Ophthalmic surgery, lasers & imaging retina最新文献

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Pegcetacoplan for Geographic Atrophy Over 30 Months: Data From OAKS, DERBY, and the GALE Long-Term Extension Study. 30个月以上地理萎缩的Pegcetacoplan:来自OAKS, DERBY和GALE长期扩展研究的数据。
IF 1.1 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-07-01 Epub Date: 2025-05-15 DOI: 10.3928/23258160-20250217-01
Roger A Goldberg, David S Boyer, Frank G Holz, Mathew W MacCumber, Sunir J Garg, David M Brown, Eleonora M Lad, Nathan Steinle, P Singh Rishi, Ian Pearce, Thomas Ach, Ramiro Ribeiro, Chao Li, Daniel Jones, Min Tsuboi, Philip J Ferrone, Caroline R Baumal, Charles C Wykoff
{"title":"Pegcetacoplan for Geographic Atrophy Over 30 Months: Data From OAKS, DERBY, and the GALE Long-Term Extension Study.","authors":"Roger A Goldberg, David S Boyer, Frank G Holz, Mathew W MacCumber, Sunir J Garg, David M Brown, Eleonora M Lad, Nathan Steinle, P Singh Rishi, Ian Pearce, Thomas Ach, Ramiro Ribeiro, Chao Li, Daniel Jones, Min Tsuboi, Philip J Ferrone, Caroline R Baumal, Charles C Wykoff","doi":"10.3928/23258160-20250217-01","DOIUrl":"10.3928/23258160-20250217-01","url":null,"abstract":"<p><strong>Background and objective: </strong>This study will report safety and efficacy of pegcetacoplan for geographic atrophy (GA) secondary to age-related macular degeneration (AMD).</p><p><strong>Patients and methods: </strong>GALE is a phase 3, open-label, multicenter, 36-month extension of the OAKS and DERBY studies. Patients who received pegcetacoplan monthly (PM) or every other month (PEOM) in OAKS or DERBY continued the same regimen in GALE (PM-PM and PEOM-PEOM); sham-observed patients initiated pegcetacoplan, maintaining the same interval.</p><p><strong>Results: </strong>In the first 6 months of GALE, 3.0% of study eyes developed exudative AMD, 1.3% intraocular inflammation, 0.1% ischemic optic neuropathy, and none endophthalmitis. Pegcetacoplan reduced GA growth rate by 39% (PM-PM) and 32% (PEOM-PEOM), with increasing efficacy over time across GA subtypes. In eyes with nonsubfoveal GA, pegcetacoplan reduced GA growth rate by 45% (PM-PM) and 33% (PEOM-PEOM).</p><p><strong>Conclusion: </strong>Pegcetacoplan reduced GA growth rate up to 45% with increasing efficacy over 30 months and demonstrated a favorable safety profile. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:398-406.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"398-406"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optical Coherence Tomography Biomarkers in Epiretinal Membrane. 视网膜前膜的光学相干断层扫描生物标志物。
IF 1.1 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-07-01 Epub Date: 2025-05-12 DOI: 10.3928/23258160-20250416-01
Sonya Besagar, Shravika Chennupati, Xiangyu Ji, Qingxia Chen, Akshay S Thomas, Avni P Finn
{"title":"Optical Coherence Tomography Biomarkers in Epiretinal Membrane.","authors":"Sonya Besagar, Shravika Chennupati, Xiangyu Ji, Qingxia Chen, Akshay S Thomas, Avni P Finn","doi":"10.3928/23258160-20250416-01","DOIUrl":"10.3928/23258160-20250416-01","url":null,"abstract":"<p><strong>Background and objective: </strong>This retrospective, multicenter imaging analysis aims to identify pre-operative optical coherence tomography (OCT) bio-markers of idiopathic epiretinal membrane (ERM) that predict improved postoperative best-corrected visual acuity (BCVA).</p><p><strong>Patients and methods: </strong>Included were 80 eyes of 77 patients who underwent pars plana vitrectomy, membrane peel, and internal limiting membrane peel (PPV/MP/ILMP) for idiopathic ERM. Various preoperative, demographic, and surgical factors were studied, along with multiple preoperative OCT biomarkers.</p><p><strong>Results: </strong>Ellipsoid zone (EZ) disruption and focal retinal nerve fiber layer (RNFL) schisis present on preoperative OCT were associated with an increased likelihood of 2-line visual acuity improvement, independent of preoperative vision, while ERM stage, ectopic inner foveal layers, foveal herniation, central subfield thickness, cystic changes, lamellar hole, and the gap between the ERM and the retinal surface (SUKIMA) were not.