Neuro-Ophthalmology最新文献

{"title":"Aquaporin-4 Antibody-Positive Optic Neuritis: A Comparison of Clinical Characteristics and Visual Prognosis Between Two Consecutive Decades.","authors":"Yasuyuki Takai, Akiko Yamagami, Mayumi Iwasa, Kenji Inoue, Masato Wakakura, Toshiyuki Takahashi, Keiko Tanaka","doi":"10.1080/01658107.2025.2587055","DOIUrl":"10.1080/01658107.2025.2587055","url":null,"abstract":"<p><p>The diagnosis and treatment of aquaporin-4 antibody-positive optic neuritis (AQP4-ON) have evolved significantly over the past 20 years. We analysed 39 patients with AQP4-ON (43 eyes) treated at Inouye Eye Hospital between 2004 and 2024, dividing them into two groups: early (April 2004-March 2014, <i>n</i> = 22) and late (April 2014-March 2024, <i>n</i> = 17). We examined the clinical courses and best-corrected visual acuity (BCVA) 6 months after treatment. The age at onset was 57 (15, 74) years in the early group and 43 (25, 75) years in the late group (<i>p</i> = .38). All episodes were treated with at least one course of intravenous methylprednisolone (IVMP). Plasmapheresis was implemented in 1 eye (3.8%) in the early group and seven eyes (41.1%) in the late group, indicating a significantly higher use in the late group (odds ratio 16.3, 95% CI 1.7-815, <i>p</i> = .004). The final BCVA was 0.70 (-0.08, 3.40) logMAR in the early group and 0.10 (-0.08, 2.90) logMAR in the late group, with the late group showing significantly better outcomes (<i>p</i> = .042). In the late group, visual prognosis improved, and the introduction of plasmapheresis increased. Advancements in diagnosis and treatment may have contributed to the introduction of plasmapheresis in severe cases.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 3","pages":"222-230"},"PeriodicalIF":0.8,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13166277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147931280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Features and Management of Optic Neuritis in a Cohort of Patients with Combined Central and Peripheral Demyelination.","authors":"Kaminie Moodley, Hadi Karimi, Anandan A Moodley, Simon Rinaldi","doi":"10.1080/01658107.2025.2572682","DOIUrl":"10.1080/01658107.2025.2572682","url":null,"abstract":"<p><p>Optic neuritis in combined central and peripheral demyelination (CCPD ON) is mainly reported from Eastern countries, with limited knowledge of its characteristics in Africa. Patients meeting both the EAN/PNS (European Academy of Neurology/Peripheral Nerve Society) criteria for chronic inflammatory demyelinating polyneuropathy (CIDP) and clinical criteria for ON were described in this study which involved antibody screening (ganglioside, NF186, NF155), myelin co-culture screens, CSF analysis, nerve conduction studies, visual evoked potentials (VEPs), optical coherence tomography (OCT), MR imaging and treatment outcomes, based on international guidelines for ON, CIDP, and CCPD, with minor modifications. Twelve patients (12/122, 9.8%) were included in the study. Clinical examination, VEPs, OCT and visual fields were consistent with anterior visual pathway dysfunction and nerve conduction studies confirmed peripheral demyelination. None of the patients had clinical evidence of a retinitis or vitritis. Five (42%) had symmetrical white matter disease including the corpus callosum and retro lentiform limb of internal capsule and one had MS-like lesions. Five (42%) had asymmetrical optic nerve (orbital) enhancement, and 2 (16%) optic sheath enhancement. Two were positive for NF155 antibodies, one had serum and CSF IgG immunoreactivity against non-myelinating Schwann cells. Eleven (91%) were responsive to immunotherapy with good functional recovery as reflected by post treatment visual acuity and inflammatory neuropathy cause and treatment (INCAT) scores. Visual symptoms in CIDP should alert the clinician to underlying CCPD. Early escalation therapy, which may include B-cell depleting therapy, leads to significant recovery which highlights the importance of early diagnosis and prompt escalation therapy. Prospective studies, to identify novel shared peripheral and central myelin epitopes, will fill diagnostic gaps, perhaps even in idiopathic ON, ultimately resulting in bespoke therapies.