American Journal of Ophthalmology最新文献

{"title":"Axial Length, Refraction, and the Language of Ophthalmology.","authors":"Ta Chen Peter Chang,Charles F Bartlett,Arif O Khan","doi":"10.1016/j.ajo.2026.04.022","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.04.022","url":null,"abstract":"PURPOSETo examine the historical and conceptual divergence between refractive terminology (myopia, hyperopia, emmetropia) and ocular axial length, to quantify the relative contributions of axial length and other biometric components to refractive error, and to propose linguistic and clinical strategies to improve precision in ophthalmic communication.DESIGNPerspectives RESULT: Historical review shows refractive terms originated as descriptors of visual function rather than globe anatomy; only in the 19th century did axial elongation become linked to myopia. Contemporary biometric and modeling studies demonstrate that axial length is the dominant single contributor to refractive error but is not determinative. Population analyses report moderate-to-strong correlations between spherical equivalent and axial length and stronger correlations with composite indices such as the axial length-to-corneal radius ratio; axial length alone explains roughly 29% of refractive variance, the axial length-to-corneal radius ratio approximately 56%, while multivariable models incorporating axial length, corneal curvature, anterior chamber depth, and lens power account for >99% of variance. Therefore, the Greek-derived terms dolichophthalmia (\"long eye\") and brachyophthalmia (\"short eye\") more accurately denote globe dimensions compared to refractive terminology, while finding an appropriate term to describe an eye with \"normal\" or \"typical\" axial length remains challenging.CONCLUSIONRefractive state and axial length are related but distinct constructs. Greater precision - by specifying structural contributors (axial, lenticular, corneal) or reporting biometric measures relative to age-adjusted norms, and by adopting anatomically explicit terminology - will improve clinical communication, risk assessment, and research clarity.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"66 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147751362","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":"Reply to comment on: Prediction of 9 artificial intelligence-based intraocular lens power calculation formulas in long Caucasian eyes.","authors":"Wiktor Stopyra, Oleksiy Voytsekhivskyy, Andrzej Grzybowski, Li Wang, Douglas D Koch","doi":"10.1016/j.ajo.2026.04.017","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.04.017","url":null,"abstract":"","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147759373","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":"Vitamin B intake is associated with lower incidence of open-angle glaucoma: the Rotterdam Study.","authors":"Maurits T van Haarlem,Karin A van Garderen,Victor A De Vries,Frank J A van Rooij,Caroline C W Klaver,Joëlle E Vergroesen,Wishal D Ramdas","doi":"10.1016/j.ajo.2026.04.020","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.04.020","url":null,"abstract":"OBJECTIVEThere is increasing evidence that B-vitamins may be important for open-angle glaucoma (OAG) prevention due to their roles in neuroprotection, vascular health, and the regulation of homocysteine metabolism, which may influence optic nerve integrity and intraocular pressure (IOP). Therefore, we examined the association between dietary intake of B-vitamins and incident OAG (iOAG).DESIGNWe used data from the Rotterdam Study, a prospective, population-based cohort study in the Netherlands.PARTICIPANTSWe included participants who were free of OAG at baseline, had at least one ophthalmic follow-up, and complete data on dietary intake. Among 6,742 participants (mean [standard deviation]; age, 62.4 [7.4] years; 58.2% female), 162 developed iOAG.METHODSThe associations between energy-adjusted dietary intake of B-vitamins and iOAG, IOP, retinal nerve fiber layer (RNFL) thickness, and ganglion cell layer (GCL) thickness were assessed using multivariable logistic and linear regression analyses, respectively. All analyses were adjusted for at least age, sex, caloric