International Ophthalmology Clinics最新文献

{"title":"Intravitreal Chemotherapy in Retinoblastoma: Current Trends and Future Directions.","authors":"Ayushi Agarwal, Vijitha S Vempuluru, Swathi Kaliki","doi":"10.1097/IIO.0000000000000581","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000581","url":null,"abstract":"<p><p>Management of retinoblastoma has evolved drastically with the advent of targeted chemotherapy, such as intra-arterial chemotherapy, intravitreal chemotherapy, and intracameral chemotherapy. Intravitreal chemotherapy has emerged as the frontline therapy for the management of vitreous seeding. It has also shown beneficial effects on subretinal seeding, the 2 major therapeutic challenges for globe salvage in retinoblastoma. The enhanced efficacy and safety of current intravitreal agents have led to improved globe and vision salvage, resulting in better survival outcomes. The authors discuss current trends, indications, and practice patterns of intravitreal chemotherapy for retinoblastoma, highlighting potential groundbreaking advancements, including the role of nanoparticle technology.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"68-73"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Applications of New Generation Sequencing (NGS) in Ocular Oncology.","authors":"Mizuki Tagami, Shigeru Honda","doi":"10.1097/IIO.0000000000000584","DOIUrl":"10.1097/IIO.0000000000000584","url":null,"abstract":"<p><p>Next-generation sequencing (NGS) has revolutionized cancer genomics, offering unparalleled insights into the molecular landscape of various malignancies, including ocular cancers. This review explores the role of NGS in ocular oncology, highlighting its impact on understanding genetic alterations, identifying biomarkers, and advancing personalized treatment approaches. Key applications in uveal melanoma, retinoblastoma, and other ocular tumors, including ocular adnexa lymphoma and IgG4-related ophthalmic disease are discussed, along with the challenges and future directions in the field. As sequencing technologies continue to evolve, integrating NGS into clinical practice promises to enhance early diagnosis, risk assessment, and therapeutic strategies in ocular oncology.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12459143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect.","authors":"Paulina Bartoszek, François Boemer, Kristine Hovhannesyan, Valérie Jacquemin, Flavia Piazzon, Davood Mashhadizadeh, Vincent Bours, Laura Helou, Vincent Rigo, Nadège Hennuy, Tamara Dangouloff, Laurent Servais","doi":"10.1097/IIO.0000000000000593","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000593","url":null,"abstract":"<p><p>Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associated with 165 genetic conditions, and includes RB1, linked to retinoblastoma, the only oncological disease tested for. Germline RB1 mutations concern around 50% of all retinoblastoma cases and 100% of the most severe, bilateral cases. Ninety percent of them occur de novo, which delays the diagnosis by about a year with subsequent loss of vision and sometimes the eye itself. Detecting children with germline RB1 mutation at birth would greatly improve functional and anatomic outcomes, limiting invasive treatments and general anesthesias through early childhood. We discuss herein the novel approach of population screening, the rationale for newborn testing for RB1 mutations, the incidence of expected cases, the reliability of the test and its costs. The next step is to move to a nation-scale population; this initiative marks a landmark in retinoblastoma patients' care.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"47-50"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Angiogenesis Signaling in Retinoblastoma: Prognostic and Therapeutic Applications.","authors":"Eleen Yang, Noa Odell, Helen Dimaras, Timothy W Corson","doi":"10.1097/IIO.0000000000000587","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000587","url":null,"abstract":"<p><p>Angiogenesis is a critical player in tumor metastasis that is involved in the pathophysiology of the pediatric ocular cancer retinoblastoma (RB). This review summarizes evidence linking angiogenesis to RB prognostication, response to treatment, and therapy. Vascular endothelial growth factor (VEGF), a major proangiogenic growth factor, has potential as a biomarker of therapy response in RB treatment. High VEGF correlates with poor chemotherapy response, subsequent local invasion, and lower patient survival. VEGF levels are also strongly correlated with choroidal invasion, poor differentiation, and an overall negative disease prognosis for RB patients. In contrast, decreasing VEGF levels can predict vitreous seed regression after intravitreal chemotherapy. Further investigation is needed to determine the accuracy and clinical value of using aqueous humor liquid biopsies to assess VEGF levels to predict prognosis or therapy response. Antiangiogenic agents, including approved drugs and experimental compounds, have shown potential in RB models and may become potential therapeutics, adjuvants to current chemotherapies, or treatments for chemotherapy complications, although there is limited evidence that antiangiogenic monotherapy may be sufficient for RB. Overall, future research aimed at integrating angiogenesis markers and therapies with existing RB strategies holds promise for improving patient outcomes and personalizing treatment approaches.