Acta Ophthalmologica最新文献

{"title":"Acanthamoeba keratitis – conservative and surgical treatment","authors":"Nora Szentmary","doi":"10.1111/aos.16836","DOIUrl":"https://doi.org/10.1111/aos.16836","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p>Clinical signs of acanthamoeba keratitis are in early stages grey-dirty epithelium, pseudodendritiformic epitheliopathy, perineuritis, multifocal stromal infiltrates, ring infiltrate and in later stages scleritis, iris atrophy, anterior synechiae, secondary glaucoma, mature cataract, and chorioretinitis. Beside triple-topical-therapy, in therapy resistant cases surgical treatment options such as corneal cryotherapy, amniotic membrane transplantation, riboflavin-UVA crosslinking, and penetrating keratoplasty are applied.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.16836","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoinflammatory syndromes: Recent data from the international aida network registries","authors":"Claudia Fabiani,&nbsp;Antonio Vitale,&nbsp;Valeria Caggiano,&nbsp;Bruno Frediani,&nbsp;Luca Cantarini,&nbsp;Gian Marco Tosi,&nbsp;the International AIDA Network","doi":"10.1111/aos.16885","DOIUrl":"https://doi.org/10.1111/aos.16885","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;p&gt;&lt;b&gt;Correspondence to:&lt;/b&gt; Dr Claudia Fabiani, Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Policlinico “Le Scotte”, viale Bracci 16, 53100 Siena, Italy; email: &lt;span&gt;[email protected]&lt;/span&gt;&lt;/p&gt;\u0000 \u0000 &lt;p&gt;The AutoInflammatory Disease Alliance (AIDA) network represents a global collaboration among physicians and researchers aimed at fostering the exchange of knowledge and insights into autoinflammatory disorders and ocular inflammatory diseases. (1,2) At the core of this initiative are international registries, meticulously designed to serve as comprehensive repositories of data for better understanding these complex conditions. Presently, the AIDA team has established ten physician-driven registries targeting specific inflammatory diseases, encompassing a wide spectrum such as non-infectious uveitis, non-infectious scleritis, Behcet's disease, Still's disease, spondyloarthritis, monogenic autoinflammatory diseases, and Vexas syndrome. These registries are pivotal in accumulating detailed clinical data related to diseases affecting ocular structures, thus facilitating extensive research endeavors.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;The primary objective of these registries is to mitigate the fragmentation of clinical and research experiences inherent in inflammatory ocular diseases, thereby enabling robust research based on large patient cohorts. The aims and methodologies of the AIDA registries have been meticulously outlined in published papers. (3-7) Employing a physician-driven, population- and electronic-based approach, these registries utilize the REDCap platform for comprehensive data collection. Data are meticulously gathered both retrospectively and prospectively, covering various aspects including demographic, genetic, clinical, laboratory, instrumental, and treatment details. Crucially, the employment of standardized common data elements ensures efficient data entry and consistency across diverse sites.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;Maintaining utmost respect for patient privacy and data security, the AIDA registries strictly adhere to EU General Data Protection Regulations and international standards. Advanced pseudonymization tools like SPIDER safeguard patient identities, facilitating secure data exchange between registries without compromising confidentiality. The AIDA network boasts a vast membership, spanning 235 clinical sites across 46 countries and five continents, with 683 investigators actively contributing to ongoing research efforts. Since the launch of the Registries on ocular inflammatory diseases, enrollment has exceeded 4,020 patients, underscoring the pivotal role of recruitment activities in routine clinical practice.&lt;/p&gt;\u0000 ","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.16885","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalente of color vision anomalies among Brazilian industrial workers and the telemedicine role","authors":"Roberto Machado,&nbsp;Pedro Ribeiro Junior,&nbsp;Mauro Guimarães Filho,&nbsp;Ariadne Negreiros,&nbsp;Marco Negreiros","doi":"10.1111/aos.17048","DOIUrl":"https://doi.org/10.1111/aos.17048","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> To evaluate the use of a color blindness test (Eyecare Color Vision Test®) applied through of telemedicine to assess the prevalence of color blindness, its subtypes and intensity of presentation in Brazilian industrial workers.