Neuro-Ophthalmology最新文献

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Significant Visual Field Defects Persist Despite Excellent Visual Acuity Following Optic Neuritis in Myelin-Oligodendrocyte Glycoprotein Associated Disease. 髓鞘-少突胶质细胞糖蛋白相关疾病视神经炎后,尽管视力良好,但仍存在明显的视野缺损。
IF 0.8
Neuro-Ophthalmology Pub Date : 2025-08-22 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2544335
Saif Huda, Aviv Fineberg, Chiara Rocchi, Omer Bialer, Ainat Klein, Hadas Stiebel-Kalish
{"title":"Significant Visual Field Defects Persist Despite Excellent Visual Acuity Following Optic Neuritis in Myelin-Oligodendrocyte Glycoprotein Associated Disease.","authors":"Saif Huda, Aviv Fineberg, Chiara Rocchi, Omer Bialer, Ainat Klein, Hadas Stiebel-Kalish","doi":"10.1080/01658107.2025.2544335","DOIUrl":"10.1080/01658107.2025.2544335","url":null,"abstract":"<p><p>Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune demyelinating disorder. In adults, optic neuritis (ON) is the most common clinical manifestation. MOGAD-ON can severely affect visual acuity (VA) and cause visual field (VF) deficits. VA typically improves rapidly with treatment, but little is known about VFs at follow-up. To address this, we analyzed VFs in MOG-ON patients. We conducted a multicentre international retrospective review of MOGAD-ON patients. VFs were obtained at presentation and follow-up at least 3 months later and before the next relapse. VF severity was based on the mean deviation (MD) measurements graded as mild, moderate, or severe. Specific VF deficit patterns and shapes were assessed by a single-blinded neuro-ophthalmologist (as per Optic-Neuritis-Treatment-Trial Group). Time to treatment was also assessed. Thirty-nine eyes of 28 patients were included (mean age 39.68 ± 12.9 years, 13 males). The average MD nadir from all 39 affected eyes was -14.18 (±9.8 dB) and -3.02 (±3.2 dB) at follow-up. At follow-up, 46% of the eyes developed permanent VF deficits with an MD below -2 dB. (41% with a recognizable VF deficit pattern) despite recovery to an average VA of 6/6. In contrast to visual acuity, visual fields showed poorer recovery with persistent deficits in MOGAD patients with optic neuritis despite treatment. An altitudinal VF defect in a patient with prior acute optic neuropathy with disc edema should not preclude the consideration of MGOAD as the diagnosis.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"37-44"},"PeriodicalIF":0.8,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119779","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}
引用次数: 0
Leber's Hereditary Optic Neuropathy from a Rare Variant, m.3700 G > A, in the MT-ND1 Gene in a Family. 一个家族MT-ND1基因的罕见变异m.3700 G >a导致的Leber遗传性视神经病变
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-08-20 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2547404
Hüseyin Nezih Özdemir, Rana Özerol, Asude Durmaz, Ayça Aykut, Neşe Çelebisoy
{"title":"Leber's Hereditary Optic Neuropathy from a Rare Variant, m.3700 G > A, in the MT-ND1 Gene in a Family.","authors":"Hüseyin Nezih Özdemir, Rana Özerol, Asude Durmaz, Ayça Aykut, Neşe Çelebisoy","doi":"10.1080/01658107.2025.2547404","DOIUrl":"10.1080/01658107.2025.2547404","url":null,"abstract":"","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 4","pages":"378-380"},"PeriodicalIF":0.6,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352527","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}
引用次数: 0
UCHL1-Related Dominant Optic Atrophy: Report of Two New Families. 与uchl1相关的显性视萎缩:两个新家族的报道。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-08-20 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2548315
Natalie S Lee, John R Grigg, Zornitza Stark, Kate Ahmad
