American Journal of Ophthalmology最新文献

{"title":"Association of ocular comorbidities on long-term patient-reported outcome measures after multifocal intraocular lens implantation.","authors":"Raimo Tuuminen,Sohee Jeon","doi":"10.1016/j.ajo.2025.10.001","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.10.001","url":null,"abstract":"OBJECTIVETo evaluate the association of ocular comorbidities on long-term patient-reported outcome measures (PROMs) in patients bilaterally implanted with diffractive multifocal intraocular lenses (MFIOLs).DESIGNRetrospective clinical cohort study.SUBJECTSA total of 260 patients who underwent bilateral implantation of MFIOLs with postoperative emmetropia and follow-up exceeding three years.METHODSUncorrected visual acuities at near, intermediate and distance, contrast sensitivities, optical quality, spectacle-independent Visual Function Index (VF-14) questionnaire scores and dysphotopsia (graded 0-100 for glare, halos, and starburst) were measured. Ocular comorbidities included dry eye disease, prior corneal refractive surgery, vitreous opacities, macular disease, non-proliferative diabetic retinopathy, and glaucoma.MAIN OUTCOME MEASURESVF-14 scores at 3 years.RESULTSEyes with comorbidities showed significantly worse uncorrected visual acuities at all distances (all P<0.001), lower Strehl ratio (0.034±0.023 vs. 0.042±0.027, P<0.001), and reduced contrast sensitivity under both photopic (1.33±0.21 vs. 1.40±0.18 area under the log contrast sensitivity function [AULCSF], P=0.001) and mesopic conditions (1.01±0.20 vs. 1.07±0.17 AULCSF, P<0.001) compared with eyes without comorbidities. VF-14 scores were significantly lower in eyes with comorbidities (87.1±13.8 vs. 95.6±5.1; P<0.001), with more glare reported (13.6±25.0 vs. 8.6±19.7; P=0.015). On multivariable analysis with age-, sex-, concomitant ocular comorbidities and MFIOL-type adjustment, dry eye disease, prior refractive surgery, vitreous opacities, and macular disease were independently associated with lower VF-14 scores (all P<0.001). Dry eye disease (B=18.0; 95%CI 8.4-27.6, P<0.001) and vitreous opacities (B=21.1; 95%CI 0.0-42.2, P=0.050) were associated with higher dysphotopsia overall scores. Increasing comorbidity burden, shorter tear-fluid break-up-time (r=0.207, P=0.005), and bilateral macular disease (P<0.001) were further associated with worse VF-14 scores.CONCLUSIONSOcular comorbidities, particularly dry eye disease and vitreous opacities, which cause fluctuating visual disturbances, were associated with greater impairment in PROMs following diffractive MFIOL implantation.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"213 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145246353","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":"Smartphone-Driven Augmented Reality Headset for Low-Light Mobility Assistance in Retinitis Pigmentosa.","authors":"Giovanni Rubegni,Paolo Ferri,Emanuele Mocciardini,Luca Mapelli,Gaetano Savaresi,Rebecca Prandini,Leonardo Colombo,Alessandra Cartocci,Gian Marco Tosi,Luca Rossetti","doi":"10.1016/j.ajo.2025.09.048","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.09.048","url":null,"abstract":"PURPOSETo evaluate the effectiveness of a smartphone-driven augmented reality (AR) headset in expanding the functional visual field and improving mobility performance under low-light conditions in patients with retinitis pigmentosa (RP).DESIGNProspective, single-center before-and after study.SUBJECTSThirty-two patients (18 females, 14 males; median age: 55.5 years) with genetically confirmed typical RP, a binocular uncorrected distance visual acuity (BUVA) of ≥20/200, and VF restricted to <10° in both eyes.METHODSParticipants were assessed at baseline and under AR-assisted conditions. The AR system consisted of XREAL One glasses paired with an iPhone 15. Visual function was evaluated through ETDRS visual acuity, Pelli-Robson contrast sensitivity, and tangent screen perimetry. Functional mobility was assessed using the Multi-Luminance Mobility Test (MLMT). Data were analyzed using paired t-tests and Wilcoxon signed-rank tests.MAIN OUTCOME MEASURESThe primary outcome was the change in MLMT score, secondary outcomes included changes in binocular visual field area, contrast sensitivity, and uncorrected binocular visual acuity (BUVA) with and without the AR device.RESULTSUse of the AR headset resulted in a ∼3.4-fold enlargement in binocular VF (p < 0.001) and a median improvement of 3 points in MLMT score (from median 3 to 6; p < 0.001). The proportion of patients able to complete the MLMT at 1 lux increased from 0% to 88%. While standard minification mode reduced BUVA by 0.58 logMAR (p < 0.001), the 4× mode maintained baseline acuity (p = 0.166) and improved contrast sensitivity (p < 0.001).CONCLUSIONSThis study demonstrates that a consumer-grade AR headset combined with a smartphone can deliver substantial improvements in low-light mobility and visual field function for RP patients, offering a scalable and affordable alternative to conventional low-vision aids. These findings highlight the potential of leveraging consumer technologies for accessible, patient-centered visual rehabilitation.