Seminars in OphthalmologyPub Date : 2026-04-01Epub Date: 2025-04-03DOI: 10.1080/08820538.2025.2486332
Nurşen Öncel Acır, Servet Çetinkaya
{"title":"Evaluation of Asymptomatic Fellow Eyes of Patients with Unilateral Epiphora by Lacrimal Irrigation Test and Dacryoscintigraphy.","authors":"Nurşen Öncel Acır, Servet Çetinkaya","doi":"10.1080/08820538.2025.2486332","DOIUrl":"10.1080/08820538.2025.2486332","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the findings of dacryoscintigraphy (DSG) and lacrimal irrigation test (LIT) in asymptomatic fellow eyes of patients with unilateral epiphora, as well as the relationship between pathology of the lacrimal drainage system in symptomatic and asymptomatic eyes.</p><p><strong>Methods: </strong>This study included 396 patients who were followed up for symptomatic unilateral epiphora due to nasolacrimal stenosis or obstruction between January 2022 and June 2024. Initially, LIT was performed in both eyes of all patients (both symptomatic and asymptomatic eyes) using a 2 ml lacrimal cannula. In all cases, DSG was performed as part of the routine examination.</p><p><strong>Results: </strong>Among symptomatic eyes with unilateral epiphora, 72.2% (<i>n</i> = 286) had nasolacrimal duct obstruction, while 27.8% (<i>n</i> = 110) had nasolacrimal duct stenosis. When the asymptomatic fellow eyes of 396 eyes with unilateral epiphora were examined, DSG was normal in 247 eyes (62.4%) and abnormal in 149 eyes (37.6%). DSG abnormalities were post-sac delay in 137 eyes (34.6%) and pre-sac delay in 12 eyes (3.0%). When asymptomatic fellow eyes were analysed with LIT, 326 eyes (82.3%) had normal LIT, while only 70 eyes (17.7%) had an obstruction in LIT. Among the asymptomatic eyes, 239 (60.4%) had neither delay in DSG nor obstruction in LIT, while 87 (22.0%) had delay in DSG without obstruction in LIT. Only 8 (3.2%) of 247 eyes with no delay in the DSG had a blockage in the LIT. The concordance rate between LIT and DSG was 76.0% (301 eyes).</p><p><strong>Conclusion: </strong>The combined use of DSG and LIT in the evaluation of asymptomatic eyes of cases with unilateral epiphora is crucial to improve diagnostic accuracy and develop a more targeted treatment approach.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"450-455"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143773311","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}
Seminars in OphthalmologyPub Date : 2026-04-01Epub Date: 2025-08-13DOI: 10.1080/08820538.2025.2546535
Bruno Ribeiro, Andresa Fernandes, Francisco Miguel Brardo, Maria Vaz Pato, Nuno Pinto
{"title":"Electrophysiological Insights into Neurovisual Dysfunctions in Myopia: A Systematic Review.","authors":"Bruno Ribeiro, Andresa Fernandes, Francisco Miguel Brardo, Maria Vaz Pato, Nuno Pinto","doi":"10.1080/08820538.2025.2546535","DOIUrl":"10.1080/08820538.2025.2546535","url":null,"abstract":"<p><strong>Introduction: </strong>Myopia is characterized by the unusual convergence of light rays entering the eye, causing them to focus in front of the retina. Electrophysiological tests, largely non-invasive, offer valuable insights into the functionality of retinal and/or visual pathway cells. This systematic review aims to assess whether electrophysiological tests could support the hypothesis that myopia is associated with a significant impairment in neurovisual function.</p><p><strong>Methods: </strong>We included observational or interventional studies involving myopic subjects alongside an age-matched control group. Searches were performed in PubMed, Scopus, and Web of Science, utilising keywords, MeSH terms and expressions. The primary outcomes analysed were the amplitude and latency of the electrophysiological tests considered. A total of 11 studies were included, comprising 340 myopic subjects. The tests evaluated were multifocal electroretinography (mfERG), pattern electroretinography (PERG), flash electroretinography (flash ERG), and visual evoked potentials (VEP).