Journal of Neuro-Ophthalmology最新文献

{"title":"A Case Report and Review of an Atypical Presentation in the Oldest Documented Patient With Susac Syndrome.","authors":"Dana H Chung, Jonathan Amaro-Barron, Jaqueline Stoutin, Erika L Weil, Emily A Eton","doi":"10.1097/WNO.0000000000002438","DOIUrl":"10.1097/WNO.0000000000002438","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e56-e57"},"PeriodicalIF":2.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499228","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":"Literature Commentary June, 2026.","authors":"","doi":"10.1097/WNO.0000000000002480","DOIUrl":"10.1097/WNO.0000000000002480","url":null,"abstract":"<p><p>In this issue, the following 4 articles are reviewed by Drs. Mark L. Moster and Deborah I. Friedman, most of which include authors who are members of NANOS:Pakeerathan T, Davis J, Henderson AD, et al. OCT-based differentiation of first acute optic neuritis: an international study of 111 patients with NMOSD and MOGAD. Neurol Neuroimmunol Neuroinflamm. 2026;13:e200531. Brownlee WJ, Maccarrone D, Nistri R, et al. Performance of the 2024 McDonald criteria in patients under evaluation for suspected multiple sclerosis. Neurology. 2026;106:e214688. Erekat, Asala N, Williams, Zoë R, Morgenstern, Rachelle, et al. From observation to prediction: machine learning analysis of progression of visual loss in nonarteritic anterior ischemic optic neuropathy. Am J Ophthalmol. 2026;11:S00002-9394(26)0064-4. Searson JC, Chang YM, Frank S, Mallery R, Chwalisz BK, Bouffard MA. Fluoroscopic guidance decreases the risk of post-lumbar puncture headache in patients with idiopathic intracranial hypertension. Neurol Sci. 2026;47:92.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":"46 2","pages":"285-289"},"PeriodicalIF":2.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147941783","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":"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":"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":"176-182"},"PeriodicalIF":2.1,"publicationDate":"2026-06-01","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":"The Glymphatic System in Idiopathic Intracranial Hypertension.","authors":"Marc A Bouffard, Jeremy N Ford, Olivia Grech","doi":"10.1097/WNO.0000000000002483","DOIUrl":"10.1097/WNO.0000000000002483","url":null,"abstract":"<p><strong>Background: </strong>Despite advances in clarifying hormonal and metabolic factors relevant to the pathophysiology of idiopathic intracranial hypertension (IIH), its mechanism remains incompletely defined. Recognition of the glymphatic system in 2012 fostered several hypotheses regarding roles it might play in IIH. This State-of-the-Art Review describes the glymphatic system's anatomy and physiology, factors relevant both to the glymphatic system and IIH, methods of obtaining experimental evidence, and how the existing evidence has tested and shaped hypotheses relating glymphatic transit and IIH.</p><p><strong>Evidence acquisition: </strong>A literature search was conducted on December 10, 2025, to identify publications related to the glymphatic system in IIH, using PubMed, Embase, Web of Science, and the Cochrane Library. Snowballing and reverse snowballing were used to identify additional references relevant to explicitly stated links between the glymphatic system and IIH. References were screened using Covidence by 2 independent reviewers.</p><p><strong>Results: </strong>One hundred thirty-six records were identified; 60 were duplicate, 27 were excluded in screening due to lack of applicability. Among the 49 retrieved, 17 were excluded due to incorrect patient population (8), reviews without critique, expert opinion, or new hypotheses (8), or language (1). Thirty-two were included in this review.</p><p><strong>Conclusions: </strong>Three categories of hypothesis relating to glymphatic transit in IIH were identified in the literature: (1) glymphatic dysfunction causes IIH, (2) veno-glymphatic dysfunction causes IIH, and (3) glymphatic function is altered but adaptive in IIH with clinical decompensation when its fluid transit capacity is overwhelmed. While glymphatic transit seems not to be normal in IIH, recent evidence suggesting dynamic transit across the disease course without clear correlation with intracranial pressure favors a novel hypothesis: that glymphatic changes may be secondary to IIH without playing a central role in its pathogenesis. Further prospective and ideally multimodal work is required, taking into account an increasing number of potentially relevant variables which may influence glymphatic transit in IIH, including disease duration, venous sinus stenosis, and treatment status.