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"108 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145240964","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":"RNFL Thickness in a Population-Based Cohort: The Canadian Longitudinal Study on Aging M2M (Machine-to-Machine) Study.","authors":"Ali Azizi,Douglas R da Costa,Rafael Scherer,Davina A Malek,Gustavo A Samico,Felipe A Medeiros","doi":"10.1016/j.ajo.2025.09.051","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.09.051","url":null,"abstract":"PURPOSETo evaluate factors associated with retinal nerve fiber layer (RNFL) thickness in the Canadian Longitudinal Study on Aging (CLSA) using the Machine-to-Machine (M2M) deep learning model applied to fundus photographs.DESIGNCross-sectional study.SUBJECTSParticipants from the baseline Comprehensive Cohort of the CLSA.METHODSThis study included 28,114 CLSA participants aged 45-85 years with gradable baseline fundus photographs. The M2M model, trained on optical coherence tomography (OCT) data, was applied to estimate RNFL thickness from disc-centered fundus images. For participants with images from both eyes, the mean RNFL thickness of the two eyes was used. Associations between M2M-predicted RNFL thickness and age, sex, ethnicity/race, and self-reported glaucoma were analyzed using linear regression models adjusted for covariates.MAIN OUTCOME MEASURESM2M-predicted RNFL thickness, age, age groups, sex, ethnicity/race, and self-reported glaucoma.RESULTSThe mean age of participants was 62.6 ± 10.1 years, and 51% were women. Self-reported glaucoma was present in 4.8% of the participants. The mean M2M-predicted RNFL thickness was 90.9 ± 9.2 µm. Age was inversely associated with RNFL thickness (Pearson's r = -0.16; p < 0.001), with each additional year associated with a 0.15 µm decrease (p < 0.001); after adjustment for covariates, the association remained significant (β = -0.11; p < 0.001). Participants with self-reported glaucoma exhibited significantly thinner RNFL (82.6 ± 12.9 µm) compared to those without (91.4 ± 8.7 µm; p < 0.001). RNFL thickness was slightly greater in women than in men (p < 0.001), and differences were observed across ethnicity/race groups (p < 0.001).CONCLUSIONSThe M2M model provided robust estimates of RNFL thickness from fundus photographs in a large population-based cohort. The observed associations between RNFL thickness, age, and glaucoma status were consistent with previous OCT-based findings, supporting the utility of the model for scalable structural assessments in epidemiological studies.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"58 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145235742","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":"Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.","authors":"Mark E Pennesi,Alessia Amato,Wayne Tschetter,Ryan Schmidt,Austin D Igelman,David G Birch,Leah D Bennett,Lesley A Everett,Paul Yang,Samuel J Huang","doi":"10.1016/j.ajo.2025.09.052","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.09.052","url":null,"abstract":"PURPOSEThis study aimed to develop and validate a commercially available two-color dark-adapted full field perimetry (2cDAP) protocol to assess rod and cone function in patients with inherited retinal degenerations (IRDs), specifically retinitis pigmentosa (RP). The goal was to establish a widely accessible and reproducible method for measuring rod function for use in evaluating treatment efficacy in clinical trials.METHODSWe developed a 2cDAP protocol using the Octopus 900 Pro perimeter to measure thresholds to 450 nm (blue) and 610 nm (red) stimuli under dark-adapted conditions. The spectral sensitivity difference (SSD) between the stimuli was calculated to determine rod and cone mediation. A cohort of 35 RP patients and 14 normally sighted subjects underwent 2cDAP and standard light-adapted perimetry (LAP) across a standardized 78-point grid. Longitudinal data were collected from 12 RP patients over 12 months.RESULTS2cDAP demonstrated high repeatability in normally sighted subjects and consistent results across institutions. For normally sighted subjects, testing time was approximately 14.1 minutes for the red stimulus, 14.5 minutes for the blue stimulus, and 13.1 minutes for LAP. The testing time for patients with RP was approximately 13.3 minutes for the red stimulus, 13.2 minutes for the blue stimulus, and 12.1 minutes for LAP. The method detected rod-mediated function in retinal regions undetectable by