American Journal of Ophthalmology最新文献

{"title":"Efficacy of cylindrical annular refractive elements (CARE) spectacle lenses in slowing myopia progression over 2 years.","authors":"Xiaoqin Chen,Min Wu,Cui Yu,Arne Ohlendorf,Wayne Li,Nicole Liu,Youhua Yang,Lihua Li,Padmaja Sankaridurg","doi":"10.1016/j.ajo.2025.06.017","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.06.017","url":null,"abstract":"PURPOSETo evaluate over a 2-year period, the efficacy of spectacle lenses incorporating cylindrical annular refractive elements (CARE) in slowing myopia progression compared to single vision (SV) spectacle wear.DESIGNDouble-masked, multi-center, randomized clinical trial.METHODSA total of 240 Chinese children aged 6-13 yrs, spherical equivalent refractive error (SE) -0.75D to -5.00D were randomized to one of three groups of SV spectacle lens, CARE spectacles (7mm central clear zone surrounded by treatment zone incorporating CARE with mean surface power +4.6D), and CARE S (9mm central clear zone surrounded by treatment zone comprising CARE with mean surface power +3.8D). Cycloplegic SE and axial length (AL) were measured at six-monthly intervals.RESULTSProgression (mean ± SD) in SV wearing eyes after 24 months of SPL wear was -1.15 ± 0.63 D/ 0.59 ± 0.26 mm with SV for SE/AL, respectively. In comparison, myopia progression was significantly slower with both CARE-0.73 ± 0.63D/ 0.40 ± 0.26 mm, p<.0001 and CARE S -0.80 ± 0.56D/ 0.44 ± 0.25 mm, p<.0001. Progression did not differ significantly between CARE lenses. Adjusting for site, group, age, gender and baseline value at 24 months, CARE showed an absolute difference in SE of 0.44D (95% CI: 0.21 to 0.66D) and CARE S 0.41D (95% CI: 0.21 to 0.66D) compared to SV. AL reduction was 0.20 mm (95% CI: 0.10 to 0.30mm) with CARE and 0.17 mm (0.07 to 0.26mm) with CARE S as compared to SV.CONCLUSIONSOver a 2-year period, lenses incorporating CARE significantly slowed myopia progression as compared to SV lenses.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"26 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295801","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":"Socioeconomic Determinants of Unmet Vision Care Needs and Gaps in Eye Examinations in Pediatric Populations from 2016 to 2022: Running Head: Unmet Pediatric Vision Care Needs.","authors":"Saara Khan,Katherine E Bowers,Kara M Cavuoto","doi":"10.1016/j.ajo.2025.06.018","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.06.018","url":null,"abstract":"OBJECTIVETo explore the relationship between socioeconomic factors and unmet vision care needs in children, with a temporal trend analysis including the impact of COVID-19 on eye examinations by an eye doctor.DESIGNCross-sectional trend study PARTICIPANTS: Caregivers of non-institutionalized children ages 0-17 in each state METHODS: Using nationally representative data from the National Survey of Children's Health (NSCH), multivariable logistic regression analysis examined the relationship between forgone vision care and sociodemographic variables and analyzed trends in eye examination history from 2016 to 2022.MAIN OUTCOME MEASURESUnmet vision care needs and eye examination rates by an eye doctor RESULTS: Among children who were unable to obtain necessary vision services, caregivers most frequently cited cost (59.9%), challenges in securing an appointment (47.7%), and eligibility concerns (32.4%) as the primary barriers to care. Children lacking healthcare insurance (OR: 5.11 [2.24, 11.66], p<0.001) or experiencing coverage gaps (OR: 4.73 [2.20, 10.16], p<0.001) were significantly more likely to forgo necessary vision care. Income levels below 400% of the federal poverty level (FPL), especially at 0-99% of the FPL, were associated with a higher likelihood of not receiving needed vision care (OR: 2.56 [1.15, 5.71], p=0.048). Black non-Hispanic populations were significantly less likely to receive needed vision care than White non-Hispanic populations (OR: 2.97 [1.43, 6.16], p=0.003). When contrasting eye examinations by an eye doctor in previous years to 2022, the frequency of children who received examinations was higher across most demographic categories in 2016 compared to examinations in 2022 and were lowest in 2020 during the COVID-19 pandemic.CONCLUSIONSThe study demonstrates a significant relationship between likelihood of receiving necessary vision care in children and socioeconomic factors such as insurance status, income, and race, with