathogenic <em>RPGR</em> variants were included. The majority of patients (86.5%) had truncating mutations and 72.9% of variants located in the open reading frame 15 regions. In male patients, night blindness onset occurred before the age of 20 in most patients (85%). Worse VA was associated with older age, with the estimated mean best-corrected VA reaching 20/200 by the age of 40 in male. More than half of the male patients in their 30s had the widest visual field diameter of less than 20°, and more than three-quarters of patients over 40 were classified in this category. Complete loss of the EZ band was rare before the age of 30; however, more than half of the patients in their 30s exhibited complete EZ band loss. Bone spicule pigmentation was uncommon before the age of 20 (10% of those under 10 and 35% in their teens), whereas peripheral hypoAF pattern was commonly observed after the age of 10 (22% of those under 10 and 81% in their teens). Female carriers generally exhibited a milder phenotype and showed significantly greater interocular asymmetry compared to males (all <em>P</em> &lt; .001). Truncating variants were associated with worse VA and a higher risk of complete EZ band loss compared to nontruncating variants (<em>P</em> &lt; .001 and <em>P</em> = .031, respectively).</div></div><div><h3>Conclusions</h3><div>This study provides a detailed genetic and age-specific clinical profile of <em>RPGR</em>-related X-linked RP, demonstrating significant differences in phenotypic severity based on the genotype. Our findings provide insights for estimating potential RPGR gene therapy candidate populations, supporting future clinical applications.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 171-183"},"PeriodicalIF":4.1,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584373","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":"Retinal vascularization rate predicts retinopathy of prematurity and remains unaffected by low-dose bevacizumab treatment.","authors":"Emer Chang, Amandeep Josan, Ravi Purohit, Sher A Aslam, Caroline Hartley, Chetan K Patel, Kanmin Xue","doi":"10.1016/j.ajo.2025.02.040","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.02.040","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the rate of retinal vascularisation derived from ultra-widefield (UWF) imaging-based retinopathy of prematurity (ROP) screening as predictor of type 1 ROP and characterise the effect of anti-VEGF therapy on vascularisation rate.</p><p><strong>Design: </strong>Retrospective, consecutive cohort study.</p><p><strong>Subjects: </strong>132 eyes of 76 premature infants with mean gestational age (GA) of 26.0(±2.0SD) weeks and birth weight (BW) of 815(±264) g, who underwent longitudinal UWF imaging for ROP screening.</p><p><strong>Setting/venue: </strong>Level 3 neonatal unit in Oxford, United Kingdom METHODS: The extent of retinal vascularisation on each UWF image was measured as the ratio between 'disc-to-temporal vascular front' and 'disc-to-fovea' distance along a straight line bisecting the vascular arcades. Measurements from ≥3 timepoints plotted against post-menstrual age (PMA) enabled calculation of temporal vascularisation rate (TVR) for each eye. Using TVR, GA and BW as predictors, a machine learning model was created to classify eyes as either Group AB (no ROP and type 2 ROP) or Group C (type 1 ROP). The model was validated in a withheld cohort of 32 eyes (19 infants) of which 8 eyes (5 infants) required treatment. TVR in 37 eyes (20 infants) was compared before and after ultra-low-dose (0.16 mg) intravitreal bevacizumab treatment.</p><p><strong>Main outcome measures: </strong>Rate of retinal vascularisation.</p><p><strong>Results: </strong>Slower retinal vascularisation correlated with increasing ROP severity, with TVR being 29% slower in Group C eyes (n=50) than Group AB eyes (n=33 no ROP and n=49 type 2 ROP) (p=0.04). Our model correctly predicted ROP outcomes of 30/32 eyes, achieving a balanced accuracy of 95.8%. No significant change in TVR was found before and after bevacizumab treatment with mean post-treatment imaging follow-up of 7.7(±7.9) weeks (p=0.60 right eyes, p=0.71 left eyes).</p><p><strong>Conclusions: </strong>UWF imaging-based ROP screening enables quantification of retinal vascularisation rate, which can provide early prediction of type 1 ROP independent of BW and GA. Rate of physiological retinal vascularisation does not appear to be significantly affected by ultra-low-dose anti-VEGF treatment, which has significant implications for the development of peripheral avascular retina and timing of anti-VEGF intervention to prevent disease progression in high risk infants.</p>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584372","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":"Increasing Incidence of Posterior Uveal Melanoma in Scandinavia 1960-2022: A Tri-National Study","authors":"KRISTOFFER NISSEN ,&nbsp;JENS FOLKE KIILGAARD ,&nbsp;MARIA FILI ,&nbsp;STEFAN SEREGARD ,&nbsp;JESINTHA NAVARATNAM ,&nbsp;JØRGEN KROHN ,&nbsp;THOMAS PEDERSEN BÆRLAND ,&nbsp;TRUDE EID ROBSAHM ,&nbsp;NILS EIDE ,&nbsp;GUSTAV STÅLHAMMAR","doi":"10.1016/j.ajo.2025.03.002","DOIUrl":"10.1016/j.ajo.2025.03.002","url":null,"abstract":"<div><h3>Purpose</h3><div>To investigate temporal trends in the incidence of posterior uveal melanoma in Scandinavia (Sweden, Denmark, and Norway) between 1960 and 2022 and explore potential associations with changes in tumor size and patient age at diagnosis.</div></div><div><h3>Design</h3><div>Retrospective, registry‐based cohort study utilizing nationwide data from the 3 Scandinavian countries.</div></div><div><h3>Participants</h3><div>All patients diagnosed with posterior uveal melanoma (choroid or ciliary body) in Sweden (1960-2022), Denmark (1960-2022), and Norway (1993-2022), totaling 10,154 cases. Iris melanomas were excluded.</div></div><div><h3>Methods</h3><div>Crude, age-standardized, and log-transformed age-standardized incidence rates were calculated using direct standardization (1970-1974 population). Linear regression was applied to assess trends in incidence, largest basal diameter (LBD), tumor thickness, and patient age at diagnosis. A multivariate linear regression model tested whether tumor size or patient age accounted for the time-dependent increase in incidence. <em>P</em> values were Bonferroni-adjusted for multiple comparisons.</div></div><div><h3>Main Outcome Measures</h3><div>Crude, age-standardized, and log-transformed age-standardized incidence rates of posterior uveal melanoma.</div></div><div><h3>Results</h3><div>Crude, age-standardized, and log-transformed age-standardized incidence rates increased significantly in all 3 countries. Combined Scandinavian age-standardized rates rose from 5.2 to 6.8 per million inhabitants and year in the 1960s to 6.1-8.7 in the 2010s (slope 0.033; 95% CI: 0.022-0.044). Log-transformed rates showed a similar upward trend (slope 0.002; 95% CI: 0.002-0.003). Tumor size (diameter and thickness) decreased, while patient age at diagnosis increased over time. Multivariate analysis confirmed a time-dependent increase in incidence, independent of tumor size or patient age.</div></div><div><h3>Conclusions</h3><div>Posterior uveal melanoma incidence in Scandinavia has increased since 1960. The linear trend is independent of changes in tumor size or patient age.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 131-141"},"PeriodicalIF":4.1,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584370","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}