Alexandre Dentel, Mohammed B Madani, Matthieu P Robert, Sophie Valleix, Dominique Brémond-Gignac, Alejandra Daruich
{"title":"Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia.","authors":"Alexandre Dentel, Mohammed B Madani, Matthieu P Robert, Sophie Valleix, Dominique Brémond-Gignac, Alejandra Daruich","doi":"10.1097/WNO.0000000000002083","DOIUrl":"10.1097/WNO.0000000000002083","url":null,"abstract":"<p><strong>Background: </strong>This study aims to characterize optic disc hypoplasia in congenital aniridia using ultra-wide-field imaging (UWFI) and nonmydriatic retinal photography (NMRP). We also investigated the relation between optic disc hypoplasia and foveal hypoplasia.</p><p><strong>Methods: </strong>This is a retrospective case series of patients diagnosed with PAX6 -related aniridia in a National Referral Center, who underwent UWFI, NMRP, and spectral-domain optical coherence tomography (SD-OCT) . The disc diameter (DD) and the disc-to-fovea distance (DF) were measured. The DD:DF ratio was used to assess the relative size of the optic disc. The analyses were carried with respect to paired age- and sex-matched healthy controls. SD-OCT was used for foveal hypoplasia grading (from 1 to 4) and retinal nerve fiber layer (RNFL) analysis.</p><p><strong>Results: </strong>Mean manual DD:DF ratio was 0.33 (95% CI: 0.31-0.35) in aniridia patients versus 0.37 (95% CI: 0.36-0.39) in control patients (n = 20, P = 0.005) measured on NMRP and 0.32 (95% CI: 0.30-0.35) in aniridia patients versus 0.37 (95% CI: 0.37-0.39) in control patients (n = 26, P < 0.0001) when assessed on UWFI. Mean semiautomated DD:DF ratio measured on UWFI in aniridia patients was 0.31 (95% CI: 0.29-0.33) versus 0.37 (95% CI: 0.36-0.38) in control patients ( P < 0.0001). Also, a negative correlation was found significant between the grade of foveal hypoplasia and the mean semiautomated DD:DF ratio (r = -0.52, 95% CI: -0.76 to -0.15, P = 0.0067). Finally, a significant negative correlation was found between the peripapillary temporal RNFL thickness and the grade of foveal hypoplasia ( P = 0.0034).</p><p><strong>Conclusions: </strong>The DD:DF ratio is significantly reduced in PAX6 -related aniridia patients and correlates with the severity of foveal hypoplasia. This ratio is a valuable tool for optic disc hypoplasia assessment in congenital aniridia, especially when provided semiautomatically by UWFI.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"540-544"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139478456","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}
Margarida Queirós Dias, Miguel Raimundo, Pedro Fonseca
{"title":"Horner Syndrome After Central Venous Catheterization.","authors":"Margarida Queirós Dias, Miguel Raimundo, Pedro Fonseca","doi":"10.1097/WNO.0000000000002087","DOIUrl":"10.1097/WNO.0000000000002087","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e508-e509"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139541949","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: Retinal Thickness in Essential Tremor and Early Parkinson Disease: Exploring Diagnostic Insights.","authors":"Kemal Örnek, Nurgül Örnek","doi":"10.1097/WNO.0000000000002122","DOIUrl":"10.1097/WNO.0000000000002122","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e531-e532"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140101797","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":"How Advancements in AI Can Help Improve Neuro-Ophthalmologic Diagnostic Clarity.","authors":"Rachel C Kenney, Kimberly A O'Neill","doi":"10.1097/WNO.0000000000002283","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002283","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":"44 4","pages":"449-453"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978913","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":"Unilateral Optic Neuropathy Resulting From Methanol Poisoning.","authors":"Hari R Anandarajah, Ryan D Walsh","doi":"10.1097/WNO.0000000000001986","DOIUrl":"10.1097/WNO.0000000000001986","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e549-e550"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10061050","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: What Is the Best Surgical Intervention for Idiopathic Intracranial Hypertension.","authors":"Andrew G Lee, Gregory P Van Stavern","doi":"10.1097/WNO.0000000000002034","DOIUrl":"10.1097/WNO.0000000000002034","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"3527"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71424288","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}
Luciano M Simao, Ava Cristina V de Almeida, Marcos Tulio S A Viana, Marcela A M Vanazzi, Thais N Andrade, Ana Flávia A O Oliveira, Monise Q Hermes, Denise B A Mendanha
