Seminars in Ophthalmology最新文献

{"title":"Lacrimal History - Part 14: Doyens of Dacryology Series - Georg Ernst Stahl (1659-1734) and His Lacrimal Propempticon of 1702.","authors":"Mohammad Javed Ali","doi":"10.1080/08820538.2025.2492431","DOIUrl":"10.1080/08820538.2025.2492431","url":null,"abstract":"","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"588-590"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144061593","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":"Lacrimal History - Part 13: Doyens of Dacryology Series - Johann Zacharias Platner (1694-1747) and His Dissertation (1724) 'De Fistula Lacrymali'.","authors":"Mohammad Javed Ali","doi":"10.1080/08820538.2025.2507479","DOIUrl":"10.1080/08820538.2025.2507479","url":null,"abstract":"","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"581-587"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094714","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":"Genetics of Retinoblastoma - An Update.","authors":"Adwaita Nag, Vikas Khetan","doi":"10.1080/08820538.2025.2492287","DOIUrl":"10.1080/08820538.2025.2492287","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this review article is to provide an exhaustive overview of the genetic and epigenetic changes involved in retinoblastoma (RB) tumorigenesis along with their real-world applications.</p><p><strong>Methods: </strong>We searched the Pubmed database using keywords: retinoblastoma, genetics, epigenetics, oncogenes, tumor suppressor genes and target genes.</p><p><strong>Results: </strong>RB oncogenesis is triggered by biallelic RB1 gene mutation but progression involves additional genetic and epigenetic events. Commonly seen genetic mutations include nonsense, small insertions/deletions and splice mutations. Additional changes include copy number alterations, single nucleotide polymorphisms and epigenetic alterations (dysregulation of microRNAs, differential methylations). These pathways have led to the identification of several potential target genes that can play a role in future in precision therapy.</p><p><strong>Conclusions: </strong>Genetic testing, counseling and risk stratification are integral to the management of RB. The latest genetic advancements herald the dawn of a new era with potential therapeutic approaches to RB and improved treatment outcomes.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"609-617"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981131","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":"Non-Conditional and Conditional Metastasis of Uveal Melanoma Per Millimeter-By-Millimeter in Thickness in 8034 Patients.","authors":"Hidayet Sener, Rolika Bansal, Thomas Catapano, Jerry A Shields, Carol L Shields","doi":"10.1080/08820538.2024.2432907","DOIUrl":"10.1080/08820538.2024.2432907","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the impact of uveal melanoma thickness on patient survival from the date of presentation and at specific time intervals following metastasis-free survival.</p><p><strong>Methods: </strong>In this retrospective cohort study, we evaluated data from 8034 consecutive uveal melanoma patients diagnosed at a tertiary care ocular oncology center between May 1972 and August 2007. The patients were categorized on the basis of tumor thickness (per each 1-mm increment) and evaluated for non-conditional survival (from date of presentation) and conditional survival (with 3-years, 5-years, and 10-years of metastasis-free survival) on the cumulative incidence of melanoma-related metastasis at 5-, 10-, 15-, 20-, 25- and 30-years.</p><p><strong>Results: </strong>For the entire cohort, Non-conditional incidence of metastasis at 5-, 10-, 15-, and 30-years was 8%, 11%, 12%, and 12%. Conditional cumulative incidence of metastasis with 5-year and 10-year metastasis-free survival revealed 30-year incidence of metastasis at 10% and 8%, respectively. The multivariate Cox regression analysis showed that each 1-mm increase in tumor thickness was associated with a significant (<i>p</i> < .05) increase in the risk of metastasis [HR: 1.08 (95% CI: 1.05-1.11) for non-conditional survival, HR: 1.07 (95% CI: 1.03-1.11) for 3-year metastasis-free survival, HR: 1.09 (95% CI: 1.03-1.15) for 5-year metastasis-free survival, and HR: 1.17 (95% CI: 1.05-1.30) for 10-year metastasis-free survival].</p><p><strong>Conclusion: </strong>In this study, we emphasize that increasing the thickness of uveal melanoma at presentation demonstrates a poorer ultimate prognosis. However, those with longer metastasis-free intervals were found to have a lower risk of ultimate metastatic disease, highlighting the importance of conditional and non-conditional survival.