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Journal of Neuro-Ophthalmology最新文献

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Revised Diagnosis From Histiocytic Neoplasm to Optic Chiasm Glioblastoma After Genetic Analysis. 经过基因分析，从组织细胞瘤到视丘胶质母细胞瘤的诊断得到修正。
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2024-06-27 DOI: 10.1097/WNO.0000000000002207
Mark M Magharious, Melike Pekmezci, Mark D Mamlouk, Jonathan C Horton, Marc H Levin
{"title":"Revised Diagnosis From Histiocytic Neoplasm to Optic Chiasm Glioblastoma After Genetic Analysis.","authors":"Mark M Magharious, Melike Pekmezci, Mark D Mamlouk, Jonathan C Horton, Marc H Levin","doi":"10.1097/WNO.0000000000002207","DOIUrl":"10.1097/WNO.0000000000002207","url":null,"abstract":"<p><strong>Abstract: </strong>A 46-year-old man presented with left eye blurring. Automated visual field testing showed an incongruous right hemianopia, with sparing of the lower temporal quadrant in the right eye. MRI revealed foci of gadolinium enhancement in the optic chiasm and optic tracts. Serologic testing (including myelin oligodendrocyte glycoprotein and neuromyelitis optica antibodies) and cerebrospinal fluid analysis were negative. Whole-body PET/CT scan found no malignancy. Biopsy of the optic chiasm revealed a moderately cellular neoplasm composed of atypical, discohesive cells with enlarged nuclei, prominent eosinophilic nucleoli, and abundant vacuolated cytoplasm. Immunohistochemical stains for CD68 and S100 were positive, whereas those for GFAP, OLIG2, SOX10, and multiple others were negative, supporting a diagnosis of histiocytic neoplasm. Five weeks later, results became available from next-generation sequencing targeting the coding regions of hundreds of malignancy-associated genes and select introns. Alterations associated with histiocytic neoplasms (i.e. BRAF and MAP2K1 mutations) were absent. However, there was a nonsense mutation in the PTEN gene, a hotspot mutation in the TERT gene promotor, and focal amplifications of the CDK4 and MDM2 genes. Additionally, there was chromosome 6q loss, 7 gain, and 10q loss. Based on these findings, the diagnosis was revised to glioblastoma, IDH-wildtype, CNS WHO grade 4. The patient began treatment with temozolomide while continuing radiation therapy. This case illustrates how next-generation sequencing can at times provide more accurate diagnostic information than standard tissue histopathology.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"582-586"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141457477","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}
引用次数: 0
Papilledema as the Presenting Sign of Pineal Ganglioglioma. 乳突水肿是松果节神经胶质瘤的表现。
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2023-07-07 DOI: 10.1097/WNO.0000000000001931
Sami W Younes, Chaow Charoenkijkajorn, Mohammad Pakravan, Peter W Mortensen, Andreana L Rivera, Gavin W Britz, Marcus S Wong, Andrew G Lee
{"title":"Papilledema as the Presenting Sign of Pineal Ganglioglioma.","authors":"Sami W Younes, Chaow Charoenkijkajorn, Mohammad Pakravan, Peter W Mortensen, Andreana L Rivera, Gavin W Britz, Marcus S Wong, Andrew G Lee","doi":"10.1097/WNO.0000000000001931","DOIUrl":"10.1097/WNO.0000000000001931","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e539-e541"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10119586","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}
引用次数: 0
The Effect of Extraocular Muscle Surgery on Oculopalatal Tremor (Myoclonus). 眼外肌手术治疗眼腭震颤（肌阵挛）的效果。
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2023-08-18 DOI: 10.1097/WNO.0000000000001987
Hye Jun Joo, Jae Ho Jung
{"title":"The Effect of Extraocular Muscle Surgery on Oculopalatal Tremor (Myoclonus).","authors":"Hye Jun Joo, Jae Ho Jung","doi":"10.1097/WNO.0000000000001987","DOIUrl":"10.1097/WNO.0000000000001987","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e551-e553"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10400896","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}
引用次数: 0
Bilateral Enhancement of Oculomotor Nerves: A Sign of Miller Fisher Syndrome. 双侧眼球运动神经增强：Miller Fisher综合征的一个体征。
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2023-11-03 DOI: 10.1097/WNO.0000000000002043