</p>\u0000 \u0000 <p><b>Methods:</b> An observational, cross-sectional, and retrospective study was carried out. The study sample was a convenience sample, which included all patients from a company with headquarters in all Brazilian regions who underwent consultations for occupational purposes via telemedicine through Eyecare clinic between the months of October 2023 and January 2024. All patients underwent Eyecare Color Vision Test®, a validated virtual test based on the Ishihara Test that consists of 14 images with symbols and numbers. A score above 7 was considered normal for color vision defect.</p>\u0000 \u0000 <p><b>Results:</b> 2197 workers from 5 regions of Brazil were evaluated through telemedicine. 91.81% were male, the mean age was 37 years, mean visual acuity for right eye was 0.24 (± 0.18) and for left eye was 0.19 (± 0.16). 50 patients, all male, showed changes in the Eyecare Color Vision Test® which resulted in a prevalence of color blindness of 2.28<b>%</b>. From patients with color blindness, 44% had protanomaly or deuteranomaly, 26% had deuteranopia, 18% had protanopia and 12% had an undiagnostic subtype.</p>\u0000 \u0000 <p><b>Conclusions:</b> Our study was in line with international literature since we found a 2.28% prevalence of CVD in Brazilian industrial workers. Furthermore, we were able to demonstrate that telemedicine can be an important tool for democratizing access to eye health.</p>\u0000 \u0000 <div><b>References</b><ol>\u0000 \u0000 <li>Parikh D, Armstrong G, Liou V, Husain D. Advances in Telemedicine in Ophthalmology. Semin Ophthalmol. 2020 May 18;35(4):210–5; 30.</li>\u0000 \u0000 <li>Sorkin N, Rosenblatt A, Cohen E, Ohana O, Stolovitch C, Dotan G. Comparison of Ishihara Booklet with Color Vision Smartphone Applications. Optometry and Vision Science. 2016 Jul;93(7):667–72.</li>\u0000 </ol>\u0000 </div>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Macular edema following ophthalmic surgery","authors":"Tina Xirou","doi":"10.1111/aos.16872","DOIUrl":"https://doi.org/10.1111/aos.16872","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p>Cystoid macular edema (CME) is a well known and common postoperative complication in cases undergoing ophthalmic surgeries. CME is the result of the disturbance of the blood-aqueous barrier (BAB) and blood-retinal barrier (BRB), leading to increased vascular permeability resulting in macular edema. Inflammation and vitreous traction on the macula may contribute to the development of macular edema. Fluid accumulation mainly in the outer plexiform layer is a significant cause of visual impairment. A higher incidence of CME observed in patients with pre-existing vascular or inflammatory conditions and/or vitreous pathologies. The rationale for clinical or surgical treatment of macular edema is based on the understanding and the inhibition of these pathophysiological mechanisms. Advances in imaging technology such as optical coherence tomography (OCT) and OCT angiography (OCT-A) are tremendously useful tools that provide important information regarding the anatomical integrity of the retina, its vascular damage, or the existence of epiretinal tissue that adds a tractional component. Pars plana vitrectomy (PPV) is a viable option in the management of CΜE, firstly helps to release the tractional component, sometimes underestimated, and secondly reduces the inflammatory components from the vitreous cavity. In our days vitrectomy has become a much safer surgical procedure, serious complications, such as retinal detachment are becoming less frequent and although the first line treatment for post-surgical CME is medical, PPV should not be delayed in order to avoid the sequelae of longstanding macular edema.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.16872","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The future of ocular imaging: functional OCT versus deep learning","authors":"Leopold Schmetterer","doi":"10.1111/aos.16812","DOIUrl":"https://doi.org/10.1111/aos.16812","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p>The future of ocular imaging lies at the intersection of two powerful technologies: Functional Optical Coherence Tomography (OCT) and Deep Learning. Functional OCT represents a leap forward in imaging technology by integrating traditional OCT with functional measurements like blood flow, tissue stiffness, tissue birefringence, oxygen metabolism and optoretinography. This comprehensive may offers deeper insights into ocular health and disease progression than conventional structural OCT. By capturing both structural and functional information, Functional OCT may our ability to detect and monitor conditions such as myopia, glaucoma, diabetic retinopathy, and age-related macular degeneration. Deep Learning, on the other hand, is a subset of artificial intelligence, analyzing the vast amounts of data generated by ocular imaging modalities. Through sophisticated algorithms, Deep Learning can identify intricate