</p><p><strong>Conclusion: </strong>Preoperative EZ disruption and RNFL schisis on OCT may identify patients who are more likely to have a meaningful improvement in postoperative visual outcomes for idiopathic ERM. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:422-428.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"422-428"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early Outcomes of Faricimab Treatment for Diabetic Macular Edema in Patients Previously Treated With Anti-VEGF Therapy. Faricimab治疗先前接受抗vegf治疗的糖尿病黄斑水肿患者的早期结果
IF 0.9 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-07-01 Epub Date: 2025-04-18 DOI: 10.3928/23258160-20250228-01
Nitesh Mohan, Andrei Szigiato, Katherine E Talcott, Danny A Mammo, Amy S Babiuch, Peter K Kaiser, Justis P Ehlers, Aleksandra Rachitskaya, Alex Yuan, Sunil K Srivastava, Sumit Sharma
{"title":"Early Outcomes of Faricimab Treatment for Diabetic Macular Edema in Patients Previously Treated With Anti-VEGF Therapy.","authors":"Nitesh Mohan, Andrei Szigiato, Katherine E Talcott, Danny A Mammo, Amy S Babiuch, Peter K Kaiser, Justis P Ehlers, Aleksandra Rachitskaya, Alex Yuan, Sunil K Srivastava, Sumit Sharma","doi":"10.3928/23258160-20250228-01","DOIUrl":"10.3928/23258160-20250228-01","url":null,"abstract":"<p><strong>Background and objective: </strong>The aim of this study was to evaluate the short-term outcomes of switching to intravitreal faricimab injections (IFIs) from prior anti-vascular endothelial growth factor (anti-VEGF) therapy for the treatment of diabetic macular edema (DME).</p><p><strong>Patients and methods: </strong>A retrospective review was done of patients with DME previously treated with anti-VEGF and subsequently switched to IFIs. Optical coherence tomography scans were assessed qualitatively and quantitatively to evaluate intraretinal fluid changes and central subfield thickness (CST).</p><p><strong>Results: </strong>A total of 62 eyes from 41 patients were analyzed with a mean follow-up time of 36.4 ± 14.4 weeks. After receiving three IFIs, treatment interval increased significantly by 3.2 weeks (<i>P</i> < 0.001), CST decreased significantly by 43.8 µm (<i>P</i> = 0.014), and visual acuity remained stable (63.2 vs 64.4 approximate ETDRS letters, <i>P</i> = 0.720). Seventeen eyes (27.4%) were switched back to their prior anti-VEGF agent, with one case of suspected IFI-related uveitis.</p><p><strong>Conclusion: </strong>Faricimab appears to be a viable option for some DME patients who require a change in anti-VEGF therapy. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:408-414.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"408-417"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dropless Vitreoretinal Surgery: A Review and Pooled Analysis. 无下垂玻璃体视网膜手术:回顾和汇总分析。
IF 0.9 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-07-01 Epub Date: 2025-03-01 DOI: 10.3928/23258160-20250214-01
Celine Chaaya, Srujay Pandiri, Sandra Hoyek, Ines Lains, Jared Sokol, Nimesh A Patel
{"title":"Dropless Vitreoretinal Surgery: A Review and Pooled Analysis.","authors":"Celine Chaaya, Srujay Pandiri, Sandra Hoyek, Ines Lains, Jared Sokol, Nimesh A Patel","doi":"10.3928/23258160-20250214-01","DOIUrl":"10.3928/23258160-20250214-01","url":null,"abstract":"<p><p>The aim of this review is to provide an overview of the literature on dropless vitreoretinal surgery. A comprehensive search was conducted using the PubMed database from August 2004 to August 2024 using the following keywords: \"dropless\" and \"vitrectomy\" or \"retinal surgery\" or \"detachment surgery\". Relevant studies included randomized controlled trials (RCTs) and observational studies. Data on protocols, patient characteristics, clinical and visual outcomes and adverse events were collected. Seven studies met the inclusion criteria. Protocols included a range of alternative antimicrobial and anti-inflammatory prophylaxis including intravitreal, intracameral, subconjunctival or sub-Tenon's injection of single-use, compounded medication. The current literature demonstrated no increased rates of endophthalmitis and no increase in intraocular pressure during the post-operative period. In summary, this review pools the current dropless protocols and outcomes for vitreoretinal surgery. There is moderate certainty suggesting non-inferiority, yet there is a need for higher quality supporting evidence and prospective RCTs. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:430-436.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"430-436"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preliminary Experience With a Novel Titanium Macular Buckle in the Management of Myopic Maculopathy. 新型钛系黄斑扣治疗近视黄斑病的初步体会。
IF 0.9 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-06-01 Epub Date: 2025-02-01 DOI: 10.3928/23258160-20250128-02
Ozgur Yalcinbayir, Sengul Ozdek, Ali Hakan Durukan, Mohsen Abou Shousha, Muhammad Samir Abd Al Shafy, Kenan Sonmez, Huseyin Egemen Kose, Ece Ozdemir-Zeydanli, Mohit Garg
{"title":"Preliminary Experience With a Novel Titanium Macular Buckle in the Management of Myopic Maculopathy.","authors":"Ozgur Yalcinbayir, Sengul Ozdek, Ali Hakan Durukan, Mohsen Abou Shousha, Muhammad Samir Abd Al Shafy, Kenan Sonmez, Huseyin Egemen Kose, Ece Ozdemir-Zeydanli, Mohit Garg","doi":"10.3928/23258160-20250128-02","DOIUrl":"10.3928/23258160-20250128-02","url":null,"abstract":"<p><p>The objective of this study was to report the initial experiences of seven surgeons using a titanium macular buckle (TMB) for the treatment of myopic maculopathy. The records of 11 cases that underwent TMB placement, with or without concomitant vitrectomy, were reviewed. Collected data included demographics, type of maculopathy, pre-operative and postoperative ophthalmic findings. The intraoperative utilization of pars plana vitrectomy and any associated complications were also documented. The indications for surgery included posterior pole retinal detachment with maculoschisis, maculoschisis with an epiretinal membrane, myopic macular hole with posterior pole retinal detachment, isolated maculoschisis, and myopic macular hole. Eight of the 11 cases underwent combined titanium macular buckle placement and vitrectomy, while three patients received buckle placement without vitrectomy. Partial or complete resolution of the pathology was achieved in all cases. Best-corrected visual acuity improved in 10 out of 11 cases following surgery. A scleral perforation occurred intraoperatively in one case. The patients were followed up for a mean duration of 6.0 ± 2.3 months (range: 2 to 10 months). TMB may serve as a valuable adjunct in the surgical repair of myopic maculopathy requiring intervention. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:378-381.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"378-381"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Effect of Experience on Visual Search Patterns in Retinal Imaging Analysis. 经验对视网膜成像分析中视觉搜索模式的影响。
IF 0.9 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-06-01 Epub Date: 2025-03-01 DOI: 10.3928/23258160-20250228-03
Puranjay Gupta, Neil Sheth, Reem AlAhmadi, Xincheng Yao, Michael J Heiferman
{"title":"The Effect of Experience on Visual Search Patterns in Retinal Imaging Analysis.","authors":"Puranjay Gupta, Neil Sheth, Reem AlAhmadi, Xincheng Yao, Michael J Heiferman","doi":"10.3928/23258160-20250228-03","DOIUrl":"10.3928/23258160-20250228-03","url":null,"abstract":"<p><strong>Background and objective: </strong>The increasing use of retinal diagnostic imaging necessitates a standardized viewing technique. This study investigates visual search patterns among ophthalmologists at various experience levels using eye-tracking technology.</p><p><strong>Patients and methods: </strong>Participants included postgraduate year 2, 3, and 4 residents, retina fellows, and attending ophthalmologists, who analyzed fundus images while their eye movements were tracked.