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 2","pages":"143-158"},"PeriodicalIF":0.6,"publicationDate":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12990945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147474384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in <i>SLC25A46</i> Gene Encoding the Mitochondrial Ugo1-Like Protein.","authors":"Pascal Reynier, Patrizia Amati-Bonneau, Valérie Desquiret-Dumas, Marc Ferré, Naïg Gueguen, Solenn Plouzennec, Mathieu Michel, Arnaud Chevrollier, Antoine Pegat, Christophe Orssaud","doi":"10.1080/01658107.2025.2581675","DOIUrl":"https://doi.org/10.1080/01658107.2025.2581675","url":null,"abstract":"<p><p>Biallelic pathogenic variants in the <i>SLC25A46</i> gene are responsible for various neurological syndromes, including Charcot-Marie-Tooth disease type 6B, pontocerebellar hypoplasia type 1E, Leigh syndrome, progressive myoclonic ataxia and Parkinson's disease, most of them being associated with optic atrophy. We here report the case of a 26-year-old female patient with a slowly progressive and apparently isolated form of optic neuropathy due to the NM_138773.4:c.[327-2A > T];[410A > G] compound heterozygous variants in this gene. The presence of a subclinical peripheral neuropathy revealed by electroneuromyography confirmed the responsibility of these <i>SLC25A46</i> variants. The absence of functional and structural mitochondrial abnormalities in the patient's fibroblasts was consistent with the mild neurological phenotype. This case report suggests that <i>SLC25A46</i> gene merit consideration during genetic testing for both syndromic and isolated optic neuropathies.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"96-100"},"PeriodicalIF":0.8,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to Dr Kemal Örnek Regarding Comments on: \"Compound Heterozygosity for the C6777T Mutation of the MTHFR Gene and the FII G20210A Mutation of the Prothrombin Gene in Sequential Bilateral Anterior Ischemic Optic Neuropathy\".","authors":"Anastasia Tsiogka, Georgios Vlachos, Athanasios Galanopoulos, Tryfon Rotsos, Stylianos Kandarakis, Anthi Nikolopoulou, Efthymios Karmiris, Klio I Chatzistefanou","doi":"10.1080/01658107.2025.2575369","DOIUrl":"https://doi.org/10.1080/01658107.2025.2575369","url":null,"abstract":"","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 2","pages":"206-207"},"PeriodicalIF":0.8,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13000963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Herpes Zoster Ophthalmicus Complicated by Orbital Apex Syndrome.","authors":"Chris Wallace-Carrete, Chase Paulson, Bradley J Katz","doi":"10.1080/01658107.2025.2567475","DOIUrl":"10.1080/01658107.2025.2567475","url":null,"abstract":"<p><p>A 63-year-old male with type 2 diabetes developed herpes zoster ophthalmicus (HZO), initially presenting with a left-sided headache and eyelid itching. He was misdiagnosed with cluster headache but later returned with a vesicular rash, prompting treatment with IV acyclovir. He later exhibited ptosis, diplopia, and vision loss in the left eye. Examination revealed proptosis, ophthalmoplegia, RAPD, and corneal anesthesia. MRI revealed enhancement of the left extraocular muscles and optic nerve sheath, consistent with orbital apex syndrome (OAS). Lumbar puncture confirmed varicella zoster virus involvement, and repeat imaging revealed CNS vasculitis and a subacute thalamic infarct. The patient was treated with antivirals, IV steroids, and antiplatelet therapy. Visual acuity and motility improved significantly post-treatment. This case highlights the rare but serious complication of OAS secondary to HZO. OAS involves dysfunction of multiple cranial nerves and may mimic other orbital syndromes but is distinguished by optic nerve involvement. Prompt recognition and aggressive treatment are critical to prevent permanent visual and neurological deficits in HZO-associated OAS.