decreasing pediatric eye examinations over time that reached a low point in 2020 but started recovering in 2022. These results highlight the critical need for interventions targeting the most at-risk populations to reduce disparities in access to pediatric vision care and prevent long-term visual impairment in children.","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"174 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295861","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: Mitomycin Intravascular Chemoembolization (MICE) for the Treatment of Corneal Neovascularization.","authors":"Karan Multani, Liam D Redden, Kamran M Riaz","doi":"10.1016/j.ajo.2025.06.006","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.06.006","url":null,"abstract":"","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293171","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":"Intraretinal arterial cannulation for central retinal artery occlusion caused by cosmetic facial injection.","authors":"Haibo Li, Shuxin Cai, Ranqing Lin","doi":"10.1016/j.ajo.2025.06.008","DOIUrl":"10.1016/j.ajo.2025.06.008","url":null,"abstract":"","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293170","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":"Eplerenone and Spironolactone for Chronic Central Serous Chorioretinopathy: A Systematic Review and Meta-Analysis","authors":"Ryan S Huang ,&nbsp;Andrew Mihalache ,&nbsp;Ali Benour ,&nbsp;Michele Zaman ,&nbsp;Marko M Popovic ,&nbsp;Peter J Kertes ,&nbsp;Rajeev H Muni ,&nbsp;David Sarraf ,&nbsp;SriniVas R Sadda ,&nbsp;Radha P Kohly","doi":"10.1016/j.ajo.2025.06.012","DOIUrl":"10.1016/j.ajo.2025.06.012","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Topic&lt;/h3&gt;&lt;div&gt;To evaluate the efficacy and safety of mineralocorticoid receptor antagonists (MRAs), specifically eplerenone and spironolactone, in comparison to observation, photodynamic therapy (PDT), and subthreshold micropulse laser (SML) for chronic central serous chorioretinopathy (cCSCR).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Clinical Relevance&lt;/h3&gt;&lt;div&gt;In the context of cCSCR, MRAs are thought to reduce choroidal vascular hyperpermeability and thickness by inhibiting the mineralocorticoid receptor pathways that contribute to fluid accumulation.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;A systematic literature search was performed using Ovid MEDLINE, Embase, and the Cochrane Library from January 2000 to March 2024 for comparative studies evaluating the efficacy of MRAs against other treatment arms for cCSCR. The primary outcome was the best-corrected visual acuity (BCVA) at the last study visit, as well as at specific follow-up timepoints (ie, 1 month, 3 months, 6 months, 12 months). Secondary outcomes included retinal thickness (RT), subretinal fluid (SRF) height, and SRF resolution at the same timepoints. Meta-analyses were performed using a random-effects model, with subgroup analyses performed for eplerenone and spironolactone separately. A &lt;em&gt;P&lt;/em&gt;-value of less than 0.05 was considered statistically significant.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;Thirteen articles (four RCTs reporting on 253 eyes and nine observational studies reporting on 393 eyes, mean follow-up duration = 7.02 ± 3.78 months) were included. The mean BCVA at the last study visit was similar between the MRA and observation groups (WMD=-0.01 logMAR, 95% CI = [−0.05, 0.02], &lt;em&gt;P&lt;/em&gt; = .40, n = 5 studies). However, MRAs resulted in a significantly lower mean SRF height at 1 month (WMD=-69.56 µm, 95% CI [−127.26, −11.86], &lt;em&gt;P&lt;/em&gt; = .02, n = 2 studies), while the observation group had a significantly lower SRF height at 12 months (WMD=48.23 µm, 95% CI [45.99, 50.46], &lt;em&gt;P&lt;/em&gt; &lt; .00001, n = 2 studies). Similarly, MRAs demonstrated a higher rate of SRF resolution at 1 month (RR=4.24, 95% CI = [1.54, 11.72], &lt;em&gt;P&lt;/em&gt; = .005), whereas the observation group showed a higher resolution rate at 12 months (RR=0.45, 95% CI = [0.22, 0.95], &lt;em&gt;P&lt;/em&gt; = .04). On subgroup analysis, spironolactone showed a significantly reduced mean RT at the last study visit compared to observation (WMD = −46.44 µm, 95% CI [−74.76, −18.13], &lt;em&gt;P&lt;/em&gt; = .001, n = 2 studies). When compared to PDT, MRAs were associated with a significantly higher mean SRF height at the last study visit (WMD = 51.99 µm, 95% CI [2.70, 101.27], &lt;em&gt;P&lt;/em&gt; = .04, n = 2 studies). In contrast, efficacy outcomes were largely similar between patients treated with MRAs and SML at the last study visit, with no significant differences in SRF resolution (&lt;em&gt;P&lt;/em&gt; = .22, n = 2 studies).