{"title":"UCHL1-Related Dominant Optic Atrophy: Report of Two New Families.","authors":"Natalie S Lee, John R Grigg, Zornitza Stark, Kate Ahmad","doi":"10.1080/01658107.2025.2548315","DOIUrl":"10.1080/01658107.2025.2548315","url":null,"abstract":"<p><p>Previously, biallelic variants in ubiquitin carboxy-terminal hydrolase L1 (UCHL1) have been associated with spastic paraplegia type 79, an autosomal recessive early-onset neurodegenerative disorder. Recently, heterozygous variants in UCHL1 have been associated with a neurological syndrome with various combinations of optic atrophy, spasticity, ataxia and neuropathy. We present two independent families presenting with multigenerational optic atrophy. The proband of family A presented in her 60s with worsening gait imbalance and optic atrophy. The proband of family B presented in his 40s with worsening vision and difficulty with tandem gait. Initial genomic testing in both probands did not reveal a diagnosis. Later reanalysis of the existing genomic data, after heterozygous UCHL1 variants were described as causing disease, showed both probands harboured pathogenic variants in UCHL1 which accounted for their phenotype. Heterozygous variants in UCHL1 cause an autosomal dominant neurological syndrome with variable optic atrophy, spastic ataxia and neuropathy. Clinicians should carefully assess the optic nerves in individuals presenting with ataxia and spasticity, as optic atrophy can be asymptomatic and under-reported, yet important in formulating a differential diagnosis and directing genomic testing. In individuals remaining without a molecular diagnosis, it is important to regularly revisit genomic data as a genetic diagnosis may be identified on reanalysis.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 4","pages":"381-386"},"PeriodicalIF":0.6,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352623","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}
引用次数: 0
Visual Outcomes and Retinal Nerve Fiber Layer Changes Following Methanol Induced Optic Neuropathy: A Covid-19 Era Experience. 甲醇诱导视神经病变后的视觉结果和视网膜神经纤维层变化:新冠肺炎时代的经验
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-08-14 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2544336
Mohammad Shirvani, Mohammad Mohammadi, Mohammadreza Khalili, Zahra Emadi, Hamed Ghoshouni, Mohsen Gohari, Amirmohammad Fathian, Alireza Attar
{"title":"Visual Outcomes and Retinal Nerve Fiber Layer Changes Following Methanol Induced Optic Neuropathy: A Covid-19 Era Experience.","authors":"Mohammad Shirvani, Mohammad Mohammadi, Mohammadreza Khalili, Zahra Emadi, Hamed Ghoshouni, Mohsen Gohari, Amirmohammad Fathian, Alireza Attar","doi":"10.1080/01658107.2025.2544336","DOIUrl":"10.1080/01658107.2025.2544336","url":null,"abstract":"<p><p>Methanol-induced optic neuropathy (MON) is a serious and potentially blinding condition with significant public health concerns. Despite advancements in treatment, predicting long-term visual outcomes of MON remain challenging. The current study aimed to assess the potential association between arterial blood gas parameters and long-term changes of retinal nerve fiber layer (RNFL) in survivors of acute methanol poisoning. This prospective study was conducted on patients hospitalized with diagnosis of acute methanol poisoning at Ali Asghar Hospital, Shiraz, Iran, between 27 June 2020 and 12 August 2021 in COVID-19 era. The treatment included acid-base correction, hemodialysis, ethanol administration, erythropoietin, corticosteroids, and vitamin supplementation. Clinical and laboratory as well as comprehensive ophthalmologic examinations and high-definition optical coherence tomography (OCT) were performed at admission and after a 12-month follow-up to evaluate RNFL thickness and visual acuity (VA) alternations. A total of 61 patients (mean age: 30.08 ± 5.20 years; 91.8% male) with methanol poisoning were included in the study. Optic disc swelling was noted in 29 patients (47.54%), while 32 (52.46%) had normal optic discs. Most patients presented on Day 2 (34.43%) and Day 1 (32.79%) post-poisoning. Arterial blood gas analysis revealed a median pH of 7.0 (IQR: 6.85-7.28), bicarbonate levels of 17.0 mmol/L (IQR: 13.0-23.0), and an anion gap of 12.0 mmol/L (IQR: 9.0-15.0). Initially, 67.2% of patients had a VA ≥ 5/10, increasing to 87.7% after one year, with none of the patients having VA worse than 1/10 at follow-up. The VA improvement