</p><p><strong>Results: </strong>A total of 1271 articles were identified. Of these, 11 met the eligibility criteria and were included in this review. Among the 11 studies, 7 using mfERG, PERG, and flash ERG reported an amplitude reduction in myopic eyes compared to controls. In terms of latency, four studies employing mfERG and PERG reported a delay in myopic eyes. The single included VEP study found both reduced amplitude and delayed latency in myopic eyes.</p><p><strong>Conclusions: </strong>The evidence gathered indicates that myopia is associated with functional neurovisual impairment, detectable through ERG and VEP. These findings reinforce the value of such tests as complementary tools for assessing retinal and visual pathway function in myopic individuals.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"416-425"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144848983","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}
Seminars in OphthalmologyPub Date : 2026-04-01Epub Date: 2025-08-19DOI: 10.1080/08820538.2025.2547077
Sowmya V Kothandan, Stephanie L Watson, Sayan Basu, Swati Singh
{"title":"Large Language Models Use in Dry Eye Disease: Perplexity AI versus ChatGPT4.","authors":"Sowmya V Kothandan, Stephanie L Watson, Sayan Basu, Swati Singh","doi":"10.1080/08820538.2025.2547077","DOIUrl":"10.1080/08820538.2025.2547077","url":null,"abstract":"<p><strong>Purpose: </strong>To compare the utility of two large language models (LLM) in dry eye disease (DED) clinics and research.</p><p><strong>Methods: </strong>Trained ocular surface experts generated 12 prompts for queries commonly asked by DED patients (<i>n</i> = 10 questions) and research ideas for DED (<i>n</i> = 2). Responses of two LLM models, ChatGPT4 and Perplexity AI, were graded by them using a standardized grading system (1 = needs improvement, 2 = fair, 3 = good, and 4 = excellent) evaluating the response accuracy, compassion, comprehensiveness, professionalism, humanness, and overall quality of each response. The mean scores of the grades from each expert for each response were compared.</p><p><strong>Results: </strong>The 10 clinical DED prompts received similar overall mean quality grades for the responses with ChatGPT (mean grade score = 2.6) and Perplexity AI (2.7). The mean grade scores for the response characteristics (accuracy, compassion, professionalism, humanness, and succinctness) varied between the experts for each question (range 2.2 to 3.1 for ChatGPT and 2.3 to 3.0 for Perplexity AI). ChatGPT4 generated DED-related research ideas better than Perplexity AI (mean 3.4 vs. 2.6). The source citations for responses by Perplexity AI were from web pages and were not evidence-based. There was slight or poor agreement between the reviewers' ratings for response characteristics generated by both LLMs.</p><p><strong>Conclusion: </strong>Perplexity AI and ChatGPT performed similarly for patient-related queries on DED and could have a role in patient education. These LLMs could have a role in DED clinics for patient counseling but require supervision. The LLMs are not ready to generate dry-eye research ideas or perform literature searches for DED.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"479-484"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144883586","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}
Seminars in OphthalmologyPub Date : 2026-04-01Epub Date: 2025-05-21DOI: 10.1080/08820538.2025.2503911
H Eatamadi, O Almazrouie, N Al Qatan, H Ibrahim, S Eatamadi
{"title":"Teprotumumab Use in Thyroid Eye Disease: Clinical Outcomes in the United Arab Emirates- a First Regional Case Series.","authors":"H Eatamadi, O Almazrouie, N Al Qatan, H Ibrahim, S Eatamadi","doi":"10.1080/08820538.2025.2503911","DOIUrl":"10.1080/08820538.2025.2503911","url":null,"abstract":"<p><strong>Background: </strong>Thyroid eye disease (TED), an autoimmune disorder frequently associated with Graves' disease, manifests as orbital inflammation, proptosis, diplopia, and vision impairment, significantly diminishing quality of life. Traditional treatments, such as corticosteroids and rituximab, exhibit variable efficacy, while targeted therapies like teprotumumab, an insulin-like growth factor-1 receptor (IGF-1 R) inhibitor, have shown promise, particularly in the United States. However, data from the Middle East, including the United Arab Emirates (UAE), remain scarce, highlighting the need for regional studies.