LAP. Longitudinal data showed faster progression rates in rod-mediated loci compared to cone-mediated loci when measured under scotopic with a blue or red stimulus compared to standard white stimuli in mesopic conditions. For dark adapted blue stimuli, the drop in mean sensitivity was from 25.8 dB to 20.4 dB in a year (a -5.4 dB change), compared to the dark adapted red stimulus where mean sensitivity changed from 17.3 dB to 16.9 dB (a -0.4 dB change) and light adapted perimetry with the white stimulus where mean sensitivity changed from 15.6 dB to 14.2 dB (a -1.4 dB change). These findings underscore the utility of 2cDAP in capturing early rod function loss, which is critical for evaluating emerging treatments.CONCLUSIONSOur 2cDAP protocol provides a robust, spatially resolved assessment of photoreceptor function in IRDs. Its ability to differentiate rod and cone contributions, coupled with its accessibility on commercially available equipment, makes it a promising tool for multicenter clinical trials. Future work will focus on refining the protocol, expanding normative databases, and validating the method in larger patient cohorts.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"123 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145235740","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":"Technique: Intraocular lens cartridge-assisted removal of a living anterior chamber parasite in a pediatric patient.","authors":"Thananop L Pothikamjorn,Thanapong Somkijrungroj","doi":"10.1016/j.ajo.2025.09.054","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.09.054","url":null,"abstract":"","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"52 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145235741","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":"Visual Impairment and Risk of All-Cause and Cause-Specific Mortality: Results from Two Prospective Cohort Studies.","authors":"Xing-Xuan Dong,Jia-Yan Kai,Dan-Lin Li,Carla Lanca,Andrzej Grzybowski,Chaofu Ke,Chen-Wei Pan","doi":"10.1016/j.ajo.2025.09.053","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.09.053","url":null,"abstract":"PURPOSETo elucidate the association of visual impairment (VI) on both all-cause and cause-specific mortality.DESIGNPopulation based cohort study METHODS: 12,510 US adults aged 40 years or older from the US National Health and Nutrition Examination Survey (1999-2008) and 95,477 UK adults aged 40 years or older from the UK Biobank (2006-2010). Cox proportional hazards models were used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs). Competing risk models were used to investigate the influence of VI on cause-specific mortality.RESULTSAfter adjusting for socio-demographic information, lifestyle factors and health status, the HR for all-cause mortality was significantly elevated among individuals with VI (US NHANES: HR = 1.63, 95% CI: 1.39-1.91; UK Biobank: HR = 1.25, 95% CI: 1.08-1.44). A significant association between VI and heart disease-specific mortality was observed in the US NHANES (HR = 1.76, 95% CI: 1.33-2.32), which was confirmed in the competing risk analysis (HR = 1.34, 95% CI: 1.12-1.61).CONCLUSIONSVI is associated with elevated hazards of all-cause and heart disease-specific mortality. Early detection and management of VI, integrated with comprehensive cardiovascular risk prevention, may have significant public health implications.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"109 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145235664","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":"Diagnostic Accuracy of EyeArt for Fundus-Based Detection of Diabetic Retinopathy: A Systematic Review and Meta-analysis.","authors":"Ting-Wei Wang,Wei-Ting Luo,Yu-Kang Tu,Yu-Bai Chou,Yu-Te Wu","doi":"10.1016/j.ajo.2025.09.045","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.09.045","url":null,"abstract":"BACKGROUNDDiabetic retinopathy (DR) is a leading cause of preventable blindness globally. Although early detection via routine retinal screening significantly reduces vision loss, screening rates remain suboptimal due to workforce shortages and limited accessibility. Autonomous artificial intelligence (AI) systems such as EyeArt offer an FDA-authorized solution for point-of-care DR screening without ophthalmologist oversight METHODS: We conducted a systematic review and meta-analysis following PRISMA-DTA guidelines to assess the diagnostic accuracy of EyeArt in detecting referable diabetic retinopathy (rDR) from color fundus photographs. Searches of PubMed, Embase, and ClinicalTrials.gov through April 2025 identified eligible studies involving adult populations screened with EyeArt. Sensitivity and specificity were pooled using bivariate random-effects models. Subgroup and applicability analyses were conducted to evaluate heterogeneity and clinical