Journal of Neuro-Ophthalmology最新文献

{"title":"Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.","authors":"Yiran Jia, Zhiqin Huang, Chunli Chen, Fred K Chen, Libin Jiang","doi":"10.1097/WNO.0000000000002378","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002378","url":null,"abstract":"<p><strong>Background: </strong>C12orf65 (chromosome 12 open reading frame 65) gene encodes a mitochondrial matrix protein essential for the release of newly synthesized proteins from mitochondrial ribosomes. Biallelic pathogenic variants result in loss of function in the protein complex necessary for oxidative phosphorylation. Pathogenic C12orf65 variants have been associated with various inherited neurological diseases, including Behr syndrome, Leigh syndrome, combined oxidative phosphorylation deficiency 7, and hereditary spastic paraplegia.</p><p><strong>Methods: </strong>This was a retrospective case series of 4 children with C12orf65 mutation from 3 unrelated pedigrees of Chinese descent. Clinical and diagnostic data were collected via retrospective medical record review. The phenotypic manifestations were systematically documented, and the genotypic data were analyzed in conjunction with previous reports.</p><p><strong>Results: </strong>Four subjects exhibited optic nerve atrophy, strabismus, progressive lower limb dystonia, and abnormal gait. Whole exome sequencing revealed the c.394C>T variant in C12orf65 in all 4 patients. Three of the patients had coexisting novel MT-ND4 (m.11696 G>A) and OPA1 (c.1817G>A) variants.</p><p><strong>Conclusions: </strong>We analyzed the gene-phenotypic associations of 4 patients in conjunction with previous reports which added to the current understanding of C12orf65-related neurodegenerative disorders. The superimposed mutations in 2 of these patients suggest that the heterogeneity of optic neuropathy and the systemic features associated with C12orf65 pathogenic variants may be altered by the genetic background of mitochondrial or nuclear genes that influence mitochondrial function. We recommend genetic evaluation of C12ORF65-related diseases, including other genes responsible for optic neuropathy, and not just limited to Sanger sequencing.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137849","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":"An Additional Case of Leber Hereditary Optic Neuropathy With G9804A Mutation.","authors":"Samir A Cayenne, Maryam Naser, Sanjana Jaiswal, Elizabeth Arogundade, Peter Mortensen, Andrew G Lee","doi":"10.1097/WNO.0000000000002397","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002397","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069795","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":"Reply: Comparison of Ultrasound Characteristics of Peripapillary Hyperreflective Ovoid Mass-Like Structures (PHOMS) and Optic Disc Drusen in Children.","authors":"Dhristie M Bhagat, Robert A Avery","doi":"10.1097/WNO.0000000000002404","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002404","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069865","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":"Comment: Comparison of Ultrasound Characteristics of Peripapillary Hyperreflective Ovoid Mass-Like Structures (PHOMS) and Optic Disc Drusen in Children.","authors":"Domenico Mucci, Benedetta Cioffi","doi":"10.1097/WNO.0000000000002403","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002403","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069889","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":"Unmasking the Diagnosis of an Orbital Mass.","authors":"Vasiliki P Giannakakos, Robert S Sacchi, Gregory J Parnes, Yan L Zhang, Sofya Gindina, Joyce N Mbekeani","doi":"10.1097/WNO.0000000000002401","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002401","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144992489","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":"See-Saw Nystagmus.","authors":"Luis Martinez-Velazquez, Sandy Samuel, Ryan A Gise","doi":"10.1097/WNO.0000000000002402","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002402","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144992561","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":"Artificial Intelligence Diagnosis of Ocular Motility Disorders From Clinical Videos.","authors":"David Mikhail, Michael Balas, Jonathan A Micieli","doi":"10.1097/WNO.0000000000002393","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002393","url":null,"abstract":"<p><strong>Background: </strong>Multimodal artificial intelligence (AI) models have recently expanded into video analysis. In ophthalmology, one exploratory application is the automated detection of extraocular movement (EOM) disorders. This proof-of-concept study evaluated the feasibility of using Gemini 2.0 to recognize EOM abnormalities, identify the affected eye, and recognize specific movement limitations from publicly available, real-world clinical videos.