</p><p><strong>Objective: </strong>To evaluate the clinical efficacy and safety of teprotumumab in TED patients in the UAE, presenting the first case series from the Gulf region.</p><p><strong>Methods: </strong>This retrospective case series analysed 14 patients (25 eyes) with moderate-to-severe TED who completed eight teprotumumab cycles. Outcomes-proptosis reduction (primary), Clinical Activity Score (CAS), double vision, quality of life (TED-QOL), stability, and adverse effects-were assessed at 24 weeks and 6 months post-treatment using standardized measures.</p><p><strong>Results: </strong>Teprotumumab reduced proptosis by 2.64 mm at 24 weeks (<i>p</i> < .0001) and 2.32 mm at 6 months (<i>p</i> < .0001), with 68% of eyes achieving ≥ 2 mm reduction. CAS dropped from 5.21 to 0.35 (<i>p</i> < .0001), double vision improved in 85.7% of cases, and QoL enhanced across all domains (<i>p</i> < .001). Stability persisted at 6 months, with tolerable adverse effects.</p><p><strong>Conclusion: </strong>Teprotumumab is effective and safe for TED in the Gulf region, offering sustained benefits. Larger, longer-term studies are needed to confirm efficacy, recurrence, and safety.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"456-463"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111828","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}
Seminars in OphthalmologyPub Date : 2026-04-01Epub Date: 2025-09-12DOI: 10.1080/08820538.2025.2557985
Maja Ćwiek, Jan Bombuy Gimenez, Justyna Izdebska
{"title":"Etiopathogenesis of Keratoconus: A Contemporary Overview.","authors":"Maja Ćwiek, Jan Bombuy Gimenez, Justyna Izdebska","doi":"10.1080/08820538.2025.2557985","DOIUrl":"10.1080/08820538.2025.2557985","url":null,"abstract":"<p><strong>Introduction: </strong>Keratoconus (KC) is a progressive corneal disorder characterized by thinning and conical protrusion, leading to visual impairment. Whereas traditionally viewed as non-inflammatory, recent evidence highlights the role of chronic inflammation, oxidative stress, and genetic susceptibility in its pathogenesis.</p><p><strong>Methods: </strong>A literature review was conducted using PubMed, Embase, and Scopus databases focusing on keratoconus etiology and risk factors.</p><p><strong>Results: </strong>The most significant factors include eye rubbing, male sex, time spent using computers after work or school, and exposure to dust or particulates in the workplace. Additionally contributors include environmental factors (UV exposure, air pollution) and systemic conditions (connective tissue disorders, autoimmune diseases). Developing research also ensnares lifestyle factors such as poor nutrition, sleep disruption, and psychological stress in disease progression. Advances in genetic and epigenetic studies uncover dysregulation in corneal structure and repair mechanisms, while microbiome imbalances may further exacerbate inflammation.</p><p><strong>Discussion: </strong>This review synthesizes current knowledge on KC's multifactorial etiology, emphasizing the shift toward holistic management strategies that address both ocular and systemic factors. Environmental exposures, daily habits, and systemic health converge to influence keratoconus onset and progression for understanding this enigmatic disease. Future directions include personalized therapies focusing on fundamental molecular pathways and public health measures to moderate environmental risks.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"426-438"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145041397","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":"Uses of Autologous Serum in Ocular Surface Diseases: A 10-Year Experience and Review of the Literature.","authors":"Alfredo Domínguez-López, Beatriz Buentello-Volante, Norma Magaña-Guerrero, Fátima Sofía Magaña-Guerrero, Óscar Vivanco-Rojas, Enrique O Graue Hernández, Yonathan Garfias","doi":"10.1080/08820538.2025.2528213","DOIUrl":"10.1080/08820538.2025.2528213","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to identify the diagnoses that led to the prescription of autologous serum (AS) in a tertiary eye care center over a 10-year period and to contextualize these findings through a comprehensive review of the literature.