patterns and features in images that may elude human interpretation. This capability not only enhances diagnostic accuracy but also aids in automating image analysis, improving efficiency, and reducing the burden on healthcare professionals. The synergy between Functional OCT and Deep Learning holds immense promise for the future of ocular imaging. By integrating these technologies, we can achieve a comprehensive understanding of ocular physiology and pathology while enhancing diagnostic accuracy and efficiency. This convergence may lead to the development of advanced systems capable of real-time analysis and interpretation, facilitating point-of-care diagnostics and remote monitoring. However, realizing this potential requires addressing various challenges, including data privacy concerns, standardization of imaging protocols, and regulatory approval. Collaborative efforts between researchers, clinicians, and industry stakeholders are essential to overcoming these hurdles and harnessing the full benefits of Functional OCT and Deep Learning in ophthalmic practice.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.16812","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bacterial contamination of extraocular fluid and antibiotic susceptibility during cataract surgery and vitrectomy","authors":"Seung Min Lee","doi":"10.1111/aos.17137","DOIUrl":"https://doi.org/10.1111/aos.17137","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> We performed a retrospective case-series study to investigate the extent of bacterial contamination and antibiotic susceptibility of extraocular fluid at the beginning and end of cataract surgery and vitrectomy after disinfection.</p>\u0000 \u0000 <p><b>Methods:</b> Medical records of consecutive patients who underwent cataract surgery or vitrectomy with extraocular fluid culture were reviewed. Patients with infection, recent ocular trauma, immunocompromised state, or antibiotics treatment were excluded. During surgical skin preparation, povidone-iodine (PvI) was poured through palpebral fissure was done. At the initiation, a flush of PvI and BSS irrigation was added into the conjunctival sac. 1ml of fluid was collected at the beginning (Pre-fluid) and end of the surgery (Post-fluid). Sample were collected from both canthi while instilling BSS. The samples were injected into the BacT/Alert PF pediatric blood culture bottle. Bacterial identification and antibiotics susceptibility test were performed. The χ² test or Fisher's exact test was performed to determine differences in results depending on surgical method or timing of sample collection.</p>\u0000 \u0000 <p><b>Results:</b> Two hundred thirty-three eyes were enrolled, including 72 eyes with cataract surgery and 161 eyes with vitrectomy. There were 31 (13.3%) positive cultures in Pre-fluid and 71 (30.5%) positive cultures in Post-fluid. The positive culture rate was higher in Post-fluid (<i>p</i> &lt; 0.001, χ² test). The following organisms were frequently identified: Staphylococcus epidermidis (sample size <i>N</i> = 74), S. aureus (<i>N</i> = 10) and S. lugdunensis (<i>N</i> = 6). All types of strains didn’t showed resistance to vancomycin or 3^rd generation cephalosporin.</p>\u0000 \u0000 <p><b>Conclusions:</b> Despite disinfection in ocular surgery, bacterial contamination may occur at the surgical site, and bacterial contamination was confirmed more frequently at the end of surgery. The most common organism was S. epidermidis, and most of them were susceptible to empirical antibiotics.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17137","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integration of ipsc-derived human photoreceptors into rodent models of retinal degeneration","authors":"Marius Ader","doi":"10.1111/aos.16893","DOIUrl":"https://doi.org/10.1111/aos.16893","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p>A main cause for vision impairment and blindness is the loss of light-sensing photoreceptors in the retina. However, photoreceptors do not regenerate in mammals including humans, thus cell transplantation has emerged as a potential treatment approach for blinding diseases. Therefore, a pipeline for assessing the transplantation of human stem cell-derived photoreceptors into mouse models of retinal generation was developed. Human photoreceptor-specific reporter iPSC-derived retinal organoids were used for isolation of donor cells via flow-cytometry. After transplantation we observed extensive incorporation of human photoreceptors in mice with cone dysfunction/loss. This incorporative phenotype was validated in both cone-only as well as pan-photoreceptor transplantations. Rather than forming a glial barrier, Müller cells extend throughout the graft, and additionally form a series of adherens junctions between mouse and human cells, reminiscent of an outer limiting membrane. Donor-host