</p><p><strong>Methods: </strong>We retrospectively collected 114 YouTube videos of EOM disorders, including cranial nerve (CN) palsies, internuclear ophthalmoplegia (INO), supranuclear disorders, nystagmus, and ocular myasthenia gravis (MG), alongside 15 control videos demonstrating normal EOMs. Videos were trimmed to include only the pertinent clinical examinations, and audio was removed to avoid diagnostic cues. Using a standardized zero-shot prompt, Gemini 2.0 analyzed each video via the Google AI Studio platform. Gemini 2.0 was evaluated based on its ability to provide the correct diagnosis, identify the affected eye, and recognize the specific movement limitation (if any). Descriptive statistics, Spearman correlations, and comparative analyses were used to assess performance.</p><p><strong>Results: </strong>Gemini 2.0 correctly identified the primary diagnosis in 43 of 114 videos, yielding an overall diagnostic accuracy of 37.7%. Diagnostic performance varied by condition, with the highest accuracies observed in third nerve palsy (81.1%), INO (80.0%), sixth nerve palsy (66.7%), and ocular MG (20.0%), whereas normal EOMs were correctly classified in 93.3% of cases. In misclassified cases, the correct diagnosis appeared in the differential diagnosis in 15.5% of instances. Laterality was correctly identified in 26.5% of eligible cases overall, 73.1% among correctly diagnosed cases vs. 9.6% in misclassified ones. Similarly, movement limitations were accurately identified in 30.3% of eligible cases overall, with a marked increase to 88.5% accuracy in correctly diagnosed cases compared to 9.6% in misclassified cases. Longer videos moderately correlated with longer processing time (ρ = 0.55, P < 0.001). Significant correlations were observed between correct diagnosis and correct laterality identification (ρ = 0.45, P < 0.001), correct diagnosis and correct movement limitation identification (ρ = 0.61, P < 0.001), and laterality and movement limitation (ρ = 0.51, P < 0.001). Processing time averaged 11.0 seconds and correlated with video length (ρ = 0.55, P < 0.001).</p><p><strong>Conclusions: </strong>This proof-of-concept study demonstrates the feasibility of using Gemini 2.0 for automated recognition of EOM abnormalities in clinical videos. Although performance was stronger in overt cases, overall diagnostic accuracy remains limited. Substantial validation on standardized, clinician-annotated datasets is needed before clinical application.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957804","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":"Deep Learning-Based Detection of Papilledema on Retinal Photographs From Handheld Cameras: A Prospective Study.","authors":"Ayse Gungor, Zhiqun Tang, Jing L Loo, Sharon T L Choon, Shweta Singhal, Reuben F C Ming, Louis Tadayoni, Ilias Sarbout, Nancy J Newman, Valérie Biousse, Raymond P Najjar, Dan Milea","doi":"10.1097/WNO.0000000000002394","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002394","url":null,"abstract":"<p><strong>Background: </strong>Papilledema and other optic neuropathies are critical findings in neuro-ophthalmology that require timely and accurate diagnosis. This study evaluates the performance of a deep learning system (DLS) to identify papilledema and other optic neuropathies, when applied to a large dataset of retinal photographs acquired prospectively with a handheld nonmydriatic camera in a neuro-ophthalmology department.</p><p><strong>Methods: </strong>International multiethnic, multicenter study including 20,533 retinal photographs (10,647 patients) from 31 centers worldwide. The training and internal validation datasets consisted of 18,981 mydriatic retinal photographs (9,830 patients) from 22 countries. The external testing dataset included 1,552 prospectively collected retinal photographs (817 patients) acquired with a handheld camera (Aurora, Optomed, Finland). The DLS segmented the optic disc and peripapillary region, then classified each photograph as 1/\"papilledema,\" 2/\"other\" optic disc abnormalities (i.e., swelling because of other causes, atrophy, etc.), or 3/\"normal.