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"35-41"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intra-arterial Chemotherapy for Retinoblastoma: Real-world Experience.","authors":"Abhishek Das, Kothapally Saiteja, Parag K Shah, Prema Subramaniam, Narendran Venkatapathy","doi":"10.1097/IIO.0000000000000591","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000591","url":null,"abstract":"<p><p>Intra-arterial chemotherapy (IAC) has emerged as a standard of care for retinoblastoma (RB). Our study evaluates the outcomes, adverse effects and challenges of IAC in the management of RB in an Indian cohort. This retrospective study analyzed 20 patients (n=21 eyes) with RB treated with IAC at a single tertiary center. Drugs used were melphalan (5/7.5 mg) and topotecan (1/2 mg) (n=14) or melphalan (5 mg) alone (n=3) or triple therapy, which included carboplatin (30 mg) along with these drugs (n=4). Patient demographics, clinical staging, globe salvage rates, tumor regression, adverse effects, and challenges were assessed. Eyes were classified according to ICRB as group B (n=5), C (n=1), D (n=7), and E (n=8). Of the 21 eyes treated, successful globe salvage was achieved in 81% of the cases, with a median follow-up of 20 months. Complete regression of the main tumor was seen in 12 eyes (57%) and partial regression in 9 eyes (43%). Among adverse effects, vitreous hemorrhage (n=3), rhegmatogenous retinal detachment (n=3), choroidal ischemia (n=1), isolated subretinal hemorrhage (n=2), retinal pigment epithelium degeneration (n=3), ophthalmic artery stenosis (n=2), occlusive vasculitis (n=1), forehead pigmentation in 1 patient, 1 had third nerve palsy with complete ptosis and 1 had 30-degree exotropia. IAC is an effective treatment modality for RB, achieving high globe salvage rates, but parallelly, the adverse effects associated with IAC should be kept in mind. This study provides critical insights into the real-world application of IAC in resource-limited settings, highlighting both its promise and limitations.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"60-67"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Conjunctival Melanoma: Current Management.","authors":"Hatem Krema","doi":"10.1097/IIO.0000000000000585","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000585","url":null,"abstract":"<p><p>Conjunctival melanoma is a rare, potentially lethal cancer that mainly affects fair-skinned individuals. The tumor mostly arises from primary acquired melanosis (PAM) with atypia. The presentation of conjunctival melanoma varies and should be clinically differentiated from an array of ocular surface pigmented and nonpigmented lesions. Mutations in the oncogenes BRAF (V600E) and NRAS, and the tumor suppressor gene NF1, are associated with worse survival. UV signature mutations are frequently observed in the bulbar conjunctival melanoma. The TNM staging classifies conjunctival melanoma according to its location and extent. The treatment of conjunctival melanoma depends on tumor staging. Surgical excision of a localized bulbar or forniceal tumor with the no-tumor-touch technique and margin cryotherapy can be sufficient for local control. Adjunctive radiotherapy options include Proton beam radiotherapy, Plaque radiotherapy for ocular surface melanoma, Orthovoltage (Deep x-ray) radiotherapy for palpebral melanoma, and Megavoltage LINAC-based photon radiotherapy can be used for locally invasive and localized orbital extension of conjunctival melanoma. Topical mitomycin-C eye drops are used for diffuse flat melanoma or PAM with severe atypia. Systemic targeted therapy such as BRAF inhibitors for melanoma with BRAF mutation, and systemic immunotherapy drugs have been recently used for more extensive or metastatic disease. Risk factors for metastasis include: greater tumor thickness, non-bulbar location, low tumor pigmentation, histologic ulceration, >1 mitotic figure per mm2, and adjacent structures invasion. Localized tumors should be excised en block, and incisional biopsy should be avoided, which could lead to local widespread tumor dissemination and subsequent recurrence and metastasis.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"9-13"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinoblastoma: Advances in Genetic Testing.","authors":"Mark Lindquist, Debarshi Mustafi, Erin Crotty, Natalie Waligorski, Andrew W Stacey","doi":"10.1097/IIO.0000000000000589","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000589","url":null,"abstract":"<p><p>Retinoblastoma is a genetic condition initiated by pathogenic variants causing biallelic loss of function of the RB1 gene. Genetic testing is a crucial component in the evaluation, treatment, and surveillance of retinoblastoma patients. A pathogenic germline mutation determines retinoblastoma heritability, a distinction that possesses significant implications for personal prognosis, risk assessments for family members, family planning, and clinical decision making. Any patient with a diagnosis of retinoblastoma with an uncertain RB1 status and first-degree relatives of probands with heritable disease should undergo genetic testing. The preferred method of testing for all probands is to first test tumor tissue if available. DNA from leukocytes from peripheral blood can then be analyzed for the specific variants identified in the tumor tissue to assess germline status. If no tumor tissue is available, peripheral blood is tested. If a germline variant is identified, at-risk family members can be tested for the specific variant with targeted sequencing. Newer testing technologies such as long-read sequencing hold significant promise due to its scalability globally and multi-omic capabilities, which provide new prognostic information. Improved access to testing in limited resource settings could improve patient outcomes.