interaction appears to promote transplant polarization as well as development of morphological features critical for light detection, namely formation of inner- and outer-segments mainly oriented towards the host retinal pigment epithelium. Putative synapse formation and graft function was observed both at the structural level and by electrophysiological analysis using micro-electrode recordings. Transcriptomic analysis reveals increased expression of cone photoreceptor maturation genes with time after transplantation, in comparison to cones of age-matched retinal organoids in vitro. While highly integrative donor cell clusters were observed in partially degenerated recipients, transplantation into hosts with late-stage degeneration, i.e. with complete photoreceptor loss, lead to more wide-spread distribution of donor cells within the sub-retinal space and reduced signs for integration and maturation. Thus, interaction with the host retina appears to be important for graft integration, maturation, polarization and function. Overall, these results show that human photoreceptors interact readily with a partially degenerated mouse retina.</p>\u0000 \u0000 <p>Funding:</p>\u0000 \u0000 <p>BMBF – ReSight (01EK1613A)</p>\u0000 \u0000 <p>DFG – AD375/7-1 (SPP2127), SEQ2146</p>\u0000 \u0000 <p>FFB – TA-RM-0522-0824-TUD-TRAP</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.16893","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endothelial cell heterogeneity in arteriolar annuli: Implications in retinal blood flow regulation","authors":"David Ramos González,&nbsp;Mariana López-Luppo,&nbsp;Patricia Jaramillo,&nbsp;Ana Carretero,&nbsp;Victor Nacher,&nbsp;Marc Navarro,&nbsp;Jesús Ruberte","doi":"10.1111/aos.17069","DOIUrl":"https://doi.org/10.1111/aos.17069","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> To investigate the endothelial cell heterogeneity in retinal arterioles with special focus in arteriolar annuli.</p>\u0000 \u0000 <p><b>Methods:</b> We compared structural and molecular characteristics between endothelial cells located in arteriolar annuli and endothelial cells located in other regions of retinal arterioles. Immunohistochemical, histochemical, and electron transmission microscopy assays were performed.</p>\u0000 \u0000 <p><b>Results:</b> Molecular analysis showed that arteriolar annuli endothelial cells showed a decreased expression of PECAM-1 together with an increased expression of NADPH-diaphorase in comparison with other regions of retinal arterioles. PECAM-1 is involved cell-cell adhesion. Therefore, this result suggests a decrease in cellular adhesion at the arteriolar annuli. NADPH diaphorase reflects nitric oxide synthase activity. Thus, its increase indicates NO synthesis suggesting localized vasodilation and decrease of platelet aggregation at arteriolar annuli. An increased expression of von Willebrand factor in concomitance with a higher presence of Weibel-Palade bodies was also observed in endothelial cells at the arteriolar annuli, suggesting that von Willebrand factor is stored and released in a regulated manner. Furthermore, transmission electron microscopy showed the presence of two endothelial cell subtypes in arteriolar annuli: activated endothelial cells, and shear stress-adapted endothelial cells. Activated endothelial cells exhibited enlarged nuclei with chromatin condensed in the periphery, swollen perinuclear space, and an increased number of vesicles and caveolae. By contrast, shear stress-adapted endothelial cells were thicker than the rest of endothelial cells and showed bilobulated nuclei, a well-developed endoplasmic reticulum, as well as large increase in the number of mitochondria.</p>\u0000 \u0000 <p><b>Conclusions:</b> All our results suggest that endothelium at arteriolar annuli, a structure suggested to regulate retinal blood flow by exerting a sphincter-like activity, is formed by a subset of endothelial cells endowed with distinctive structural and molecular features which allow them to play a key role in the maintenance of blood flow through two mechanisms: the establishment of an antithrombotic milieu, and the vasodilation of arteriolar annuli.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17069","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New insights on the genetic basis underlying hereditary high myopia in a cohort of more than 100 spanish families","authors":"Laura González,&nbsp;Xènia Ferrer,&nbsp;Yasmin Soares de Lima,&nbsp;Sandra Suescun Busto,&nbsp;Pilar Méndez-Vendrell,&nbsp;Sheila Ruiz-Nogales,&nbsp;Laura Zahino Lora,&nbsp;Ana Nolla Del Saz,&nbsp;Claudia Garrido,&nbsp;Oscar Recasens,&nbsp;Rafael Navarro,&nbsp;Esther Pomares","doi":"10.1111/aos.16927","DOIUrl":"https://doi.org/10.1111/aos.16927","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> This study focuses on the identification of new mutations and novel genes associated with hereditary high myopia, in order to determine the most prevalent variants in the Spanish population and to stablish the clinical characterization through the study of genotype-phenotype correlations.