Anas L Yasin, Paul J Rychwalski, Mohamed M Khodeiry, Samiksha Fouzdar Jain
{"title":"Bilateral Enhancement of Oculomotor Nerves: A Sign of Miller Fisher Syndrome.","authors":"Anas L Yasin, Paul J Rychwalski, Mohamed M Khodeiry, Samiksha Fouzdar Jain","doi":"10.1097/WNO.0000000000002043","DOIUrl":"10.1097/WNO.0000000000002043","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e588-e589"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71482566","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}
引用次数: 0
Retrobulbar Optic Neuropathy and Multifocal Cotton Wool Spots Secondary to Tuberculosis After International Travel. 国际旅行后继发于结核病的视网膜后视神经病和多灶性棉絮斑。
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2023-12-20 DOI: 10.1097/WNO.0000000000002056
Akash T Maheshwari, Mona M Hussein, Noor A Laylani, Pamela Davila A Siliezar, Muqdad A Kbah, Andrew G Lee
{"title":"Retrobulbar Optic Neuropathy and Multifocal Cotton Wool Spots Secondary to Tuberculosis After International Travel.","authors":"Akash T Maheshwari, Mona M Hussein, Noor A Laylani, Pamela Davila A Siliezar, Muqdad A Kbah, Andrew G Lee","doi":"10.1097/WNO.0000000000002056","DOIUrl":"10.1097/WNO.0000000000002056","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e592-e594"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138830110","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}
引用次数: 0
Optic Disc Edema Is an Under-Recognized Feature of Birdshot Chorioretinitis. 视盘水肿是鸟枪状脉络膜视网膜炎的一个未被充分认识的特征。
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2024-01-25 DOI: 10.1097/WNO.0000000000002085
Sharon Sabapathypillai, Victoria J Miller, Akbar Shakoor, Alan G Palestine, Jennifer E Thorne, Debra A Goldstein, Paul A Gaudio, Naomi Goldberg, Albert Vitale, Ariel Schlaen, Akshay Thomas, Pauline T Merrill, Veena Raiji, Phoebe Lin, Armando L Oliver, Ramana S Moorthy, Gaurav Chandra, Ester Carreno, Wendy M Smith, Gregory Van Stavern, Lynn M Hassman
{"title":"Optic Disc Edema Is an Under-Recognized Feature of Birdshot Chorioretinitis.","authors":"Sharon Sabapathypillai, Victoria J Miller, Akbar Shakoor, Alan G Palestine, Jennifer E Thorne, Debra A Goldstein, Paul A Gaudio, Naomi Goldberg, Albert Vitale, Ariel Schlaen, Akshay Thomas, Pauline T Merrill, Veena Raiji, Phoebe Lin, Armando L Oliver, Ramana S Moorthy, Gaurav Chandra, Ester Carreno, Wendy M Smith, Gregory Van Stavern, Lynn M Hassman","doi":"10.1097/WNO.0000000000002085","DOIUrl":"10.1097/WNO.0000000000002085","url":null,"abstract":"<p><strong>Background: </strong>Optic disc edema is a feature of many ophthalmic and neurologic conditions. It remains an underappreciated feature of birdshot chorioretinitis (BSCR), leading to delay in diagnosis and treatment. The purpose of our study was to identify clinical features that are concomitant with optic disc edema and suggest a diagnosis of BSCR.</p><p><strong>Methods: </strong>Retrospective multicenter case series of 29 patients who were referred to a neuro-ophthalmologist or uveitis specialist for evaluation of disc edema and were ultimately diagnosed with BSCR.</p><p><strong>Results: </strong>Fifty-four eyes of 30 patients, from the practices of 15 uveitis specialists, met the eligibility criteria. In addition to disc edema, concomitant features in all patients included vitritis, chorioretinal lesions, and retinal vasculitis. Visual recovery to 20/40 or better occurred in 26 of 29 patients. Visual acuity remained 20/100 or worse in 2 patients previously diagnosed with idiopathic intracranial hypertension, 1 patient previously diagnosed with optic neuritis, and 1 patient for whom treatment was delayed for years, leading to optic disc atrophy.</p><p><strong>Conclusions: </strong>Optic disc edema is a presenting feature in some cases of BSCR. A diagnosis of BSCR should be considered when disc edema occurs with vitritis, chorioretinal inflammation, and retinal vasculitis. Patients should be referred to a uveitis specialist for treatment.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"545-551"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11567670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139564297","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}
引用次数: 0
Sequential Optic Neuritis hic…hic…hic…. 顺序性视神经炎 hic...hic...hic....