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"42-46"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ocular and Periocular Squamous Cell Carcinoma: Role of Immune Check Point Inhibitors.","authors":"Bita Esmaeli","doi":"10.1097/IIO.0000000000000586","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000586","url":null,"abstract":"<p><p>The addition of immune checkpoint inhibitors (ICIs), especially PD-1 inhibitors, as a treatment option for patients with locally advanced or metastatic periocular squamous cell carcinoma (SCC) with orbital invasion or perineural spread (PNS) is a major advance. In the case of patients with locally advanced periocular SCC with orbital invasion, ICIs can result in significant tumor shrinkage and potential avoidance of orbital exenteration or other radical surgery. In the case of SCC with PNS, using PD-1 inhibitors, as an alternative to high-dose orbital radiation therapy, is effective and can prevent vision loss and ocular toxicity from radiation. For conjunctival SCC, PD-1 inhibitors can result in tumor shrinkage in patients with high tumor mutation burden.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"5-8"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Pediatric Eye Cancer Research: Insights From the Kids Eye Biobank.","authors":"Frances Argento, Panagiotis N Toumasis, Kaitlin Jones, Joanna Ciezadlo, Kaitlyn Flegg, Timothy W Corson, Ashwin C Mallipatna, Helen Dimaras","doi":"10.1097/IIO.0000000000000594","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000594","url":null,"abstract":"<p><p>Rare pediatric eye cancers (R-PECs) encompass over 30 benign and malignant neoplasms affecting various ocular structures. Despite their potential for severe morbidity and mortality, many R-PECs remain poorly understood due to their rarity, clinical heterogeneity, and the limited availability of high-quality biospecimens. The historic example of retinoblastoma illustrates how access to well-annotated tumor tissue enabled groundbreaking discoveries, including the identification of the RB1 gene and MYCN-amplified retinoblastoma. However, a lack of centralized, high-quality resources continues to hinder progress across the spectrum of R-PECs. Biobanking offers a solution by systematically collecting, storing, and sharing biospecimens and data under standardized protocols and formal governance. Pediatric biobanks face unique ethical and operational challenges, including obtaining dynamic consent and safeguarding participant autonomy. Yet, they also offer unique opportunities, including the creation of renewable models (eg,. organoids, cell lines) and the integration of imaging and multiomics data. This review highlights these opportunities and challenges, drawing on insights from the Kids Eye Biobank. Through structured resource collection, governance, and patient engagement, the Kids Eye Biobank demonstrates how biobanking can transform R-PEC research and accelerate discovery in this underserved area.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"29-34"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent Solitary Fibrous Tumors in the Orbit.","authors":"Bijnya Birajita Panda, Utkarsh Agarwal, Abid Majid Rather","doi":"10.1097/IIO.0000000000000582","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000582","url":null,"abstract":"<p><strong>Background: </strong>Solitary fibrous tumors (SFTs) of the orbit are rare mesenchymal neoplasms that typically exhibit indolent behavior. However, a subset may recur, sometimes many years after initial treatment, posing significant diagnostic and therapeutic challenges. Because of the rarity of recurrent orbital SFTs, there is limited literature addressing their clinicopathologic features, diagnostic evolution, and optimal management strategies.</p><p><strong>Objective: </strong>This study aims to analyse the clinical, radiologic, histopathologic, and immunohistochemical characteristics of 4 patients with recurrent orbital SFTs and to compare these findings with existing literature to elucidate prognostic factors and guide long-term management.</p><p><strong>Methods: </strong>We retrospectively reviewed the clinical records of 4 patients with histologically confirmed recurrent orbital SFTs treated at our institution. Data regarding initial presentation, radiologic characteristics, histopathology, time to recurrence, mitotic activity, Ki-67 index, necrosis, and immunohistochemical profile were collected. All cases were evaluated for nuclear STAT6 expression, CD34 positivity, and proliferation index. A comparative review of previously published cases of recurrent orbital SFTs was conducted through the PubMed database.</p><p><strong>Results: </strong>The recurrence interval ranged from 6 to 15 years. Initial diagnoses in 3 of the 4 cases were incorrect (hemangiopericytoma, Schwannoma, and cellular SFT), and were revised upon recurrence using updated immunohistochemistry. All cases demonstrated strong nuclear STAT6 and CD34 positivity on recurrence. Mitotic indices ranged from 0 to 10 per 10 high-power fields, and Ki-67 indices ranged from 2% to 40%. Necrosis was observed in one case only. Two patients required eyelid-sparing exenteration, whereas the others were managed with wide excision and orbital floor reconstruction. All patients remained recurrence-free at 2 to 3 years post-re-excision.</p><p><strong>Conclusions: </strong>Recurrent orbital SFTs can present after a prolonged latency and may exhibit histologic evolution or diagnostic misclassification at initial presentation. Accurate diagnosis requires integration of histopathology with STAT6-based immunohistochemistry. Ki-67 and mitotic indices alone may not predict recurrence risk. Complete surgical excision remains the cornerstone of effective management. Our findings emphasize the importance of long-term surveillance and re-evaluation in cases with uncertain or evolving histopathologic features.</p>","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"65 4","pages":"14-20"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}