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":"https://doi.org/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 chorioretinal 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:XX-XX.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"1-5"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","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}
{"title":"Spotlight on Expanded Field Imaging Findings in Proliferative Sickle Cell Retinopathy.","authors":"Francesco Romano, Xinyi Ding, John B Miller","doi":"10.3928/23258160-20240906-03","DOIUrl":"10.3928/23258160-20240906-03","url":null,"abstract":"","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"190"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142292843","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}
Karen M Wai, Jade Y Moon, Itika Garg, Ying Cui, Raviv Katz, Ying Zhu, Edward S Lu, Rebecca Zeng, David M Wu, Deeba Husain, Demetrios G Vavvas, John B Miller
{"title":"Comparison of Neovascularization Detection in Proliferative Diabetic Retinopathy Using Widefield Swept-source Optical Coherence Tomography Angiography and Fluorescein Angiography Among Ophthalmology Residents at a Single Institution.","authors":"Karen M Wai, Jade Y Moon, Itika Garg, Ying Cui, Raviv Katz, Ying Zhu, Edward S Lu, Rebecca Zeng, David M Wu, Deeba Husain, Demetrios G Vavvas, John B Miller","doi":"10.3928/23258160-20241114-01","DOIUrl":"10.3928/23258160-20241114-01","url":null,"abstract":"<p><strong>Background and objective: </strong>This study compares the ability of resident ophthalmologists to identify neovascularization (NV) in patients with proliferative diabetic retinopathy (PDR) using widefield swept-source optical coherence tomography angiography (SS-OCTA) and fluorescein angiography (FA).</p><p><strong>Patients and methods: </strong>Fluorescein angiography and SS-OCTA images were scrambled to create a grading set consisting of 1) early and late phase FA images, 2) B-scan videos, and 3) vitreoretinal interface (VRI) slab. Participants were asked to identify NV.</p><p><strong>Results: </strong>Twelve resident physicians participated in the study. Resident physicians correctly identified 75.6% of NV using FA, 65.3% of NV using SS-OCTA B-scans, and 90.7% of NV using the SSOCTA VRI slab. There was no statistically significant difference in participants' ability to detect NV across imaging modalities (<i>P</i> = 0.08).</p><p><strong>Conclusion: </strong>Detection rates of NV using SS-OCTA were comparable to that of using FA. Results suggest that SS-OCTA may be an appropriate imaging modality for detection of NV in PDR patients. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:160-165.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"160-165"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142730993","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}
Tiago N O Rassi, William W Binotti, Eduardo Mund Carreirao Danielli, Sacha Pereira Fernandes, Daniela Cristina Schroff Machado, Dillan Cunha Amaral, Eduardo A Novais, Ricardo Noguera Louzada, Fernando Marcondes Penha, Mauricio Maia, Jay S Duker
{"title":"Comparison of Multiple Techniques for Measuring Geographic Atrophy: A Systematic Review and Network Meta-Analysis.","authors":"Tiago N O Rassi, William W Binotti, Eduardo Mund Carreirao Danielli, Sacha Pereira Fernandes, Daniela Cristina Schroff Machado, Dillan Cunha Amaral, Eduardo A Novais, Ricardo Noguera Louzada, Fernando Marcondes Penha, Mauricio Maia, Jay S Duker","doi":"10.3928/23258160-20250214-03","DOIUrl":"https://doi.org/10.3928/23258160-20250214-03","url":null,"abstract":"<p><p>This study compared techniques for measuring geographic atrophy (GA) against the standard autofluorescence blue (AF-Blue). The design was a Bayesian network meta-analysis. PubMed, Scopus, and Cochrane were searched for studies comparing GA imaging techniques. AF-Blue, autofluorescence green (AF-Green), autofluorescence infrared (AF-IR), near-infrared reflectance (NIR), multicolor autofluorescence AF (MC-AF), optical coherence tomography fundus image (OFI), en face sub-retinal pigment epithelium (SubRPE) slab, OCT angiography (OCTA), color fundus photography (CFP), and fluorescein angiography (FA) were included. A ratio of means (ROM) meta-analysis using a threshold based on an established minimally important difference was performed. (Pros-pero ID: CRD42023476459.) Included were 2,001 eyes from 18 studies and no significant differences among measurement techniques was found. The ROM showed that CFP, OCTA, SubRPE slab, OFI, and IR reflectance agreed well with AF-Blue. However, AF-Green, FA, and MC underestimated GA, and AF-IR overestimated it. It appears that there is a fair agreement between AF-Blue and current techniques for measuring GA. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:XX-XX.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"1-7"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753865","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}