intake, diet quality, and follow-up time.MAIN OUTCOME MEASURESThe primary outcome was iOAG. Secondary outcomes included IOP, RNFL thickness, and GCL thickness.RESULTSDietary intakes of niacin (vitamin B3; odds ratio [OR] with corresponding 95% confidence interval [CI]: 0.94 [0.90-0.98] per mg/day) and cobalamin (vitamin B12; OR [95%CI]: 0.90 [0.83-0.97] per µg/day) were significantly associated with decreased iOAG. Participants with the highest niacin intake (Q5, mean crude intake: 23.27 mg/day) had a significantly lower risk of iOAG (OR [95%CI]: 0.43 [0.21-0.86], p-trend=0.02) compared to those with the lowest intake (Q1, mean crude intake: 9.98 mg/day). A similar association was observed for cobalamin (Q5 [mean crude intake: 10.47 µg/day] vs. Q1 [mean crude intake: 0.19 µg/day], OR [95%CI]: 0.25 [0.12-0.52], p-trend<0.001). Moreover, there was a significant trend towards a lower IOP with higher niacin (p-trend=0.04) and cobalamin (p-trend=0.03) intake. Additionally, cobalamin intake was associated with increased GCL thickness (Beta [95%CI]: 0.01 [0.00-0.03] µg/day; p-trend=0.002). Other B-vitamins were not associated with iOAG or the OAG-associated outcomes.CONCLUSIONSHigher dietary intake of niacin and cobalamin was associated with a lower risk of iOAG. Niacin supplementation may be recommended to individuals with a high genetic susceptibility for OAG. More research on cobalamin is warranted.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"29 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147743848","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 as a Marker of Systemic Vulnerability and Cause-Specific Mortality in U.S. Adults.","authors":"Taemin Kim,Jonathan Z Liu,Jane Zhou,Andrew J Yang,Michael Sheen,Arianne Parvaresh-Rizi,Celine Chaaya,Chien-Hsiang Weng,Nimesh A Patel","doi":"10.1016/j.ajo.2026.04.019","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.04.019","url":null,"abstract":"OBJECTIVETo determine whether the excess mortality associated with visual impairment (VI) in U.S. adults is driven primarily by non-cardiovascular, non-cancer causes of death rather than cardiovascular or malignant causes.DESIGNPopulation-based cohort study.SUBJECTS, PARTICIPANTS, AND/OR CONTROLSAdults aged 40 years or older participating in the National Health and Nutrition Examination Survey (NHANES) 2001-2008 with measured presenting visual acuity in both eyes and eligibility for linkage to the National Death Index.METHODS, INTERVENTION, OR TESTINGPresenting visual impairment was defined as visual acuity worse than 20/40 in the better-seeing eye using standardized examination protocols. Mortality outcomes were ascertained through December 31, 2019. Survey-weighted Cox proportional hazards models were used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs), adjusting for demographic, socioeconomic, and clinical covariates.MAIN OUTCOME MEASURESAll-cause mortality. Secondary outcomes included non-cardiovascular, non-cancer mortality, cardiovascular mortality, and cancer mortality.RESULTSThe analytic cohort included 11,938 participants, of whom 1,179 (9.9%) had visual impairment at baseline. Over a mean follow-up of 13.2 years, visual impairment was most strongly associated with non-cardiovascular, non-cancer mortality (adjusted HR, 1.55; 95% CI, 1.30-1.84). Visual impairment was also associated with increased all-cause mortality (HR, 1.36; 95% CI, 1.17-1.57) and cardiovascular mortality (HR, 1.33; 95% CI, 1.02-1.72), but not cancer mortality (HR, 0.98; 95% CI, 0.69-1.40). Associations were robust across sensitivity analyses, including exclusion of participants with diabetes, exclusion of early deaths, and alternative visual impairment thresholds.CONCLUSIONSIn this nationally representative cohort, visual impairment was independently associated with increased mortality, driven primarily by non-cardiovascular, non-cancer causes of death. These findings suggest that vision loss may serve as a marker of systemic vulnerability and support integrating vision assessment into chronic disease management and preventive care strategies.