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 5","pages":"500-503"},"PeriodicalIF":0.6,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13540166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148888082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome.","authors":"Ana Maria Cunha, Sérgio Estrela-Silva, João Barbosa-Breda, Ana Grangeia, Ângela Carneiro, Fernando Falcão Dos Reis, Olinda Faria","doi":"10.1080/01658107.2025.2574723","DOIUrl":"https://doi.org/10.1080/01658107.2025.2574723","url":null,"abstract":"<p><p>To evaluate quantitative microvascular ocular features using optical coherence tomography angiography (OCTA) in patients with Wolfram syndrome (WFS) and compared it with healthy controls. This cross-sectional study included patients with WFS and healthy controls. Diagnosis of WFS was based on clinical presentation and identification of biallelic pathogenic variants in the WFS1 gene. Ophthalmic and systemic examinations were performed. Spectral Domain OCTA scans of the optic nerve head (ONH), peripapillary region, and macular area were analyzed in patients able to undergo the exam and compared to controls. Fifty-seven eyes were included: 22 eyes from 11 WFS patients and 35 eyes from 18 healthy controls, from six families with WFS. Optic atrophy (100%) and diabetes mellitus (90.9%) were the most common systemic findings, followed by neurologic, urologic, and psychiatric disorders (each 63.6%), neurosensorial deafness (54.5%), and diabetes insipidus (9.1%). Best-corrected visual acuity ranged from light perception to 0.1 logMAR, with a mean of 0.97 ± 0.69 logMAR. OCTA analysis revealed significantly lower whole-image vessel density (VD), inside-disc VD, and peripapillary VD in WFS patients compared to controls (<i>p</i> < .001). The macular region showed significantly reduced parafoveal superficial capillary plexus (SCP) vessel density (<i>p</i> < .001). Sectoral analysis showed decreased parafoveal SCP VD in the nasal, inferior, and superior sectors (<i>p</i> < .001). WFS is a progressive neurodegenerative disorder with severe ocular and systemic manifestations. OCTA demonstrated reduced vessel density in all examined regions in WFS patients, suggesting microvascular impairment may contribute to neurodegeneration and structural retinal changes.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 2","pages":"125-133"},"PeriodicalIF":0.8,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12990934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147474479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebellar Degeneration Causing Saccadic Dysmetria and Ocular Flutter: A Seronegative Paraneoplastic Syndrome.","authors":"Anthony P Zampino, Mark Figgie, Aasef G Shaikh, Alessandro Serra","doi":"10.1080/01658107.2025.2567476","DOIUrl":"10.1080/01658107.2025.2567476","url":null,"abstract":"<p><p>We describe a 68-year-old woman with metastatic small cell lung cancer, in remission, who presented with several months of moderately progressive truncal, gait ataxia, followed by development of saccadic dysmetria and ocular flutter. CSF analysis revealed lymphocytic pleocytosis, normal protein and glucose, with four oligoclonal bands. She was diagnosed with a probable paraneoplastic syndrome and successfully treated with high dose intravenous methylprednisolone and plasmapheresis, with resolution of eye movement abnormalities, and improvement of ataxia. In this case, ocular flutter might have been caused by indirect instability of the brainstem network due to impairment of the FOR projections to the omnipause neurons (OPN) in the pontine saccadic burst generator area. Identifying which patients with cancer may benefit from immunotherapy remains a challenge. Our case suggests that seronegative cerebellar paraneoplastic syndromes may at least partially respond to immunotherapy with methylprednisolone and plasmapheresis, which should be considered early on in the treatment plan.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 5","pages":"504-506"},"PeriodicalIF":0.6,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13540141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148888118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterisation of Ocular Manifestations in Patients with Multiple Sclerosis in Colombia: A Multicentric Study.","authors":"Alejandro Manrique-Samer, Carlos Cifuentes-González, José Vicente Álvarez-Martínez, William Rojas-Carabali, María Camila Cortes-Albornoz, Alberto Vélez Van-Meerbeke, Paola Andrea Ortiz-Salas, Adriana Casallas-Vanegas, Claudia M Guío-Sánchez, Juanita Cardona-López, Germán Mejía-Salgado, Alejandra de-la-Torre","doi":"10.1080/01658107.2025.2563194","DOIUrl":"10.1080/01658107.2025.2563194","url":null,"abstract":"<p><p>To describe the ocular manifestations in multiple sclerosis (MS) patients in Colombia. We conducted a retrospective observational study of electronic medical records from MS patients evaluated at three referral centres in Bogotá, Colombia, between 2013 and 