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;MRAs offer short-term benefits in reducing SRF but may have limited long-term durability based on curren","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"278 ","pages":"Pages 22-37"},"PeriodicalIF":4.1,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293169","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":"Artificial Intelligence Deep Learning Models to Predict Spaceflight Associated Neuro-ocular Syndrome (SANS).","authors":"Alex S Huang, Jalil Jalili, Evan Walker, Robert N Weinreb, Steven S Laurie, Brandon R Macias, Mark Christopher","doi":"10.1016/j.ajo.2025.06.009","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.06.009","url":null,"abstract":"<p><strong>Purpose: </strong>To create deep learning artificial intelligence (AI) models for predicting the development of Spaceflight Associated Neuro-ocular Syndrome (SANS) using OCT imaging of the optic nerve head (ONH).</p><p><strong>Design: </strong>Retrospective Analysis.</p><p><strong>Methods: </strong>AI deep learning models were trained to predict SANS onset by using two OCT datasets: pre- and inflight OCT images acquired from astronauts (flight data) and pre- and in-bedrest images from research participants undergoing head-down tilt bedrest (HDTBR) as an Earth-bound model of SANS (ground data). Both datasets were partitioned by participant into training and testing data. Resnet50-based models were trained using exclusively flight data, exclusively ground data, and a combination of both. All models were evaluated based on their ability to predict SANS using only preflight or pre-bedrest imaging in both datasets. Performance was assessed using receiver operating characteristic (ROC) areas under the curve (AUC). Class activation maps (CAMs) were generated to identify impactful image regions.</p><p><strong>Results: </strong>The model trained on flight data achieved an AUC (95% CI) of 0.82 (0.54 - 1.0) on flight data and 0.67 (0.51 - 0.83) on ground data. The ground-trained model achieved an AUC of 0.71 (0.50 - 0.91) on ground data and 0.76 (0.51 - 0.91) on flight data. The combined model achieved an AUC of 0.81 (0.53 - 0.95) and 0.72 (0.52 - 0.92) on flight and ground data, respectively. CAMs identified peripapillary regions of the nerve fiber layer, retinal pigmented epithelium, and anterior lamina surface as most important for predictions.</p><p><strong>Conclusion: </strong>AI models can predict SANS based on preflight OCT imaging with moderate-to-high performance even in this data limited setting. The performance of cross-trained models and similarity in CAMs suggests similarity between SANS-related changes in flight and ground datasets, proving further support that HDTBR is a reasonable Earth-bound model for SANS.</p>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144281965","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":"Treatment of Retinal/Choroidal Vascular Diseases by Sustained Delivery of VEGF Receptor Tyrosine Kinase Inhibitors.","authors":"Dilsher S Dhoot","doi":"10.1016/j.ajo.2025.06.010","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.06.010","url":null,"abstract":"<p><strong>Purpose: </strong>To review current investigational strategies utilizing sustained delivery of VEGF receptor tyrosine kinase inhibitors (TKIs) for the treatment of retinal and choroidal vascular diseases.</p><p><strong>Design: </strong>Narrative review.</p><p><strong>Methods: </strong>A comprehensive review of preclinical and clinical studies evaluating the safety, efficacy, and durability of VEGF receptor TKIs delivered via sustained-release platforms, including intravitreal hydrogel implants, suprachoroidal injections, subcutaneous delivery systems, and oral formulations.</p><p><strong>Results: </strong>Multiple VEGF receptor TKIs, including axitinib, sunitinib, vorolanib, and dendranib, are under evaluation for sustained treatment of neovascular age-related macular degeneration (nAMD), diabetic macular edema (DME), and diabetic retinopathy (DR). Delivery platforms such as bioerodible implants (OTX-TKI/axitinib, EYP-1901/vorolanib), suprachoroidal injections (CLS-AX/axitinib), microparticle suspensions (GB-102/sunitinib), and oral or subcutaneous therapies (X-82, D-4517.2) have demonstrated variable degrees of treatment durability, reduction in anti-VEGF injection burden, and maintenance of anatomic and functional outcomes in early phase studies. Safety profiles have generally been favorable, though certain formulations showed dose-dependent adverse effects.