</p>\u0000 \u0000 <p><b>Methods:</b> 119 Spanish families (390 patients) were recruited. DNA samples from 347 patients were analysed by Whole Exome Sequencing. In silico analyses were carried out prioritising a custom-designed panel of 549 genes related to myopia. Clinical ophthalmological assessments were performed to all the study subjects.</p>\u0000 \u0000 <p><b>Results:</b> Genetic analysis was performed in 102 families affected by high myopia. In more than 20% of them, a clear genetic cause was identified in genes already involved with high myopia. Additionally, potentially pathogenic variants in the myopia-related genes were identified in about 25% of the cases, and in 15% of the families, we identified likely pathogenic variants in candidate genes that have not yet been directly associated to myopia. These evidence lead us to estimate the genetic diagnosis in approximately 50% of the families. High myopia genes found can be classified into 4 groups according to their function: extracellular matrix, retina expression, SMAD family and others. Differences in clinical characterization between groups were observed.</p>\u0000 \u0000 <p><b>Conclusions:</b> We were able to point out a possible genetic cause in about 50% of the families. Furthermore, we target new genes that could be involved in the molecular basis of hereditary high myopia, expanding the knowledge of this condition. High pathological myopia can be correlated to the gene function.</p>\u0000 \u0000 <p><b>References:</b> High myopia occurs when the spherical refractive error exceeds -6.00 diopters or the axial length of the eye is greater than 26 mm. Genetic factors play a crucial role in its development, since it has an estimated heritability in more than 70% of cases, according to the literature.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.16927","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AI-assisted diagnosis of multiple sclerosis via optical coherence tomography","authors":"Carlos Santana Plata,&nbsp;Ines Munuera Rufas,&nbsp;Elisa Funes Perez,&nbsp;Jacobo Yañez Merino,&nbsp;María Sopeña Pinilla,&nbsp;Olga Ciubotaru Ciubotaru,&nbsp;Ana Pueyo Bestué,&nbsp;Ignacio Leonardo Pueyo Bestué,&nbsp;Diego Fernandez Velasco,&nbsp;Victor Mallen Gracia","doi":"10.1111/aos.17163","DOIUrl":"https://doi.org/10.1111/aos.17163","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <p><b>Aims/Purpose:</b> This study aims to evaluate the ability of inter-eye asymmetry and retinal structure thicknesses, obtained via the Posterior Pole protocol in Optical Coherence Tomography (OCT), to distinguish between healthy controls and patients with recently diagnosed multiple sclerosis (MS). Additionally, it aims to develop a convolutional neural network (CNN) for assisted diagnosis using these measurements.</p>\u0000 \u0000 <p><b>Methods:</b> Two cohorts, one with relapsing-remitting MS (RRMS) patients (<i>n</i> = 79) and another with healthy controls (<i>n</i> = 69), were recruited. Structural retinal measurements were obtained using the Spectralis OCT device. The analysis focused on thickness differences in nine retinal layers and their inter-eye asymmetry. Statistical methods included the Shapiro-Wilk test, Student's t-test, χ2 test, and area under the receiver operating characteristic (AUROC) curve. A CNN was trained to classify patients and controls based on the most discriminant retinal measurements.</p>\u0000 \u0000 <p><b>Results:</b> The study found significant thinning in the ganglion cell layer (GCL) and inner plexiform layer (IPL) of RRMS patients compared to controls, with AUROC values of 0.82 and 0.78, respectively. Inter-eye asymmetry was also notable in these layers, particularly the GCL (AUROC = 0.75) and IRL (AUROC = 0.74). The CNN, utilizing GCL thickness and IPL inter-eye difference as inputs, achieved an accuracy of 0.87, sensitivity of 0.82, and specificity of 0.92.</p>\u0000 \u0000 <p><b>Conclusions:</b> The study demonstrates that neuroretinal thinning and inter-eye differences in specific retinal layers, measurable by the Posterior Pole protocol in OCT, can effectively discriminate between MS patients and healthy controls. The CNN developed shows high accuracy in MS diagnosis, supporting the potential of OCT and AI integration in clinical settings. Further research is needed to validate these findings across larger and more diverse populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":"103 S284","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1111/aos.17163","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143116824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}