relevance.RESULTSSeventeen studies comprising 162,695 examinations were included. EyeArt demonstrated a pooled sensitivity of 95% (95% CI: 92-97%) and specificity of 81% (95% CI: 74-87%). Subgroup analyses indicated consistent accuracy across study designs, economic settings, healthcare contexts, device types, external validation and image gradability. Specificity varied slightly with vendor involvement.CONCLUSIONAcross 17 real-world studies (162,695 examinations), EyeArt exhibits high diagnostic accuracy for detecting referable diabetic retinopathy (pooled sensitivity 95%, specificity 81%), with high certainty for sensitivity and moderate certainty for specificity. Its consistently strong sensitivity supports autonomous screening in primary care. However, variability in specificity-along with inconsistent reporting/handling of ungradable images-warrants attention and standardized quality-assurance. Successful deployment will depend on workflow/EHR integration, sustainable reimbursement, and targeted implementation in underserved populations to maximize public-health impact.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"40 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145235663","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":"Measuring the costs of strabismus surgery: a time-driven activity-based costing analysis.","authors":"David S Portney,David F Skanchy,Jeremy N Shapiro,Alexander D Valentine,Christopher Gappy,Pamela E Williams","doi":"10.1016/j.ajo.2025.09.055","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.09.055","url":null,"abstract":"OBJECTIVETo determine the costs and cost drivers of strabismus surgery, specifically examining which factors influence the final costs of surgery in relation to their relative reimbursement.DESIGNThis study was an economic analysis of strabismus surgery at a single academic institution using time-driven activity-based costing (TDABC).SUBJECTSStrabismus surgeries, both adult and pediatric, at the University of Michigan during the calendar year 2022 were included for analysis.METHODSSurgical characteristics, time inputs, and supplies expenses were obtained via the electronic health record. Resource cost rates were obtained via internal financial reporting systems and from prior literature. Day of surgery costs were calculated using TDABC. Multivariate regression was completed to estimate surgical factor impact of surgery time and costs.MAIN OUTCOME MEASURESMain outcome measures included surgery time (in minutes) and day-of-surgery costs.RESULTSA total of 690 strabismus surgeries were included, 324 (47%) were pediatric. The average day-of-surgery costs were $4420. There were no significant differences in the TDABC costs between pediatric and adult strabismus surgeries (p = .339) or unilateral versus bilateral surgery (p = .547), though the surgery time was lower for pediatric cases (50.7 minutes versus 56.9 minutes, p < .001). With multivariate regression, individual surgical factors that lowered costs were location at an ambulatory surgery center (-$813) and fellow second surgeon (-$512). Each additional horizontal muscle added $768, vertical muscle $976, and inferior oblique muscle $498. Adjustable suture use added $1023 and reoperations added $823.CONCLUSIONSTDABC analysis identified the average costs of strabismus surgery and allowed for a cost estimate based on various surgical factors. Moreover, the ability to assess individual surgical cost drivers allows for a comparison to Medicare reimbursement, which highlights multiple areas where Medicare reimbursement does not cover the incremental costs of surgery. With growing concerns over the future of pediatric ophthalmology and adult strabismus surgery, ensuring adequate access to care requires a proper understanding of the economics of strabismus surgery.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"81 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145235662","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":"Exogenous Testosterone Use Increases the Risk of Central Serous Chorioretinopathy.","authors":"Emilio M Roig,Leo Arnal,Anish Salvi,Yeabsira Mesfin,Karen M Wai,Eubee Koo,Andrea Kossler,Euna Koo,Ehsan Rahimy,Prithvi Mruthyunjaya,Chase A Ludwig,Hong-Uyen Hua","doi":"10.1016/j.ajo.2025.09.044","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.09.044","url":null,"abstract":"OBJECTIVETo evaluate the association between exogenous testosterone (ExoT) use and central serous chorioretinopathy (CSCR).DESIGNRetrospective observational cohort study using large-scale electronic health record (EHR) data.SUBJECTS/PARTICIPANTSPatients receiving exogenous testosterone therapy, identified from the MarketScan and STARR databases.METHODSData were accessed from two sources: Merative™ MarketScan® Commercial Database, and Stanford's Clinical Data Warehouse (STARR), which aggregates de-identified patient records from Stanford Health Care. Patients on testosterone therapy were included and categorized by CSCR status. Demographic factors such as sex (administrative field), race, and ethnicity were assessed. Laboratory values (testosterone, hematocrit, RBC count, cortisol) were compared in STARR, with limited availability in MarketScan. Logistic regression analyses were performed in MarketScan adjusting for age and sex. A sensitivity analysis restricted to patients exposed to ExoT prior to CSCR diagnosis was also performed.MAIN OUTCOME MEASURESThe primary outcomes were CSCR prevalence and adjusted odds ratios (AOR) for CSCR risk in patients on exogenous testosterone. Secondary outcomes included differences in laboratory values and treatment requirements (photodynamic therapy [PDT] and intravitreal injections).RESULTSIn STARR, individuals with CSCR on exogenous testosterone had significantly higher mean testosterone levels (p=0.001), hematocrit (p=0.022), and RBC counts (p=0.005) compared to those without CSCR. In MarketScan, laboratory values trended in the same direction but were not statistically significant, likely reflecting limited sample sizes. Logistic regression in MarketScan showed that exogenous testosterone was significantly associated with increased CSCR risk (AOR: 8.05; 99% CI: 6.04-10.73). In both datasets, there were no significant differences in treatment rates (PDT or intravitreal injections) between ExoT and non-ExoT users. In a sensitivity analysis restricted to patients who received ExoT prior to CSCR diagnosis, no significant laboratory differences were observed.CONCLUSIONSThis study demonstrates a significant association between exogenous testosterone use and increased CSCR risk, highlighting the importance of monitoring patients on testosterone therapy for potential ocular symptoms, especially among high-risk demographic groups.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"27 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145229131","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":"Ocular manifestations of ROSAH syndrome caused by different mutations of the ALPK1 gene.","authors":"Zixi Sun,Xing Wei,Xiaoxu Han,Huixin Liu,Xuan Zou,Hui Li,Ruifang Sui","doi":"10.1016/j.ajo.2025.09.049","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.09.049","url":null,"abstract":"PURPOSEThis study aims to elucidate the ocular manifestations and disease progression of ROSAH syndrome, which is attributed to different mutations of the ALPK1 gene.DESIGNObservational case series.METHODSA cohort of five patients from four distinct families diagnosed with ROSAH syndrome was recruited for this investigation. Comprehensive ophthalmic assessments were conducted, including best corrected visual acuity (BCVA), fundus photography (FP), B-ultrasound imaging, electroretinography (ERG), optical coherence tomography (OCT), visual field (VF) testing, and fundus autofluorescence (FAF). Additionally, systemic evaluations including abdominal ultrasonography and blood tests were performed. Whole exome sequencing (WES) was utilized to identify pathogenic variants, and in silico algorithms were employed to assess their pathogenicity. The patients were followed up for one to five years to evaluate the progression of the disease.RESULTSThe age of the patients varied from 5 to 33 years, with visual acuity ranging from hand motion to 0.6. All patients exhibited optic disc edema and significant, persistent vitreous inflammatory opacities as observed in B-scan imaging. Each patient presented with retinal dystrophy, characterized by varying degrees of patchy pigment alterations on FP, differing extents of hypo-fluorescence on FAF, concentric reductions in VF, and varying degrees of ellipsoid zone (EZ) signal loss on OCT. ERG results indicated substantial retinal dysfunction, with rod photoreceptor function typically more reduced than that of cone photoreceptors. Three patients were found to carry the recurrent T237M variant of the ALPK1 gene, while two patients from a single family exhibited a novel T237A variant. Notably, individuals with the T237A variant displayed solely ocular manifestations, with no/mild systemic symptoms.CONCLUSIONSROSAH syndrome is characterized by ocular manifestations that include persistent optic disc edema and a gradually progressive retinal degeneration, resembling retinitis pigmentosa (RP). Ocular symptoms may serve as the initial presentation or the exclusive manifestation in patients with ROSAH syndrome. Furthermore, we have identified a novel mutation in the ALPK1 gene that correlates with a relatively mild phenotype of ROSAH syndrome.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"20 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226639","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}