Bijal A Kikani, Jordan A Ueberroth, Cory A Christensen, Mark P Breazzano
{"title":"Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.","authors":"Bijal A Kikani, Jordan A Ueberroth, Cory A Christensen, Mark P Breazzano","doi":"10.3928/23258160-20250513-01","DOIUrl":"https://doi.org/10.3928/23258160-20250513-01","url":null,"abstract":"<p><p>CEP290 variants, commonly associated with Leber congenital amaurosis, cause severe visual impairment within the first year of life. Herein, we report a unique case of nonsyndromic retinitis pigmentosa with foveal sparing and preserved central vision in a patient harboring two pathogenic CEP290 variants. A 28-year-old woman presented with long-standing poor peripheral vision and nyctalopia since childhood, but with visual acuity of 20/25 bilaterally. Examination showed retinal arteriolar attenuation, diffuse foveal-sparing retinal atrophy, and peripheral bone spicule pigmentation. Genetic testing identified two pathogenic nonsense mutations in CEP290 (c.1666del and c.4057G>T) and heterozygous missense mutations in BBS5 (c.715A>G), PDE6A (c.367G>T), and RPGR (c.2594_2596del), which were variants of unknown significance. Although nonsense mutations in CEP290 are associated with severe and early-onset vision loss, our patient demonstrated a mild retinitis pigmentosa phenotype with stable disease over 6 months. This case expands the phenotypic spectrum of CEP290-associated diseases and suggests a potential role for genetic modifiers in disease severity. <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":"1-4"},"PeriodicalIF":0.9,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128372","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}
Shivesh Shah, William Foulsham, Jia Xu, Luis Martinez-Velazquez, Jennifer Hu, Selin Gumustop, Kayla Nodecker, John B Miller
{"title":"Epiretinal Amniotic Membrane Patch as a Temporary Scaffold for Refractory Macular Hole Closure: A Case Report.","authors":"Shivesh Shah, William Foulsham, Jia Xu, Luis Martinez-Velazquez, Jennifer Hu, Selin Gumustop, Kayla Nodecker, John B Miller","doi":"10.3928/23258160-20250417-04","DOIUrl":"https://doi.org/10.3928/23258160-20250417-04","url":null,"abstract":"<p><p>Macular holes are central retinal defects that can severely impair vision. While standard surgical management including pars plana vitrectomy (PPV) and internal limiting membrane (ILM) peeling is highly effective for most macular holes, lower success rates are observed with chronic or large holes. Several advanced surgical maneuvers have recently emerged, including inverted ILM flaps, autologous retinal transplant, subretinal blebs, and subretinal amniotic membrane (AM) grafts. While subretinal AM grafts demonstrate improved closure rates, amniotic tissue can block reformation of subfoveal outer retinal structures. The use of larger AM patches (> 6 mm diameter) to facilitate hole closure through the creation of a temporary pre-retinal scaffold is a novel surgical approach for refractory macular holes. We describe a large chronic stage-4 macular hole refractory to standard treatment, successfully treated with epiretinal AM transplantation and patch removal 2 months later. We highlight the feasibility of AM removal and importance of further refining this technique. <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":"1-4"},"PeriodicalIF":0.9,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128368","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}
Jennifer D Huang, Kapil Mishra, Karen Wai, Prithvi Mruthyunjaya, Ehsan Rahimy