</p><p><strong>Methods: </strong>A retrospective case series was conducted including records of patients who were prescribed AS for the first time between January 2015 and December 2024. In parallel, we analyzed more than 30 clinical studies, including randomized controlled trials and observational reports, investigating the efficacy, safety, and concentration strategies of AS in various ocular surface diseases.</p><p><strong>Results: </strong>A total of 1,108 patients were included (mean age: 60.6±15.9 years; 81% female), with most patients between 50 and 79 years old. The most frequent diagnoses included non-Sjögren dry eye (36.4%), and primary (16.3%) and secondary (6.6%) Sjögrenös syndrome-related dry eye, with 20% and 30% being the most commonly prescribed concentrations. The literature supports the use of AS, particularly at a concentration of 20%, in conditions such as dry eye and Sjögren's syndrome, which is consistent with our findings.</p><p><strong>Conclusions: </strong>This integrated analysis provides valuable insight into current clinical practice and may support future decision-making in the treatment of ocular surface disease.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"471-478"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584728","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}
Seminars in OphthalmologyPub Date : 2026-04-01Epub Date: 2025-09-24DOI: 10.1080/08820538.2025.2566600
Mohammad Javed Ali
{"title":"Lacrimal History - Part 56: Doyens of Dacryology Series - The Clinicoanatomical Works of Joseph von Gerlach (1820-1896), Heinrich Heinlein, Jean Riolan (1577-1657), and Florent Cunier (1812-1853).","authors":"Mohammad Javed Ali","doi":"10.1080/08820538.2025.2566600","DOIUrl":"10.1080/08820538.2025.2566600","url":null,"abstract":"","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"379-387"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131889","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}
Seminars in OphthalmologyPub Date : 2026-04-01Epub Date: 2025-09-17DOI: 10.1080/08820538.2025.2559842
Yogita Kadam, Namrata Dagli, RaguKumar Venugopal, Sushrutha Raj, Sonu Goel
{"title":"Global Trends and Emerging Themes in Tele-Ophthalmology Research: A Bibliometric Analysis (1993 to 2024).","authors":"Yogita Kadam, Namrata Dagli, RaguKumar Venugopal, Sushrutha Raj, Sonu Goel","doi":"10.1080/08820538.2025.2559842","DOIUrl":"10.1080/08820538.2025.2559842","url":null,"abstract":"<p><strong>Background: </strong>Tele-ophthalmology is transforming eye care delivery, particularly in remote and underserved areas, where specialist shortages and geographic barriers prevent millions from receiving timely diagnosis and treatment for preventable blindness. Tele-ophthalmology has emerged as a critical solution to bridge these care gaps, with applications ranging from remote screening, diagnosis, and monitoring of conditions like diabetic retinopathy and glaucoma. Despite rapid technological advances and growing implementation, the research landscape lacks literature providing an overview of global trends, collaborative patterns, and emerging innovations in this field, hindering strategic research planning and evidence-based policy development for expanding digital eye care services. This study aims to analyse global trends and emerging themes in tele-ophthalmology research to fill this knowledge void and provide strategic insights for researchers, clinicians, and policymakers.</p><p><strong>Methods: </strong>A comprehensive online literature search was conducted using the Scopus database, retrieving English-language publications related to tele-ophthalmology up to 31st December 2024. Data were extracted and analysed using Biblioshiny in R Studio and VOSviewer. The study assessed annual publication trends, top journals' contributions, authors' contributions, authors' collaboration, keyword co-occurrence, and thematic evolution.