Ahmad Al-Moujahed, Alexander Ivanov, William Kearney, Nathan Hall, Connor Ross, Tobias Elze, Lucia Sobrin, Joan W Miller, Alice Lorch, John B Miller, Dan Gong
{"title":"Fellow Eye Risk of Rhegmatogenous Retinal Detachment in the United States: IRIS Registry (Intelligent Research in Sight) Analysis.","authors":"Ahmad Al-Moujahed, Alexander Ivanov, William Kearney, Nathan Hall, Connor Ross, Tobias Elze, Lucia Sobrin, Joan W Miller, Alice Lorch, John B Miller, Dan Gong","doi":"10.3928/23258160-20240927-02","DOIUrl":"10.3928/23258160-20240927-02","url":null,"abstract":"<p><strong>Background and objective: </strong>This study aimed to investigate the rate of rhegmatogenous retinal detachment (RRD) in the fellow eye of patients after developing an RRD in one eye.</p><p><strong>Patients and methods: </strong>This is a retrospective cohort study of patients with a new RRD diagnosis in the American Academy of Ophthalmology IRIS Registry (Intelligent Research in Sight) from 2016 to 2020. The association between risk factors of RRD and fellow-eye RRD was evaluated using Cox regression.</p><p><strong>Results: </strong>Among the 201,622 patients who developed a new RRD in at least one eye, 6,740 (3.34%) developed an RRD in the fellow eye at a mean time of 406.02 days (SD = 373.74) from the first eye diagnosis. Of those 6,740 eyes, 1,889 (28.03%) had lattice degeneration, 3,938 (58.43%) had PVD, 588 (8.72%) had cataract surgery, and 38 (0.56%) had complex cataract surgery. Adjusted regression modeling showed that male sex (HR 1.73, [95% confidence interval (CI) 1.64 to 1.83]; <i>P</i> < 0.001), younger age at first eye RRD diagnosis (HR 1.02, [95% CI 1.01 to 1.02]; <i>P</i> < 0.001), active smoking (HR 1.13, [95% CI 1.05 to 1.22]; <i>P</i> = 0.002), and cataract surgery (HR 1.33, [95% CI 1.23 to 1.45]; <i>P</i> < 0.001) were associated with increased risk of a fellow eye RRD. On the other hand, fellow eye PVD was associated with a lower risk of RRD (HR 0.80, [95% CI 0.76 to 0.84]; <i>P</i> < 0.001).</p><p><strong>Conclusion: </strong>Among patients with an RRD in one eye, male sex, younger age of first eye RRD diagnosis, active smoking, and cataract surgery were associated with a higher risk of developing a fellow eye RRD, whereas fellow eye PVD was associated with a lower risk of fellow eye RRD. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:140-144.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"140-144"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625342","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}
Kenneth C Fan, Calvin W Wong, Braden A Nichols, Roa Sadat, Patrick C Staropoli, Troy C Becker, William A Pearce, Effie Z Rahman, Robert I Blem, David M Brown, Charles C Wykoff, Hasenin Al-Khersan
{"title":"Genotypic and Phenotypic Characterization of <i>Hexokinase 1</i> p.Glu847Lys Variant Causing Autosomal Dominant Pericentral Retinitis Pigmentosa.","authors":"Kenneth C Fan, Calvin W Wong, Braden A Nichols, Roa Sadat, Patrick C Staropoli, Troy C Becker, William A Pearce, Effie Z Rahman, Robert I Blem, David M Brown, Charles C Wykoff, Hasenin Al-Khersan","doi":"10.3928/23258160-20250214-02","DOIUrl":"https://doi.org/10.3928/23258160-20250214-02","url":null,"abstract":"<p><strong>Background and objective: </strong>The aim of this study was to clinically and molecularly characterize the largest cohort of patients with HK1 associated retinal disease. <i>Hexokinase 1</i> (HK1) variants have been reported to cause retinitis pigmentosa (RP), but a clearly defined genotype-phenotype correlation has not been well established.</p><p><strong>Patients and methods: </strong>A retrospective, consecutive, single-center case series was performed on patients with molecularly confirmed HK1-associated disease. Patients between 2016 and 2024 were included.