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"642-649"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710975","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":"Brain MRI Screening for Bilateral Retinoblastoma Patients.","authors":"Ronald Hershcovici, Shahar Frenkel, Gal Goldstein, Jacob Pe'er, Maya Eiger-Moscovich","doi":"10.1080/08820538.2025.2450681","DOIUrl":"10.1080/08820538.2025.2450681","url":null,"abstract":"<p><strong>Purpose: </strong>Trilateral retinoblastoma (TRB), intracranial neoplasm in heritable retinoblastoma patients, is a very rare fatal disease. Many ocular oncology centers conduct routine screening of retinoblastoma patients by brain imaging. Nevertheless, there is a debate regarding its ability to prolong TRB patients' survival and the number-needed-to-treat. We recommend baseline screening brain imaging in bilateral retinoblastoma patients, followed by imaging according to clinical need. We aim to see if this screening schedule has an impact on patients' survival.</p><p><strong>Methods: </strong>In a retrospective observational study, we reviewed the medical records of patients diagnosed with bilateral retinoblastoma at a tertiary medical center ocular oncology unit between 1.7.1986 and 1.2.2020, who had at least 36 months follow-up or retinoblastoma-related death. We collected data on patients' demographics, clinical features, systemic evaluation, treatment, follow-up, and outcome.</p><p><strong>Results: </strong>The analysis included 109 patients, 60 males and 49 females, diagnosed with bilateral retinoblastoma at a median age of 7.0 months (range 0.43-70.5 months). Germline mutation was found in 43 patients (39.4%) and somatic mutation in 15 patients (13.8%). Genetic status was not recorded in 51 patients (46.8%). Fifty-eight patients (53.0%) underwent baseline brain imaging (MRI in 42 patients and CT scan in 16 patients), in all of whom it was within normal limits. During a median follow-up of 138 months (range 19-787 months), 35 children had follow-up brain imaging (MRI in 25 patients and CT in 10 patients). One patient developed symptomatic TRB during follow-up, and is alive and disease-free (0.9%, Cl:0.02%-5.6%). Looking at survival, six patients (5.5%) developed metastatic disease, and eight patients (7.3%) expired, in all of whom death was retinoblastoma-related.</p><p><strong>Conclusions: </strong>Due to TRB rarity, routine screening by baseline brain MRI may be sufficient, avoiding anesthesia, expenses, distress, and unnecessary interventions, without a significant impact on patients' survival. Nevertheless, due to TRB fatality and treatment morbidity, periodic brain MRI until age 3 is a legitimate option.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"668-673"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142954483","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":"Lacrimal History - Part 15: Doyens of Dacryology Series - Jean-Louis Petit (1674-1750) and His Lacrimal Work in 'Oeuvres Completes'.","authors":"Hafsa Javed Ali, Mohammad Javed Ali","doi":"10.1080/08820538.2025.2500269","DOIUrl":"10.1080/08820538.2025.2500269","url":null,"abstract":"","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"591-595"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996578","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":"Choroidal Hemangioma Treatment with Propranolol - A Case Study in Sturge-Weber Syndrome and Systematic Literature Review.","authors":"Suma Thareja, Elizabeth Lucero, Aparna Ramasubramanian","doi":"10.1080/08820538.2025.2450689","DOIUrl":"10.1080/08820538.2025.2450689","url":null,"abstract":"<p><strong>Purpose: </strong>To examine propranolol efficacy in treating diffuse (DCH) and circumscribed choroidal hemangiomas (CCH) and controlling intraocular pressure (IOP) in patients with Sturge-Weber syndrome (SWS).</p><p><strong>Methods: </strong>A SWS patient case treated with propranolol for DCH is presented. Following PRISMA guidelines, we also performed a systematic review using PubMed/Web of Science, analyzing 14 studies detailing propranolol treatment outcomes for DCH, CCH, and IOP control in SWS. Demographic, clinical, treatment, and outcome data were extracted and statistically analyzed. Fisher's exact test was used to compare findings such as retinal detachment rates.</p><p><strong>Results: </strong>We reviewed patients treated with propranolol, including 8 DCH, 18 CCH, and 16 SWS cases of IOP control. Retinal detachment rates were significantly higher in DCH compared to CCH cases. Post-propranolol, 73% of DCH and CCH cases showed subretinal fluid improvement, and in SWS patients, 94% had IOP reduction.</p><p><strong>Conclusion: </strong>This study underscores the potential utility of propranolol beyond its traditional use in cutaneous hemangioma for treatment of CCH/DCH and IOP control.