\" The performance of the DLS in classifying optic disc appearance was evaluated using area under the receiver operating characteristic curve (AUC), sensitivity, specificity, and accuracy. Diagnostic outcomes were evaluated at the eye level and at the patient level.</p><p><strong>Results: </strong>The DLS achieved an accuracy of 99.5% (95% confidence interval [CI], 99.1-99.8), a sensitivity of 81.0% (95% CI, 64.1-97.7), a specificity of 99.7% (95% CI, 99.5-99.9), and an AUC of 98.3% (95% CI, 97.6-99.9) for differentiating papilledema from \"others\" and healthy controls.</p><p><strong>Conclusions: </strong>A DLS trained on a large dataset of mydriatic photographs achieved excellent diagnostic performance for detection of papilledema and other optic disc abnormalities when applied to nonmydriatic retinal photographs acquired with a handheld camera in real life conditions.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957865","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":"Photon-Counting Detector CT: Promise of a New Era.","authors":"Reilly A Coombs, Shuai Leng, Laurence J Eckel, Jaclyn Morin, John J Chen, Andrea A Tooley, James A Garrity, Sasha A Mansukhani","doi":"10.1097/WNO.0000000000002391","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002391","url":null,"abstract":"<p><strong>Abstract: </strong>Photon-counting detector CT is an emerging technology that has the promise to dramatically transform clinical practice. It largely overcomes the limitations of traditional CT, offering ultra-high spatial resolution, suppression of metallic artifact, and reduced radiation dose. We report the case of a 44-year-old patient presenting with gaze-evoked vision loss and history of a retained orbital foreign body. Localization of the foreign body on conventional CT was limited by metallic artifacts, and magnetic resonance imaging was contraindicated. Photon-counting detector CT effectively localized the foreign body and guided management. The potential applications of this newer technology in neuro-ophthalmology are still being explored.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957782","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":"Neuro-Ophthalmology Referral Patterns: Learnings From Colombia.","authors":"Sohum Sheth, Lina Ramirez-Sanchez, Juliana Vanessa Rincón-Lopez, Alvaro J Mejia-Vergara","doi":"10.1097/WNO.0000000000002377","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002377","url":null,"abstract":"<p><strong>Background: </strong>There is a global shortage of neuro-ophthalmologists, driven by an aging workforce and declining interest among residents. Emerging data indicate that this supply-demand mismatch results in prolonged patient wait times, leading to evaluation by additional physicians, delayed/incorrect diagnosis, and postponed therapy. However, data on referral patterns are primarily from resource-rich countries. This study examines referral patterns for a neuro-ophthalmology clinic in Bogota, Colombia.</p><p><strong>Methods: </strong>A retrospective chart review analyzed patients referred to the clinic between July 2020 and July 2021. Data included demographics, time from symptom onset to neuro-ophthalmology appointment (NOA), referral-to-NOA time, initial specialty consulted, number of providers seen before NOA, diagnostic tests performed, and diagnoses at referral vs after NOA.</p><p><strong>Results: </strong>Among 535 patients (62.1% female), the median wait from symptom onset to NOA was 365 days (interquartile range [IQR]: 60-500) and 30 days ([IQR: 10-45]) from referral to NOA. Most patients (80.2%) first saw an ophthalmologist, with a mean of 1.1 providers seen before NOA. Common diagnostic tests before NOA included brain MRIs (28.6%), posterior segment optical coherence tomography (24.3%), and visual fields (22.8%). Three hundred twenty-six (63.9%) of patients were either partially or completely misdiagnosed before NOA. Time from symptom onset to NOA was a predictor for fully correct diagnosis by referring provider (P < 0.01), with a shorter time corresponding to a greater likelihood of partially correct diagnosis.</p><p><strong>Conclusions: </strong>Referral delays are frequent, and misdiagnoses before neuro-ophthalmology consultations are common. Enhancing timely access to NOA could significantly improve patient outcomes and reduce unnecessary utilization of health care resources.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957818","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}