</p><p><strong>Results: </strong>Results indicated that attendings had shorter fixation durations (0.15 ± 0.04 seconds) and saccade lengths (0.06° ± 0.01°), indicating faster image information processing than novice physicians. Experts also analyzed a higher proportion of the image area (49.43% ± 7.34%) and possessed a global-focal search pattern, suggesting increased thoroughness.</p><p><strong>Conclusion: </strong>Experts in ophthalmology demonstrate gaze characteristics that reflect faster image processing and a more thorough analysis of diagnostic imaging. We recommend that residents be taught a standardized method for image interpretation that emulates expert analysis through a disc-macula-vessel-periphery sequence with radial sweeps. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:336-344.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"336-344"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
RWC Update: Surgical Management of Lamellar Macular Hole; Tamoxifen Retinopathy; Lashed Out: An Eye Injury Story. RWC更新:板层黄斑裂孔的外科治疗它莫西芬视网膜病变;猛烈抨击:一个眼睛受伤的故事。
IF 0.9 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-06-01 DOI: 10.3928/23258160-20250519-01
Ashish Sharma, Lihteh Wu, Steven Bloom, Paulo Stanga, Barbara Parolini, Taku Wakabayashi, Tamer Mahmoud, Christopher Seungkyu Lee, Mauli Shah, Alay Banker, Natasha Ferreira Santos da Cruz, Kourous A Rezaei
{"title":"RWC Update: Surgical Management of Lamellar Macular Hole; Tamoxifen Retinopathy; Lashed Out: An Eye Injury Story.","authors":"Ashish Sharma, Lihteh Wu, Steven Bloom, Paulo Stanga, Barbara Parolini, Taku Wakabayashi, Tamer Mahmoud, Christopher Seungkyu Lee, Mauli Shah, Alay Banker, Natasha Ferreira Santos da Cruz, Kourous A Rezaei","doi":"10.3928/23258160-20250519-01","DOIUrl":"https://doi.org/10.3928/23258160-20250519-01","url":null,"abstract":"","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":"56 6","pages":"324-327"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pseudo-inverted Halo Nevus. 伪倒晕痣。
IF 0.9 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-06-01 Epub Date: 2025-02-01 DOI: 10.3928/23258160-20250109-02
Jared T Sokol, Prithvi Mruthyunjaya
{"title":"Pseudo-inverted Halo Nevus.","authors":"Jared T Sokol, Prithvi Mruthyunjaya","doi":"10.3928/23258160-20250109-02","DOIUrl":"10.3928/23258160-20250109-02","url":null,"abstract":"","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"382-383"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hispanic Ethnicity and Optical Coherence Tomography-based Biomarkers as Predictive Factors of Diabetic Macular Edema Refractory to Bevacizumab. 西班牙裔和基于oct的生物标志物作为贝伐单抗难治性二甲醚的预测因素。
IF 0.9 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-06-01 Epub Date: 2025-03-01 DOI: 10.3928/23258160-20250127-02
Erin Jennings, Dinah Chen, Alexi Geevarghese, Alexis Kaiser, Sara Coulon, Yasha Modi
{"title":"Hispanic Ethnicity and Optical Coherence Tomography-based Biomarkers as Predictive Factors of Diabetic Macular Edema Refractory to Bevacizumab.","authors":"Erin Jennings, Dinah Chen, Alexi Geevarghese, Alexis Kaiser, Sara Coulon, Yasha Modi","doi":"10.3928/23258160-20250127-02","DOIUrl":"10.3928/23258160-20250127-02","url":null,"abstract":"<p><strong>Background and objective: </strong>While anti-vascular endothelial growth factor (anti-VEGF) therapy has revolutionized treatment for diabetic macular edema, many patients still manifest refractory disease. This study evaluated rates of diabetic macular edema (DME) refractory to intravitreal bevacizumab in a diverse real-world setting, with the aim of studying demographic and optical coherence tomography (OCT)-based morphological factors associated with refractory disease.</p><p><strong>Patients and methods: </strong>This was a retrospective cohort study of patients receiving treatment. Refractory DME was defined as a gain in visual acuity of < 5 letters after three consecutive injections of bevacizumab or less than 20% reduction in central retinal thickness (CRT) after three consecutive injections of bevacizumab. OCT images from preand post-injection visits were reviewed by two independent image readers. Multivariate logistic regression analysis evaluated for statistical significance between responders and those refractory to bevacizumab, and between Hispanic and non-Hispanic groups.