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"67 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147743846","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":"Reply to Comment on: Assessing the Fragility of Statistically Significant Outcomes in Randomised Controlled Trials of Minimally Invasive Glaucoma Surgery (MIGS).","authors":"Abdus Samad Ansari,Gus Gazzard","doi":"10.1016/j.ajo.2026.04.011","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.04.011","url":null,"abstract":"","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"100 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147739032","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":"Temporal Incidence of Dry Eye Disease, Visual Disturbances, and Ocular Pain After LASIK vs PRK.","authors":"Sujin Kang,Lomas S Persad,Fasika A Woreta,Sonia H Yoo","doi":"10.1016/j.ajo.2026.04.018","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.04.018","url":null,"abstract":"PURPOSETo compare the incidence and timing of postoperative complications between laser-assisted in situ keratomileusis (LASIK) and photorefractive keratectomy (PRK) within a national clinical registry.DESIGNRetrospective registry-based clinical cohort study.PARTICIPANTS48,892 eyes of 27,372 patients who underwent refractive surgery in the IRIS® Registry (Intelligent Research in Sight).METHODSLASIK and PRK procedures were identified using Healthcare Common Procedure Coding System codes. Postoperative complications, including dry eye disease (DED), visual disturbances, and ocular pain, were identified using International Classification of Diseases codes and analyzed at the eye level. Incidence was evaluated across three postoperative intervals (1 day to 1 month, 1 to 3 months, and 3 to 12 months). Interval-specific incidence rates and incidence rate ratios (IRRs) comparing LASIK and PRK were estimated using multivariable-adjusted Poisson generalized estimating equations.MAIN OUTCOME MEASURESInterval-specific incidence of postoperative complications and comparative IRRs between LASIK and PRK.RESULTSDED was the most frequently documented postoperative complication, occurring in 16.1% of LASIK eyes and 15.6% of PRK eyes over the follow-up period. During the 1 to 3 months interval, LASIK was associated with a lower incidence of DED compared with PRK (IRR, 0.8 [95% confidence interval (CI), 0.7-0.9]). In the first postoperative month, visual disturbances occurred more frequently after PRK (IRR, 0.3 [95% CI, 0.3-0.4]), but differences between procedures were not significant at later intervals. Ocular pain was rare after both procedures, with no consistent differences in early intervals, but showed a lower incidence after LASIK in the 3 to 12 months interval (IRR, 0.5 [95% CI, 0.3-0.9]).CONCLUSIONSPostoperative complication profiles following refractive surgery varied by procedure and postoperative interval. PRK was associated with a higher risk of visual disturbances in the early postoperative period and a higher incidence of DED during the 1 to 3 months interval compared with LASIK. Ocular pain was rare overall but showed a lower incidence after LASIK in the 3 to 12 months interval, whereas most other complication rates were comparable between procedures. Recognition of these temporal patterns may help guide patient counseling, optimize postoperative follow-up strategies, and guide postoperative management during different phases of corneal recovery after refractive surgery.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"18 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147735193","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":"Comment on: Prediction of 9 Artificial Intelligence-based Intraocular Lens Power Calculation Formulas in Long Caucasian Eyes.","authors":"Dianrong Li, Junping Li, Mengyang Yin, Hong Zhang","doi":"10.1016/j.ajo.2026.04.016","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.04.016","url":null,"abstract":"","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147759404","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":"Glucagon-Like Peptide-1 Receptor Agonists and Risk of Systemic and Ocular Vascular Complications in Patients with Type 2 Diabetes and Diabetic Retinopathy.","authors":"Jui Shah,Bhargav Makwana,Krisha Panchal,Vahin Patel,Tirth Patel,Sumanth Khadke,Anushka