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"674-682"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142954487","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":"Improve Cure Rate of Children with Retinoblastoma: The AMCC Programme in Sub-Saharan Africa.","authors":"Karim Assani, Laurence Desjardins, Denis Malaise, Irene Kriegel, Fatoumata Sylla, Fousseyni Traore, Pierre Bey","doi":"10.1080/08820538.2025.2490662","DOIUrl":"10.1080/08820538.2025.2490662","url":null,"abstract":"<p><p>Alliance Mondiale Contre le Cancer (AMCC) is a non-profit French association devoted to improving cancer care in poor countries. It is domiciled at Institut Curie (Paris, France), which is the multidisciplinary referent retinoblastoma (RB) centre in France. In sub-Saharan Africa the number of children with RB is high (about 2 000 out of 8 500 worldwide) as 40% of the population is less than 15 years old and the population growth rate is still 2.7% versus 1.1% for the whole world. Few health facilities were able to treat retinoblastoma in 2010. Diagnosis was often not possible or too late and mortality was high (over 80%) compared to Europe or the USA (mortality less than 5% since decades). Since 2011 we have started with the team in Bamako (Mali) a programme to develop the care for RB in sub-Saharan Countries. Demonstration was obtained that the situation could improve with some specific support. Since 2019, a 10-year programme (2019-2029) was initiated in sub-Saharan countries including training of ophthalmologists and ocularists, development of multidisciplinary teams (MDTs) with paediatric-oncologists, the supply of complementary ophthalmological equipment to allow conservative management in bilateral cases, support for chemotherapy in some countries, data collections and publications and early diagnosis actions. To-day, halfway through the programme's deployment, it is supporting 30 teams in 23 countries: French speaking and some English and Portuguese speaking countries. Efforts will continue over the next 5 years to improve sustainably early diagnosis with the aim of curing at least 60% of all children with RB in 2030 with preservation of a useful vision for most of the bilateral cases.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"600-608"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993256","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":"Lacrimal History - Part 12: Doyens of Dacryology Series - John Thomas Woolhouse (1664-1734).","authors":"Mohammad Javed Ali, Christopher T Leffler","doi":"10.1080/08820538.2025.2488694","DOIUrl":"10.1080/08820538.2025.2488694","url":null,"abstract":"","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"575-580"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023974","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":"Telemedicine in Retinoblastoma: A Review.","authors":"Mattan Arazi, Ido Didi Fabian","doi":"10.1080/08820538.2025.2471989","DOIUrl":"10.1080/08820538.2025.2471989","url":null,"abstract":"<p><strong>Purpose: </strong>To perform a scoping review of the literature investigating the use of telemedicine in retinoblastoma (RB) care, as well as its integration into broader health-care systems worldwide.</p><p><strong>Methods: </strong>A comprehensive search of academic databases, Medline and Embase, as well as public, web-based sources, was performed. Article references were also screened for inclusion within the review. Only English-language sources that presented evidence of dedicated frameworks incorporating telemedicine-based RB care were included.</p><p><strong>Results: </strong>The review identified 57 peer-reviewed studies, of which 19 were found potentially eligible for inclusion. Following exclusion criteria and a web-based search, 11 sources referencing 10 telemedicine frameworks, comprising four peer-reviewed articles, and seven publicly available initiatives, were included. Major themes leveraging telemedicine in RB care included knowledge exchange and capacity building, the establishment of direct partnerships incorporating teleconsultation, and the development of care coordination networks. Many telehealth platforms were effectively integrated into health-care systems; however, challenges included the absence of RB specific initiatives, the need for publicly available, measurable peer-reviewed outcomes and the complexities of multidimensional RB care.</p><p><strong>Conclusion: </strong>Tele-efforts have the potential to enhance delivery of RB care to remote, resource-limited communities. Future research should explore improved integration of policy-driven telemedicine within health-care systems, assess the economic feasibility of providing such care, and facilitate empirical evaluations, ultimately leading to increased sustainability, funding and investment of these models.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"618-623"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711150","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}