2020. Inclusion criteria comprised adult patients diagnosed with MS, confirmed by neurologists following the 2017 McDonald criteria. Data on patient demographics, MS phenotypes, ocular symptoms, clinical findings, and treatments were collected from the clinical charts and analysed using descriptive statistics. Optic neuritis was the most common ocular condition (34.1%), followed by glaucoma (6.1%) and nystagmus (4.5%). Other reported conditions included nerve palsies, uveitis, retinal vasculitis, and scleritis (0.8%-2.3%). Of the 618 MS patients reviewed, 132 (19.4%) had ocular manifestations reported. Most were female (71.2%), with a mean age of 34.9 ± 11.8 years. Ocular manifestations were frequent in patients with MS in this Colombian sample. Optic neuritis is the most common, but glaucoma and other ocular pathologies can also develop. Therefore, due to the frequent co-occurrence of these conditions, patients with MS or optic neuritis should have rigorous follow-up care coordinated between ophthalmologists and neurologists.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 2","pages":"134-142"},"PeriodicalIF":0.6,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12990931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147474399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients.","authors":"Marius B Maartensson, Steffen Hamann","doi":"10.1080/01658107.2025.2553584","DOIUrl":"10.1080/01658107.2025.2553584","url":null,"abstract":"<p><p>Optic disc drusen (ODD) is a slowly progressive, neurodegenerative optic neuropathy with incompletely described symptomatology. We aimed to investigate correlations between visual symptoms, optic nerve head anatomy, and visual function in a cohort of patients with ODD. Patients with optical coherence tomography (OCT)-verified ODD enrolled in a prior study (2017-2024) and consenting to recontact were invited to participate. Participants completed a National Eye Institute Visual Function Questionnaire-25 adapted for ODD (VFQ-25+), systematic OCT scan of the macula and optic nerve head, and a 30-degree automated perimetry. We included 118 patients (234 eyes). Comparing patients with bilateral superficial ODD (<i>n</i> = 46) to those with bilateral deep ODD (<i>n</i> = 26), there were no significant differences in symptoms such as transient visual obscurations (73.9% vs. 73.1%, <i>p</i> = .94) or nyctalopia (78.3% vs. 61.5%, <i>p</i> = .13), nor in VFQ-25+ scores (80.7 vs. 85.8, <i>p</i> = .06). Analyzing individual eyes, eyes with superficial ODD (<i>n</i> = 137) showed significantly lower macular ganglion cell layer and inner nuclear layer volumes and peripapillary retinal nerve fiber layer thickness (<i>p</i> < .0001) and a stronger correlation between perimetric mean deviation (MD) and ODD size (<i>R</i> = 0.75, <i>p</i> = 7.4e-26) compared to eyes with deep ODD (<i>n</i> = 97, <i>R</i> = 0.33, <i>p</i> = .0011). Although superficial ODD was associated with more pronounced declines in visual function, symptom reporting was consistent across ODD locations. Similar VFQ-25+ scores among different patient phenotypes suggest perimetric and retinal changes may not be readily perceived by patients.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"56-65"},"PeriodicalIF":0.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinal Migraine: A Case Report with Brief Literature Review and Illustrative Findings.","authors":"Esteban Agudelo Quintero, Santiago Vasquez Builes, Andrés Castaño Parra","doi":"10.1080/01658107.2025.2549895","DOIUrl":"10.1080/01658107.2025.2549895","url":null,"abstract":"<p><p>Retinal migraine (RM) is defined according to the International Classification of Headache Disorders (ICHD-3), as \"recurrent attacks of monocular visual disturbances, including flashes, scotomas or blindness, that is accompanied or preceded by headache within 60 minutes of the onset of visual symptoms,\" which are entirely reversible. While most symptoms resolve spontaneously, persistent visual deficits and abnormal ophthalmological findings have been described in some cases. The underlying pathophysiology of these persistent features remains elusive. This case report details a patient with RM who exhibited documented visual field defects on computerized testing.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 4","pages":"387-392"},"PeriodicalIF":0.6,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}