Pub Date : 2024-12-01Epub Date: 2024-06-27DOI: 10.1097/WNO.0000000000002207
Mark M Magharious, Melike Pekmezci, Mark D Mamlouk, Jonathan C Horton, Marc H Levin
Abstract: 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.
{"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}
Pub Date : 2024-12-01Epub Date: 2023-07-07DOI: 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}
Pub Date : 2024-12-01Epub Date: 2023-08-18DOI: 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}
Pub Date : 2024-12-01Epub Date: 2023-11-03DOI: 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}
Pub Date : 2024-12-01Epub Date: 2023-12-20DOI: 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}
Pub Date : 2024-12-01Epub Date: 2024-01-25DOI: 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
Background: 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.
Methods: 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.
Results: 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.
Conclusions: 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.
{"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}
Pub Date : 2024-12-01Epub Date: 2023-11-17DOI: 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}
Pub Date : 2024-12-01Epub Date: 2023-11-27DOI: 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}
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