</p><p><strong>Results: </strong>Sixty eyes from 30 patients were assessed. Thirty patients of 22 unrelated families were included. The median age at presentation was 53.5 years old, and the median age of disease symptom onset was 36 years old. The p.Glu847Lys variant was exhibited by 97% of the patients. Median best-recorded visual acuity was 20/28. Pericentral RP was the predominant phenotype (90% of patients).</p><p><strong>Conclusion: </strong>HK1 p.Glu847Lys variant was found to be associated with a less severe phenotype of autosomal dominant retinitis pigmentosa (adRP) as compared to other forms of adRP based on clinical presentation and electrophysiology. Future studies are necessary to better understand the genotypephenotype relationship and explore therapeutic options. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:XX-XX.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"1-7"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753867","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}
Lin Ni, Carolina Carvalho Soares Valentim, Priya Shukla, Rishi P Singh, Katherine E Talcott
{"title":"Prediction of Postoperative Macular Hole Status by Automated Preoperative Retinal OCT Analysis: A Narrative Review.","authors":"Lin Ni, Carolina Carvalho Soares Valentim, Priya Shukla, Rishi P Singh, Katherine E Talcott","doi":"10.3928/23258160-20250217-03","DOIUrl":"https://doi.org/10.3928/23258160-20250217-03","url":null,"abstract":"<p><p>Optical coherence tomography (OCT) is a non-invasive imaging modality essential for macular hole (MH) management. Artificial intelligence (AI) algorithms could be applied to OCT to garner insights for MH prognosis and outcomes. The objective was to review literature assessing automated image analysis algorithms in predicting postoperative outcomes for MH patients based on OCT images. A narrative search of all available published studies in peer-reviewed journals was conducted up to June 2023 following PRISMA guidelines. Three hundred sixty-eight publications underwent screening, with 14 selected for full-text review and seven determined as relevant. In MH status prediction, AI models achieved an area under the curve (AUC) of 83.6% to 98.4%. For postoperative visual acuity prediction, algorithm performance ranged from AUCs of 57% to 85%. In conclusion, novel AI algorithms were found to be predictive for postoperative MH status and postoperative visual acuity. More research in larger populations should be conducted to gauge the value of these novel algorithms in a real-world setting. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:XX-XX.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"1-6"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753877","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}
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:XX-XX.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"1-7"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","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}
{"title":"Trends in Research Payments for Age-related Macular Degeneration From 2015 to 2021.","authors":"April M Lee, Timothy T Xu, Matthew R Starr","doi":"10.3928/23258160-20240903-01","DOIUrl":"10.3928/23258160-20240903-01","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate characteristics of industry and public research payments for age-related macular degeneration studies.</p><p><strong>Materials and methods: </strong>Studies involving \"age-related macular degeneration\" or \"AMD\" from 2015 to 2021 were extracted from the Open Payments Database and the National Eye Institute RePORTER tool and compared to each other.</p><p><strong>Results: </strong>From 2015 to 2021, 620 ophthalmologists received $178,394,734.09 in industry research payments with a 76.9% increase from 2015 to 2020 and a subsequent 40.7% decrease in 2021. There were 84 female industry funding recipients (13.7%) compared to 528 (86.3%) male recipients (<i>P</i> < 0.001). For public funding, 119 ophthalmologists received $157,319,575.00 with a 31.0% increase from 2015 to 2021. Among 119 principal investigators, 37 (31.1%) were women and 82 (68.9%) were men (<i>P</i> = 0.05).</p><p><strong>Conclusion: </strong>Industry-funded and publicly funded age-related macular degeneration-related research payments overall increased from 2015 to 2021. Funding distribution by sex trended towards male recipients. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2025;56:95-100.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"95-100"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142292845","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}