</p><p><strong>Results: </strong>Ninety-nine patients were included. Of the participants, 42% were Hispanic, 10% were reported as white, 11% were Asian, 11% were Black, and 26% were defined as \"not reported.\" Fifty-four (54.5%) patients were refractory to bevacizumab and 45 were responders. Between responders and refractory patients, race was statistically significant (<i>P</i> = 0.04) with more refractory subjects found to be Hispanic (28/54, 51.9%). OCT morphologic characteristics (CRT, number of hyperreflective foci, disorganization of inner retinal layers, ellipsoid zone discontinuity, and subretinal fluid) were not statistically significant between responders and refractory subjects. Multivariate logistic regression demonstrated an odds ratio of 5.7 for refractory disease for Hispanic patients (CI 1.687 to 19.445, <i>P</i> = 0.01). When comparing Hispanic to non-Hispanic patients, Hispanic patients had an average lower baseline visual acuity, lower CSTs, and higher HbA1C.</p><p><strong>Conclusion: </strong>Our study showed that Hispanic patients have a nearly 6 times relatively higher likelihood of refractory disease. There is a notable under-representation of these patients in completed clinical trials for diabetic retinopathy and DME. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:346-353.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"346-353"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome. 疑为Lamb-Shaffer综合征的儿童双侧虹膜和视网膜结肠瘤1例。
IF 0.9 4区 医学
Ophthalmic surgery, lasers & imaging retina Pub Date : 2025-06-01 Epub Date: 2025-03-01 DOI: 10.3928/23258160-20250228-02
Lauren N Hucko, Natasha F S da Cruz, Pavlina S Kemp, Carlos E Mendoza-Santiesteban, Audina M Berrocal
{"title":"Bilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.","authors":"Lauren N Hucko, Natasha F S da Cruz, Pavlina S Kemp, Carlos E Mendoza-Santiesteban, Audina M Berrocal","doi":"10.3928/23258160-20250228-02","DOIUrl":"10.3928/23258160-20250228-02","url":null,"abstract":"<p><p>Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder caused by haploin-sufficiency of the SRY-related HMB box (SOX5) gene. Most cases result from de novo variants; however, some cases follow autosomal dominant inheritance patterns. Classic features of LSS include global developmental delay, dysmorphic facial features, musculoskeletal abnormalities, and cardiac and genitourinary defects. Ophthalmic manifestations of LSS such as strabismus and optic nerve abnormalities have been described in approximately 55% of patients with LSS. We report a case of a 22-month-old boy with a history of bilateral iris and chorioretinal colobomas, bilateral lens subluxation, and strabismus and a past medical history of developmental delay, syndactyly, and hearing loss. Genetic testing identified a missense variant of uncertain significance in exon 14 of the SOX5 gene, which is linked to LSS. An inherited retinal disorders panel revealed the patient was a carrier of a pathogenic variant of the PHYH gene and a variant of uncertain significance of the COL9A2 gene. Results of the inherited retinal disorders panel did not identify variants implicated with iris and chorio-retinal colobomas; therefore, we postulate colobomas as an additional ophthalmic manifestation of LSS. This case serves to broaden characterization of the LSS phenotype, while presenting an additional variant potentially associated with LSS. There is currently no treatment for LSS; however, robust understanding of LSS's heterogenous phenotypic and genetic profile will lead to improved knowledge of the syndrome and diagnostic aptitude. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:368-372]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"368-372"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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