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2024-07-02 DOI: 10.1097/WNO.0000000000002216
Daisy Liu, Imran Jivraj
{"title":"Sequential Optic Neuritis hic…hic…hic….","authors":"Daisy Liu, Imran Jivraj","doi":"10.1097/WNO.0000000000002216","DOIUrl":"10.1097/WNO.0000000000002216","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e526"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476816","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}
引用次数: 0
GQ1b Seropositive Guillain-Barré/Miller Fisher Overlap Syndrome After Pembrolizumab Treatment. Pembrolizumab治疗后GQ1b血清阳性格林-巴罗/米勒-费雪重叠综合征
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2023-08-14 DOI: 10.1097/WNO.0000000000001976
Patrick J Hunt, Phillip H Keys, Sujata Dalal, Dale Boardman, Pamela Davila-Siliezar, Noor Laylani, Nagham Al-Zubidi, Andrew G Lee
{"title":"GQ1b Seropositive Guillain-Barré/Miller Fisher Overlap Syndrome After Pembrolizumab Treatment.","authors":"Patrick J Hunt, Phillip H Keys, Sujata Dalal, Dale Boardman, Pamela Davila-Siliezar, Noor Laylani, Nagham Al-Zubidi, Andrew G Lee","doi":"10.1097/WNO.0000000000001976","DOIUrl":"10.1097/WNO.0000000000001976","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e542-e543"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10008752","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}
引用次数: 0
COVID-19 Disease: A Trigger for Leber Hereditary Optic Neuropathy (LHON). COVID-19疾病:Leber遗传性视神经病变(LHON)的触发因素。
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2023-11-17 DOI: 10.1097/WNO.0000000000002037
Sol Benbunan-Ferreiro, María Calabuig Goena, Hortesia Sánchez-Tocino
{"title":"COVID-19 Disease: A Trigger for Leber Hereditary Optic Neuropathy (LHON).","authors":"Sol Benbunan-Ferreiro, María Calabuig Goena, Hortesia Sánchez-Tocino","doi":"10.1097/WNO.0000000000002037","DOIUrl":"10.1097/WNO.0000000000002037","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e528"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136397760","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}
引用次数: 0
Clinically Aggressive Low-Grade Optic Nerve Glioma in an Adult Treated With Selumetinib. 用塞鲁美替尼治疗成人临床侵袭性低级别视神经胶质瘤。
IF 2 4区 医学
Journal of Neuro-Ophthalmology Pub Date : 2024-12-01 Epub Date: 2023-11-27 DOI: 10.1097/WNO.0000000000002023
Alexis S Kassotis, Maria D L Garcia, Yu Sun, Joyce N Mbekeani, Michael Kazim
{"title":"Clinically Aggressive Low-Grade Optic Nerve Glioma in an Adult Treated With Selumetinib.","authors":"Alexis S Kassotis, Maria D L Garcia, Yu Sun, Joyce N Mbekeani, Michael Kazim","doi":"10.1097/WNO.0000000000002023","DOIUrl":"10.1097/WNO.0000000000002023","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e575-e577"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138451620","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}
引用次数: 0
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