</p><p><strong>Conclusions: </strong>Sustained delivery of VEGF receptor TKIs represents a promising therapeutic paradigm for retinal and choroidal vascular diseases, potentially reducing treatment burden while maintaining efficacy. Continued evaluation through larger, controlled clinical trials is essential to validate these early findings and define the role of these agents in clinical practice.</p>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144281966","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":"Aortic and Carotid Complications in Patients With Giant Cell Arteritis","authors":"J. Anthony Chacko ,&nbsp;Muhammad Z. Chauhan ,&nbsp;Paul H. Phillips ,&nbsp;Raghu H. Ramakrishnaiah ,&nbsp;Joseph G. Chacko","doi":"10.1016/j.ajo.2025.06.001","DOIUrl":"10.1016/j.ajo.2025.06.001","url":null,"abstract":"<div><h3>Purpose</h3><div>To assess the risk of developing aortic aneurysms (AAs) and carotid artery stenosis (CAS) in patients with giant cell arteritis (GCA), particularly among those presenting with and without visual symptoms.</div></div><div><h3>Design</h3><div>Retrospective cohort study.</div></div><div><h3>Subjects</h3><div>A total of 7294 patients aged ≥50 years with biopsy-proven GCA (temporal artery biopsy within 2 weeks of diagnosis and ≥3 prednisone refills) were identified and compared with 265 948 control patients presenting with tension-type headache using the TriNetX US Collaborative Network. A secondary comparison was performed between patients with GCA with (n = 2390) and without (n = 5222) visual symptoms (eg, diplopia, amaurosis fugax, vision loss).</div></div><div><h3>Methods</h3><div>GCA was defined using International Classification of Diseases, 10^th Revision codes M31.5 and M31.6. Patients with a history of other vasculitides, prior AAs, or major thrombotic events were excluded. Propensity score matching was used to balance demographics, socioeconomic factors, comorbidities, substance use, and laboratory/vital parameters, resulting in matched cohorts for each comparison. Adjusted hazard ratios (aHRs) and 95% CIs were estimated using Cox proportional hazards models to account for time to onset of vascular complications.</div></div><div><h3>Main Outcome Measures</h3><div>Primary outcomes were the 5-year risks of (1) thoracic AAs, (2) thoracoabdominal AAs, (3) abdominal AAs, and (4) CAS.</div></div><div><h3>Results</h3><div>After matching, 7252 patients remained in each arm for the primary GCA versus control comparison. Patients with GCA had a significantly higher 5-year risk of any AA (3.59% vs 1.75%; aHR, 1.98; 95% CI, 1.59-2.45), including thoracic (2.23% vs 1.02%; aHR, 2.01; 95% CI, 1.59-2.77), thoracoabdominal (0.32% vs 0.14%; aHR, 3.68; 95% CI, 1.50-9.05), and abdominal (1.80% vs 0.82%; aHR, 2.03; 95% CI, 1.49-2.77). CAS was also elevated in GCA (7.20% vs 4.37%; aHR, 1.59; 95% CI, 1.38-1.84). In the subanalysis of patients with GCA, the 5-year risk of any AA was comparable between those with and without visual symptoms (3.58% vs 3.23%; aHR, 1.14; 95% CI, 0.83-1.57). However, CAS occurred more frequently in patients with GCA presenting with visual symptoms (8.95% vs 7.43%; aHR, 1.24; 95% CI, 1.01-1.53).</div></div><div><h3>Conclusions</h3><div>Patients with GCA demonstrate a substantially increased risk of AAs, particularly thoracic AAs, compared with matched controls. Although having visual symptoms did not correlate with additional aortic risk, they were associated with a higher risk of CAS.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"278 ","pages":"Pages 65-72"},"PeriodicalIF":4.1,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144273952","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":"Artificial Intraocular Lenses―the Halcyon Years as Measured by Individual and Corporate Patentable Innovations","authors":"Trevor Lin ,&nbsp;Lynn E. Harman ,&nbsp;Curtis E. Margo","doi":"10.1016/j.ajo.2025.05.047","DOIUrl":"10.1016/j.ajo.2025.05.047","url":null,"abstract":"<div><h3>Purpose</h3><div>To explore the contributions of individuals and corporate manufacturers to the design of artificial intraocular lenses (IOLs) conferred through patents.