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":"46 2","pages":"165-175"},"PeriodicalIF":2.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147941832","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":"Selective Reflexive Frontalis Paresis in a Midbrain Fascicular Oculomotor Lesion: A Clinical Correlate of M-Group Dysfunction.","authors":"Francisca Ferreira, Francisca Costa, Joana Guimarães, Ricardo Soares-Dos-Reis","doi":"10.1097/WNO.0000000000002408","DOIUrl":"10.1097/WNO.0000000000002408","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e41-e43"},"PeriodicalIF":2.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145458705","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":"Initial Macular Ganglion Cell Changes During Conversion of Leber Hereditary Optic Neuropathy.","authors":"Thomas R Hedges, David Dombrovsky, Oluchukwu Onwuka, Laurel N Vuong, Yosbelkys Martin-Paez, Carlos Mendoza-Santiesteban","doi":"10.1097/WNO.0000000000002384","DOIUrl":"10.1097/WNO.0000000000002384","url":null,"abstract":"<p><strong>Background: </strong>We investigated the initial macular ganglion cell complex (GCC) changes in a group of patients during the conversion from normal vision to visual loss from Leber hereditary optic neuropathy (LHON).</p><p><strong>Methods: </strong>Optical coherence tomography scans from 17 eyes of 10 patients with genetically confirmed LHON obtained within 12 weeks of visual symptom onset were analyzed. The thickness of the GCC was measured in 6 macular sectors: superior nasal (SN), inferior nasal (IN), superior temporal, inferior temporal (IT), superior (SUP), and inferior (INF). Receiver operating characteristic (ROC) curves and area under the ROC curve (AUROC) analyses with DeLong comparison were used to evaluate the predictive reliability of GCC thinning in each sector.</p><p><strong>Results: </strong>Selective, nasal (perifoveal) GCC thinning was observed in most LHON eyes during the early stages, with the SN and IN sectors showing the highest AUROC values. Thinning in these sectors provided significantly greater predictive value for the presence of LHON than other sectors.</p><p><strong>Conclusions: </strong>Nasal GCC thinning is a reliable early indicator of the conversion from normal vision to visual loss in LHON as demonstrated in 10 of 17 eyes. This pattern of GCC loss provides insights into the disease mechanism and highlights the utility of OCT analysis for early diagnosis. The nasal GCC loss suggests selective vulnerability of ganglion cells serving the foveal region in LHON. Early identification of nasal GCC changes may facilitate timely intervention as gene therapy and other treatments become increasingly accessible.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"183-187"},"PeriodicalIF":2.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835378","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":"Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.","authors":"Sun-Young Oh, Joonhong Park, Jae-Hwan Choi, Jinhong Shin, Haeng-Jin Lee","doi":"10.1097/WNO.0000000000002439","DOIUrl":"10.1097/WNO.0000000000002439","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e58-e61"},"PeriodicalIF":2.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499200","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":"Fixational Microsaccades in Patients With Parkinson Disease.","authors":"Daniela G Teijelo, Andrew Hoover, Byron L Lam, Joe Xing, Emily Chen, Christy K Sheehy, Ihtsham Haq, Joseph Signorile, Jianhua Wang, Hong Jiang","doi":"10.1097/WNO.0000000000002415","DOIUrl":"10.1097/WNO.0000000000002415","url":null,"abstract":"<p><strong>Background: </strong>Fixational microsaccades (FM) encompass the involuntary, small-scale movements of the eye that occur as we attempt to fixate on a single point. These movements are crucial for maintaining a steady visual perception despite our gaze's constant, subtle changes. FM is significant because it can serve as an indicator of central nervous system disorders; for example, altered FM correlated with multiple sclerosis disability levels and disease progression. This study aims to characterize FM in patients with Parkinson disease (PD).