Verma,Suja Vivekanandan,Yixin Kong,Jagriti Upadhyay,Sourbha S Dani,Kathryn Moynihan Ramsey,Sarju Ganatra,David J Ramsey","doi":"10.1016/j.ajo.2026.04.021","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.04.021","url":null,"abstract":"PURPOSETo evaluate the association of glucagon-like peptide-1 receptor agonists (GLP-1 RAs) use on macrovascular and microvascular outcomes in patients with type 2 diabetes (T2D) and diabetic retinopathy (DR)-a high-risk group often excluded from clinical trials.DESIGNRetrospective, population-based cohort study.PARTICIPANTSAdults aged ≥18 years with T2D (with hemoglobin A1c of ≥6.5%) and a pre-existing diagnosis of DR from the TriNetX research network database between January 1, 2015, and December 31, 2022.METHODSThe study included 173,216 adults with T2D, all of whom had DR, adjusted for baseline characteristics through propensity score matching (PSM) based on whether the individuals received at least two prescriptions of a GLP-1 RA (semaglutide, dulaglutide, liraglutide, exenatide, tirzepatide, or lixisenatide) at least six months apart.MAIN OUTCOME MEASURESCox proportional hazard regression models were used to evaluate the association between GLP-1 RAs and the risk of incident macrovascular and microvascular complications over a two-year follow-up period.RESULTSAfter PSM, 30,613 individuals (mean [SD] age, 61.6 [11.4] years; 53.2% were females) were prescribed GLP-1 RAs. Patients on GLP-1 RAs had a decreased risk of myocardial infarctions (MIs; hazard ratio [HR], 0.65; 95% CI, 0.61-0.69), coronary artery revascularization procedures (HR, 0.75; 95% CI, 0.67-0.84), heart failure exacerbations (HR, 0.78; 95% CI, 0.76-0.81), ischemic strokes (HR, 0.78; 95% CI, 0.74-0.83), lower extremity amputations (HR, 0.78; 95% CI, 0.69-0.88), acute kidney injuries (AKI; HR, 0.68; 95% CI, 0.66-0.71), or the need for renal replacement therapy (RRT; HR, 0.40; 95% CI, 0.36-0.43). Fewer individuals also progressed to proliferative diabetic retinopathy (HR, 0.78; 95% CI, 0.71-0.86), experienced retinal vein occlusions (RVOs; HR, 0.70; 95% CI, 0.61-0.80), or developed neovascular glaucoma (HR, 0.65; 95% CI, 0.47-0.89); no association was observed for retinal artery occlusions (RAOs; HR, 0.85; 95% CI, 0.57-1.26) or cases of non-arteritic ischemic optic neuropathy (NAION; HR, 0.88; 95% CI, 0.54-1.44).CONCLUSIONSIn patients with T2D and pre-existing DR, the use of GLP-1 RAs was associated with a reduced risk of major macrovascular and microvascular complications, including those directly affecting the retina. Future studies are needed to assess the extent to which GLP-1 RAs benefit long-term outcomes.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"18 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147735425","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 Symptoms Lead to Shortest Diagnostic Delay in Biopsy-Proven Giant Cell Arteritis: A Nationwide Veterans Health Study.","authors":"John Placide,Molly Phan,Saron Tedla,Paul S Kay,Kimberly M Winges","doi":"10.1016/j.ajo.2026.04.013","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.04.013","url":null,"abstract":"PURPOSETo evaluate diagnostic delays in biopsy-proven Giant Cell Arteritis (GCA) within the Veterans Health Administration (VHA), with a focus on the impact of presenting symptoms and provider specialty on time to treatment.DESIGNRetrospective, multicenter cohort study.SUBJECTSUsing the VHA Informatics and Computing Infrastructure (VINCI), we identified 24,857 patients with GCA-related diagnostic codes or temporal artery biopsy (TAB) procedures.METHODSA multi-step filtering process, including positive diagnostic coding and pathology-confirmed biopsy report review, yielded 300 cases of biopsy-proven GCA for final analysis. Detailed chart review captured presenting symptoms, initial provider specialty, and diagnostic timeline intervals including symptom onset to clinical visit and visit to corticosteroid initiation. Group comparisons were assessed using the Kruskal-Wallis test.MAIN OUTCOME MEASURESTime from first symptom to initial clinical visit, and time from initial visit to corticosteroid initiation.RESULTSThe cohort was predominantly male (94.3%) and