{"title":"Morbidity and Mortality Associated With Systemic Lupus Erythematosus and Retinal Vasculitis: A Multicenter Cohort Study.","authors":"Jennifer D Huang, Kapil Mishra, Karen Wai, Prithvi Mruthyunjaya, Ehsan Rahimy","doi":"10.3928/23258160-20250417-01","DOIUrl":"https://doi.org/10.3928/23258160-20250417-01","url":null,"abstract":"<p><strong>Background and objective: </strong>To determine the long-term rates of death, myocardial infarction (MI), dialysis, and stroke in patients with systemic lupus erythematosus (SLE) and retinal vasculitis (RV).</p><p><strong>Patients and methods: </strong>A total of 435 patients with SLE/RV were identified using TriNetX, a federated electronic health records network from January 1, 2004 to January 1, 2024. Patients were matched for age, sex, race, and propensity score, excluding those with MI, dialysis, or cerebrovascular complication in the year prior to diagnosis.</p><p><strong>Results: </strong>The risk of death, MI, and dialysis was not statistically different between cohorts at 5 and 10 years. The risk of stroke was increased at 5 and 10 years in the SLE/RV cohort, but no statistically significant difference in risk was found at 1 year.</p><p><strong>Conclusion: </strong>Although patients with and without RV may have similar long-term rates of death, MI, and dialysis, patients with SLE/RV may have an elevated risk of stroke in the subsequent 5 and 10 years after diagnosis, highlighting the need for multidisciplinary care. <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":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128370","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}
Ferhina S Ali, David C Tabano, Durga S Borkar, Theodore Leng, Vincent Garmo, Ayesha Ahmed, Rachel Myers, Jacqueline K Shaia, Giulio Barteselli, Rishi P Singh
{"title":"Early Outcomes After Initiation of Faricimab for Neovascular Age-Related Macular Degeneration.","authors":"Ferhina S Ali, David C Tabano, Durga S Borkar, Theodore Leng, Vincent Garmo, Ayesha Ahmed, Rachel Myers, Jacqueline K Shaia, Giulio Barteselli, Rishi P Singh","doi":"10.3928/23258160-20250304-02","DOIUrl":"https://doi.org/10.3928/23258160-20250304-02","url":null,"abstract":"<p><strong>Background and objective: </strong>This study assessed treatment patterns and early outcomes among patients with neovascular age-related macular degeneration (nAMD) initiating faricimab in routine clinical practice in the United States.</p><p><strong>Patients and methods: </strong>FARETINA-AMD is a retrospective study among patients with nAMD initiating faricimab from February 2022 to June 2023 identified from the US IRIS<sup>®</sup> Registry.</p><p><strong>Results: </strong>Included were 21,508 patients previously treated with anti-vascular endothelial growth factor (anti-VEGF) (25,784 eyes) and 1,836 treatment-naïve patients (1,982 eyes) with nAMD. Among previously treated eyes, visual acuity remained stable with faricimab. In treatment-naïve eyes, mean ± SD visual acuity improved from 56.7 ± 24.1 letters at index to 61.4 ± 22.3 after faricimab injection 4 (<i>P</i> < 0.01). Mean ± SD central subfield thickness improved from 315.2 ± 80.0 (index) to 264.9 ± 60.1 μm (injection 4) in treatment-naïve eyes and 296.2 ± 95.5 to 273.0 ± 81.4 μm in previously treated eyes (both <i>P</i> < 0.01).</p><p><strong>Conclusions: </strong>Among patients with nAMD receiving faricimab, visual acuity improved in treatment-naïve eyes, and both previously treated and treatment-naïve eyes experienced anatomical improvement. <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":"1-10"},"PeriodicalIF":0.9,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079389","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}
Durga S Borkar, David C Tabano, Ferhina S Ali, Theodore Leng, Vincent Garmo, Ayesha Ahmed, Rachel Myers, Jacqueline K Shaia, Giulio Barteselli, Rishi P Singh
{"title":"Early Outcomes After Initiation of Faricimab in Patients With Diabetic Macular Edema.","authors":"Durga S Borkar, David C Tabano, Ferhina S Ali, Theodore Leng, Vincent Garmo, Ayesha Ahmed, Rachel Myers, Jacqueline K Shaia, Giulio Barteselli, Rishi P Singh","doi":"10.3928/23258160-20250304-01","DOIUrl":"https://doi.org/10.3928/23258160-20250304-01","url":null,"abstract":"<p><strong>Background and objective: </strong>This study evaluated treatment patterns and outcomes among patients with diabetic macular edema (DME) treated with the bispecific antibody faricimab in routine clinical practice in the United States.</p><p><strong>Patients and methods: </strong>FARETINA-DME was a retrospective study among patients with DME initiating faricimab from February 2022 to June 2023 identified from the United States IRIS<sup>®</sup> Registry.