</div></div><div><h3>Perspective</h3><div>Historical review and analysis of IOL patents from 1950 through 2000.</div></div><div><h3>Methods</h3><div>The annual number of IOL patents granted to individuals and companies was obtained from an international database on intellectual property. Trends in patents issued in the United States and internationally were compared with lens use from 1950 through 2000. Patent trends were compared with lenses approved for commercial marketing by the Food and Drug Administration (FDA) from 1978 through 2000.</div></div><div><h3>Results</h3><div>From 1970 through 2000, the United States granted 855 patents for IOLs, far greater than the 316 patents issued internationally during the same period. Patents in the United States granted to individuals were merely 6% less than those issued to companies (404 vs 430); only 2.5% (21) were conferred to universities. Beginning in 1989, there was a marked shift in the number of patent rights to corporations rather than individuals.</div></div><div><h3>Conclusions</h3><div>Using patents as a surrogate for creativity in IOL development, the United States played a leading role in artificial lens design. Patents for IOLs first increased when the FDA was authorized to classify them as Class III medical devices, whereas the majority of ownerships shifted from individuals to companies after 1989. The near simultaneous rise in patentable lens innovations with IOL surgery maturating to the standard of care suggests both phenomena were products of earlier transformative events.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"277 ","pages":"Pages 413-419"},"PeriodicalIF":4.1,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144245718","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":"Natural History of Autosomal Recessive IMPG2-associated Retinal Dystrophy.","authors":"Michalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, Fadi Nasser, Michael J Gale, Carmen Ayuso, Omar A Mahroo, Nikolas Pontikos, Zaina Bouzia, Belen Jimenez-Rolando, Ester Carreño, Rigmor C Baraas, Josephine Prener Holtan, Ragnheidur Bragadottir, Alberta A H J Thiadens, Monika Grudzinska Pechhacker, Ajoy Vincent, Elise Héon, Alaa Altalbishi, Ramiro S Maldonado, John Neidhardt, Bohdan Kousal, Petra Lišková, Mette Bertelsen, Lars Michael Larsen, Mark E Pennesi, Susanne Kohl, Bernd Wissinger, Eberhart Zrenner, Andrew R Webster, Michel Michaelides","doi":"10.1016/j.ajo.2025.05.044","DOIUrl":"https://doi.org/10.1016/j.ajo.2025.05.044","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the natural history of autosomal recessive IMPG2-associated retinal dystrophy.</p><p><strong>Study design: </strong>Multi-center international retrospective case series.</p><p><strong>Methods: </strong>Review of clinical notes, retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), and molecular genetic testing, of sixty patients with molecularly confirmed IMPG2-associated retinal dystrophy from 14 tertiary eye centres. Qualitative OCT and FAF imaging analysis.</p><p><strong>Results: </strong>In total, 60 patients from 52 pedigrees with likely disease-causing variants in IMPG2 from 14 tertiary referral centres in 11 countries were ascertained for phenotyping. Twenty-two patients were females (36.7%). Of those with documented age of disease onset, 23% had 'late onset' (>18 years old (yo)) with a mean age of onset of 34.3 yo, and 77% had 'early onset' disease (<18 yo) with a mean age of onset of 10.8 yo. Mean best-corrected visual acuity (BCVA) was 0.55 LogMAR at a mean age of 33 yo. Forty-eight percent of the patients presented with nyctalopia and 38% presented with decreased BCVA. Eighty-eight percent of the patients were myopic. Foveal involvement with atrophic changes was a common finding on OCT and FAF. Fifty-three variants were identified: 13 missense (25%), 12 nonsense (23%), 11 splicing variants (21%), 16 frameshifts (30%), and one large deletion (2%). Twenty-one (40%) of the variants were not previously clinically characterized.</p><p><strong>Conclusion: </strong>Autosomal recessive IMPG2-retinal dystrophy is typically an early onset retinal dystrophy associated with poor visual acuity. Younger patients are more likely to benefit from intervention in future trials due to early macular involvement in most patients.</p>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144245738","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}