White (89.9%), with a mean age of 75.3 years. The average delay from symptom onset to first clinical encounter was 22 days (SD: 31.9), and from encounter to treatment initiation was 11 days (SD: 26.0). Patients initially evaluated by emergency department or eyecare providers were treated significantly sooner than those seen by primary care. Presenting symptoms influenced timeliness: patients with ocular symptoms, including transient vision loss and visual disturbances, were treated more promptly (mean: 8.3 days from symptom onset) compared to those with headache (12.9 days) or systemic complaints (20.2 days; p < 0.001). Classic symptoms such as scalp tenderness and temporal pain led to the shortest delays following examination. Inflammatory markers such as ESR and CRP were elevated in the majority of cases, while platelet elevation was less frequent.CONCLUSIONSThis is the first national VHA study to evaluate diagnostic delay in biopsy-proven GCA by provider specialty and symptom type. Our findings demonstrate that visual symptoms prompt more rapid diagnosis and treatment, whereas nonspecific symptoms result in significant delays, particularly in primary care settings. These results highlight a need for improved provider education and systematic approaches to recognize and manage GCA in its varied presentations. Early diagnosis remains critical to prevent irreversible vision loss and other complications.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"21 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147733780","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":"Genomic approaches to diagnosis in congenital and developmental cataract: comparison of panel versus whole genome sequencing, diagnostic yield, variant spectrum, genotype-phenotype correlations and implications for counselling.","authors":"I Christopher Lloyd,Sophie Marlowe,Marco Piergentili,P Belen Gomez,Thomas Cullup,Gemma Shireby,Katherine Mazur,Eleanor Hay","doi":"10.1016/j.ajo.2026.03.035","DOIUrl":"https://doi.org/10.1016/j.ajo.2026.03.035","url":null,"abstract":"PURPOSECongenital cataracts are a leading cause of childhood blindness, with clinical impact due both to visual impairment and associated systemic disorders. They exhibit clinical and genetic heterogeneity, with pathogenic variants identified in over 100 genes complicating genotype-phenotype correlation. Accurate molecular diagnosis is essential for prognosis, reproductive counselling and tailored surveillance and management. Whole genome sequencing (WGS) offers advantages over gene panels by detecting a broader spectrum of variants, including copy number changes, structural rearrangements, cryptic variants, and those in repetitive regions, thereby improving diagnostic yield, especially when interpreted through multidisciplinary team meetings (MDTM).METHODSA retrospective review of 119 consecutive patients undergoing genetic testing for congenital cataracts in the North Thames Regional Genetic Laboratory. Genetic analysis was performed using either targeted gene panels in 76 probands (64%), (2016-2021) or WGS in 43 (36%), (2021-2025). Clinical data were extracted to classify cases as syndromic or non-syndromic and assess diagnostic outcomes, with complex cases discussed at MDTM.RESULTSNon-syndromic (isolated/wider ocular) and syndromic cataracts accounted for 52.1% and 47.8% of cases respectively, consistent with previous literature describing frequent multisystem involvement. WGS increased diagnostic yield by 10% compared to gene panels, primarily through detection of variants missed by panel-based approaches. Overall molecular diagnosis was 42%, with higher rates achieved in non-syndromic forms (51.6%).CONCLUSIONWhole genome sequencing appears more effective for establishing diagnosis in congenital cataracts than gene panels, due to its ability to detect diverse pathogenic variants. This is critical for provision of prognosis, reproductive counselling, and further management, especially given the high rate of associated syndromic conditions.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"24 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147731717","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}