</p><p><strong>Results: </strong>Four thousand five hundred fourteen (4,514) patients (6,204 eyes) previously treated with anti-vascular endothelial growth factor (anti-VEGF) therapy and 691 treatment-naïve patients (851 eyes) were included. In previously treated eyes, mean ± SD visual acuity was 64.0 ± 18.3 letters at index and 65.3 ± 19.0 at faricimab injection 4. In treatment-naïve eyes, visual acuity improved from 60.3 ± 19.8 to 63.9 ± 18.5 letters (<i>P</i> < 0.01). Mean ± SD central subfield thickness improved from 364.3 ± 132.2 to 330.1 ± 121.2 μm in previously treated eyes and 359.6 ± 115.0 to 307.4 ± 114.6 μm in treatment-naïve eyes (both <i>P</i> < 0.01).</p><p><strong>Conclusions: </strong>In patients with DME receiving faricimab, visual acuity was maintained in previously treated and improved in treatment-naïve eyes. Both groups had anatomical improvement. <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":"1-9"},"PeriodicalIF":0.9,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079390","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}
Roger A Goldberg, David S Boyer, Frank G Holz, Mathew W MacCumber, Sunir J Garg, David M Brown, Eleonora M Lad, Nathan Steinle, Rishi P Singh, 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, Rishi P Singh, 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":"https://doi.org/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:XX-XX.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"1-9"},"PeriodicalIF":0.9,"publicationDate":"2025-05-15","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}
Nikhil Bommakanti, Jose S Pulido, Howard F Fine, Yoshihiro Yonekawa
{"title":"Time for \"Cyanescence\" to Become Cyanotic. It's ICG \"Fluorescence\".","authors":"Nikhil Bommakanti, Jose S Pulido, Howard F Fine, Yoshihiro Yonekawa","doi":"10.3928/23258160-20250217-02","DOIUrl":"https://doi.org/10.3928/23258160-20250217-02","url":null,"abstract":"","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"2-4"},"PeriodicalIF":0.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993084","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, Ioanna Ploumi, Srujay Pandiri, Xinyi Ding, Sandra Hoyek, Chong Chen, Kayla N Nodecker, Audrey Kim, Nimesh A Patel, John B Miller
{"title":"Ultra Widefield Swept Source OCTA Findings in Coats Plus Syndrome.","authors":"Celine Chaaya, Ioanna Ploumi, Srujay Pandiri, Xinyi Ding, Sandra Hoyek, Chong Chen, Kayla N Nodecker, Audrey Kim, Nimesh A Patel, John B Miller","doi":"10.3928/23258160-20250417-02","DOIUrl":"https://doi.org/10.3928/23258160-20250417-02","url":null,"abstract":"<p><p>Coats plus syndrome (CPS), also referred to as cerebroretinal microangiopathy with calcifications and cysts (CMCC), is a rare autosomal recessive disease that primarily targets the microvasculature of the retina, brain, bones, and gastrointestinal system. This study reports the case of a 24-year-old female patient who was initially diagnosed with familial exudative vitreoretinopathy (FEVR) and was lost to follow-up. The patient underwent multimodal retinal imaging, including ultra-widefield swept-source optical coherence tomography angiography (UWF SS-OCTA) (DREAM OCT, Intalight). Examination revealed areas of peripheral avascular retina with limited exudation and telangiectasis. Ultra-widefield SS-OCTA provided a detailed view of the peripheral retinal changes, including temporal retinal ischemia, vessel tortuosity, dilated intercapillary spaces, and vessel shunting. Genetic testing was positive for CTC1 mutation and the diagnosis of CPS was made. Mild phenotypes of Coats plus can mimic FEVR and there is a need to maintain a level of suspicion in patients with any systemic symptoms. Ultra-widefield OCTA can be used to assess peripheral avascularity and telangiectasias to aid in the diagnosis and management. <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":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013014","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}