{"title":"The Patient's Clinical Profile From a Neuro-Ophthalmology Center in Brazil: A Retrospective Study.","authors":"Luciano M Simao, Ava Cristina V de Almeida, Marcos Tulio S A Viana, Marcela A M Vanazzi, Thais N Andrade, Ana Flávia A O Oliveira, Monise Q Hermes, Denise B A Mendanha","doi":"10.1097/WNO.0000000000002057","DOIUrl":"10.1097/WNO.0000000000002057","url":null,"abstract":"<p><strong>Background: </strong>Neuro-ophthalmology (NO) is a subspeciality of Ophthalmology, which represents more than an intersection of Neurology and Ophthalmology. The present report highlights the increasing importance of the subspeciality in Brazil and provides a unique retrospective study of the patient's clinical profile of a NO reference center.</p><p><strong>Methods: </strong>Our study was retrospectively planned aiming to identify all neuro-ophthalmic cases of Instituto de Olhos of the Medical School Faculdade Ciências Médicas de Minas Gerais from August 2013 to March 2022.The first clinical diagnostic impression was selected from a predetermined list of 18 neuro-ophthalmologic conditions. Some NO conditions were eventually reclassified during the follow-up as the final clinical diagnosis impression. The concordance between the first and final clinical impressions was also investigated, as well as the patient's referral source.</p><p><strong>Results: </strong>The sample comprised 903 patients from which 56.4% were female. The mean age was 51.48 ± 20.93 years. Males were more frequent in lower age groups <1 year (n = 3, 100%) and 1-9 years (n = 19/37, 51.4%). An external referral source represented 23.1%, and patients referred after basic ophthalmic consultation and from glaucoma service were 30.3% and 23.2%, respectively. The most encountered first clinical diagnostic impressions were isolated optic atrophy (13.1%), non-neuro-ophthalmic disease (11.7%), optic disc abnormalities (10.4%), ischemic optic neuropathies/retinal vascular occlusions (10.2%), and other visual field defects (9.0%). The kappa concordance coefficient among the first and final clinical diagnostic impressions was 0.53 (95% CI 0.48-0.59), indicating a moderate concordance level. The concordance among the most frequent diagnoses was lower in isolated optic atrophy (33%), other visual field defects (41%), and idiopathic optic neuritis (40%).</p><p><strong>Conclusions: </strong>Due to the limited number of epidemiology studies in neuro-ophthalmology, we highlight the importance of a NO service in the public health system in Brazil. It may certainly contribute to better strategy plan assistance among professionals and health care managers. This report should seemingly stimulate other studies regarding the relevant and unique features of this subspeciality, which is undoubtedly increasing its importance among patients, and in the scientific community worldwide.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e520-e525"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138802831","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: Isolated Sixth Nerve Palsy and COVID-19.","authors":"Grace Baldwin, Eric D Gaier, Lauren Hennein","doi":"10.1097/WNO.0000000000002128","DOIUrl":"10.1097/WNO.0000000000002128","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e536"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140065270","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: Visual Recovery in 2 Cases of Central Retinal Artery Occlusion Treated With Prompt Intraophthalmic Artery Fibrinolysis.","authors":"Cecilia C Canizela, Kamal Kishore","doi":"10.1097/WNO.0000000000002097","DOIUrl":"10.1097/WNO.0000000000002097","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e529-e530"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139691971","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}
Blake D Colman, Eliot D Smolyansky, Hemant A Parmar, Pratheepan Puvanakumar, Rogan G Fraser, Prashanth Ramachandran, Shivanand Sheth, Neil Shuey, Subahari Raviskanthan
{"title":"Orbital Inflammatory Manifestations in a Patient With VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) Syndrome.","authors":"Blake D Colman, Eliot D Smolyansky, Hemant A Parmar, Pratheepan Puvanakumar, Rogan G Fraser, Prashanth Ramachandran, Shivanand Sheth, Neil Shuey, Subahari Raviskanthan","doi":"10.1097/WNO.0000000000002270","DOIUrl":"10.1097/WNO.0000000000002270","url":null,"abstract":"<p><strong>Abstract: </strong>An 84-year-old man with a genetically confirmed diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome treated with tocilizumab reported with a 3-day history of left eye pain, conjunctival chemosis and injection, and horizontal binocular diplopia. Examination revealed restriction of left eye ductions in all directions with mild unilateral proptosis. MRI of his brain and orbits demonstrated abnormal enhancement of the left posterior sclera and intraorbital optic nerve sheath, without involvement of the extraocular muscles, cavernous sinus, or optic nerve parenchyma. B-scan ultrasonography heralded a positive \"T-sign.\" Empiric treatment with high-dose intravenous methylprednisolone led to rapid clinical improvement. Workup for alternative causes was unremarkable. Oral prednisone dose and tocilizumab ultimately resulted in complete resolution after 4 weeks. The final diagnosis was consistent with orbital inflammatory manifestations of VEXAS syndrome.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729204","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}