</p><p><strong>Methods: </strong>Fourteen older adults (age 71.0 ± 7.2 years, 6 females) with PD and 17 controls (age 73.4 ± 4.4 years, 15 females) were recruited. Retinal motion traces were recorded using a tracking scanning laser ophthalmoscope (TSLO, RetiTrack, C. Light Technologies, Cambridge, MA). The number of FM, saccade amplitude, velocity, peak velocity, and frequency were measured.</p><p><strong>Results: </strong>All FM measurements were significantly different between PD and controls (P values < 0.05): the number of saccades (19.45 ± 7.40 vs 10.19 ± 6.69, P = 0.001), average amplitude (0.44 ± 0.15 vs 0.33 ± 0.10°, P = 0.027), average velocity (7.45 ± 1.44 vs 6.46 ± 0.96°/s, P = 0.037), average peak velocity (10.48 ± 2.99 vs 8.49 ± 2.03°/s, P = 0.044), and saccade frequency (1.95 ± 0.74 vs 1.07 ± 0.69 Hz, P = 0.002). Furthermore, the average amplitude strongly correlated with the Movement Disorders Society-sponsored Unified Parkinson Disease Rating Scale part III (MDS UPDRS III) motor subscale (r = 0.62, P = 0.02) and the Unified Parkinson Disease Rating Scale Hoehn and Yahr Stage (UPDRS HY Stage) (r = 0.62, P = 0.02). Similarly, average velocity and average peak velocity significantly correlated with both UPDRS III (r = 0.56, P = 0.04) and UPDRS HY Stage (r = 0.59, P = 0.03-0.04). These results indicated that PD patients had larger, more frequent, and quicker microsaccades, which were associated with disease severity.</p><p><strong>Conclusions: </strong>To our knowledge, this is the first study to characterize FM using TSLO in patients with PD. The tracking scanning laser ophthalmoscope appears to have high precision and sensitivity, offering detailed, real-time retinal imaging with minimal motion artifact. The results indicate that impaired fixational microsaccades in PD correlate with disease severity, suggesting that altered FM could serve as a biomarker for progression and treatment response.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":"46 2","pages":"213-218"},"PeriodicalIF":2.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147941803","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":"Very-Late-Onset Neuromyelitis Optica Spectrum Disorder Presenting as Isolated Optic Neuritis in an 85-Year-Old Woman: A Diagnostic and Management Challenge.","authors":"Sujin Kang, Pablo E Ravenna, Daniela G Teijelo, Byron L Lam","doi":"10.1097/WNO.0000000000002418","DOIUrl":"10.1097/WNO.0000000000002418","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e44-e45"},"PeriodicalIF":2.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13148504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145781403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adult Idiopathic Intracranial Hypertension Without Papilledema: Systematic Review of Literature and Future Perspectives.","authors":"Fernando Labella Alvarez, Gabriele Berman, Michael Lowe, Pichaya Kulniwatcharoen, Susan P Mollan","doi":"10.1097/WNO.0000000000002473","DOIUrl":"10.1097/WNO.0000000000002473","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic intracranial hypertension without papilledema (IIHWOP) remains poorly understood. This review summarizes the diagnostic challenges and potential management of adults with IIHWOP.</p><p><strong>Evidence acquisition: </strong>A detailed search of the scientific literature, combining MeSH and free-text terms, included all English-language papers on PubMed, from inception to June 8, 2025. In this review, we used the term IIHWOP to describe patients without evidence of active or previous papilledema.</p><p><strong>Results: </strong>The diagnosis of IIHWOP is based on elevated lumbar puncture opening pressure accompanied by either sixth cranial nerve palsy or neuroimaging features of intracranial hypertension, which may lack specificity. Clinical presentation frequently mimics primary headache disorders, and lumbar puncture remains an invasive procedure without clear management implications in IIHWOP, as there are no high-quality studies evaluating medical or surgical therapies.</p><p><strong>Conclusions: </strong>Recommendations for investigation and clinical care remain largely inferred from idiopathic intracranial hypertension. Given the absence of evidence for risk of vision loss, invasive procedures should be avoided, and management should focus on weight loss and optimized headache management.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":"46 2","pages":"149-164"},"PeriodicalIF":2.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147941819","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}