</p><p><strong>Results: </strong>A total of 5,498 publications were identified, with an annual growth rate of 9.55%, and nearly 800 articles published in 2023 alone. The United States led in publication output and international collaborations. Dr. Michael F. Chiang published the highest number of articles, with the highest total link strength (174), followed by Dr. R.V. Paul Chan and Dr. J. Peter Campbell (122). Telemedicine and E-Health was the leading journal, followed by the Journal of Telemedicine and Telecare and the Indian Journal of Ophthalmology. Common keywords included \"telemedicine,\" \"diabetic retinopathy,\" \"artificial intelligence,\" and \"COVID-19,\" reflecting major research themes. Thematic analysis showed a shift toward AI integration and digital health solutions in ophthalmology.</p><p><strong>Conclusion: </strong>The field of teleophthalmology has experienced significant and rapid growth in research activity. Recent trends indicate growing integration of artificial intelligence and digital health tools. This bibliometric study provides a comprehensive overview that can inform future research and policy efforts to enhance digital eye care delivery.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"439-449"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145076184","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}
Seminars in OphthalmologyPub Date : 2026-04-01Epub Date: 2025-11-28DOI: 10.1080/08820538.2025.2596539
Mohammad Javed Ali
{"title":"Lacrimal History - Part 80: Doyens of Dacryology Series - The Lesser-Known Lacrimal Surgeons Documented by Julius Hirschberg (1843-1925).","authors":"Mohammad Javed Ali","doi":"10.1080/08820538.2025.2596539","DOIUrl":"10.1080/08820538.2025.2596539","url":null,"abstract":"","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"411-415"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145638719","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}
Seminars in OphthalmologyPub Date : 2026-04-01Epub Date: 2025-06-30DOI: 10.1080/08820538.2025.2524057
Lewis E Fry, Alexis Ceecee Britten-Jones, Sena A Gocuk, Lauren N Ayton, Heather G Mack
{"title":"Real-World Engagement with Free Genotyping by Patients with Inherited Retinal Disease in a Single Private Retinal Centre in Australia.","authors":"Lewis E Fry, Alexis Ceecee Britten-Jones, Sena A Gocuk, Lauren N Ayton, Heather G Mack","doi":"10.1080/08820538.2025.2524057","DOIUrl":"10.1080/08820538.2025.2524057","url":null,"abstract":"<p><strong>Purpose: </strong>Genotyping patients with inherited retinal diseases (IRD) is important for diagnosis, genetic counselling, and future treatments. However, in Australia less than 10% of patients with IRD have undergone genetic testing. Recognised barriers to testing include cost, access, and trust in the treating clinician. We aimed to assess uptake and outcomes to an offer of sponsored (free) genetic testing with home DNA collection, thereby removing typical barriers to genetic testing.</p><p><strong>Methods: </strong>Participation in a sponsored genetic testing program (Invitae Corporation) was offered to adults from a private retinal practice in Australia in July 2022. Email invitations were sent to 233 patients clinically diagnosed with an IRD phenotype by the senior author. Potential participants were ≥18 years old, had no previous diagnostic genetic testing, and had supplied an email address for communication.</p><p><strong>Results: </strong>Emails were successfully delivered to 205 individuals. Response rate to invitation were low, with no reply in the 62% cases (128/205). Of the 58 participants for whom testing was ordered, 47 (47/58, 81%) supplied at-home collected DNA. The solve rate was 34% (16/47), rising to 53% (25/47) when probable solves were included. One of the thirteen families accepted the offer of family studies to clarify the genotype. The most frequent identified IRD-associated gene was PRPH2 (4/16 cases), followed by RHO (2/16 cases).</p><p><strong>Conclusion: </strong>Overall low response, DNA return and acceptance of family testing rates suggest ill-defined human factors affected DNA genetic testing uptake. Improved patient education and follow-up of offers of genetic testing are required to improve patient genotyping.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"464-470"},"PeriodicalIF":2.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529513","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}