was observed during the follow-up in both eyes (<i>p</i> < .001). Also, significant RNFL thinning was observed across superior, nasal, inferior, and temporal quadrants (<i>p</i> < .001). Lower arterial pH, decreased bicarbonate levels, and higher anion gap were significantly associated with RNFL thinning and worse visual outcomes (<i>p</i> < .001). This study revealed the crucial role of arterial pH, bicarbonate levels, and anion gap in predicting long-term visual impairment in patients with MON. Early erythropoietin and corticosteroids therapy showed promising neuroprotective effects, supporting their use in improving visual outcomes. OCT remains an essential tool for monitoring optic nerve damages in patients with MON.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"45-55"},"PeriodicalIF":0.6,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867453/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118479","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}
引用次数: 0
Reliable and Accurate Differentiation of Optic Perineuritis and Optic Nerve Sheath Meningioma from the Radiologists' Perspective. 视神经会阴炎与视神经鞘脑膜瘤的可靠准确鉴别。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-08-14 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2542229
Onur Tuncer, Adam Baim, Michael Lee, Mehmet Gencturk, Can Özütemiz
{"title":"Reliable and Accurate Differentiation of Optic Perineuritis and Optic Nerve Sheath Meningioma from the Radiologists' Perspective.","authors":"Onur Tuncer, Adam Baim, Michael Lee, Mehmet Gencturk, Can Özütemiz","doi":"10.1080/01658107.2025.2542229","DOIUrl":"10.1080/01658107.2025.2542229","url":null,"abstract":"<p><p>Optic perineuritis (OPN) and optic nerve sheath meningioma (ONSM) can present overlapping clinical and MRI findings. We aim to identify reliable MRI features to accurately differentiate between the two, ensuring timely optimal management. Patients diagnosed with OPN or ONSM were retrospectively selected. Two board-certified neuroradiologists independently reviewed contrast-enhanced, fat-saturated T1-weighted orbital MRI. Masked to patient information, they assessed nerve sheath contrast enhancement across optic nerve segments, quadrants, and intraconal fat, and measured maximum enhancing thickness (MET) and maximum enhancing length (MEL). Subsequently, they provided diagnoses based on their expertise. In a second run, controls were included, and they were allowed to see MRI order notes. Inter-rater agreements and diagnostic performances were calculated. We studied 35 patients with 41 pathological orbits. OPN had more bilateral involvement (<i>p</i> = .012). Only MET reached the desired agreement (ICC = .902). Mean MET was 1 mm for OPN and 5.34 mm for ONSM (<i>p</i> < .001). AUC was 0.823 with optimal threshold of 1.38 mm, giving 75% sensitivity, 73.8% specificity, and 74.3% accuracy. In the first evaluation, neuroradiologists demonstrated sensitivities of 56.3% and 62.5%, specificities of 78.9%, accuracies of 68.6% and 71.4%. In the second evaluation, first neuroradiologist accurately identified 50% of ONSM and 80% of OPN cases. Second neuroradiologist identified 100% of ONSM and 50% of OPN. Both neuroradiologists identified all controls. Neuroradiologists struggled to distinguish OPN from ONSM. MET is reliable, accurate, and useful for differentiating them alongside clinical features.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"30-36"},"PeriodicalIF":0.6,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119803","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}
引用次数: 0
The Retina as a Biomarker for Parkinson's Disease: A Systematic Review. 视网膜作为帕金森病的生物标志物:一项系统综述。
IF 0.8
Neuro-Ophthalmology Pub Date : 2025-08-14 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2547216
Sze Wai Rosa Li, Abigail Gardner, Marcela Votruba
{"title":"The Retina as a Biomarker for Parkinson's Disease: A Systematic Review.","authors":"Sze Wai Rosa Li, Abigail Gardner, Marcela Votruba","doi":"10.1080/01658107.2025.2547216","DOIUrl":"10.1080/01658107.2025.2547216","url":null,"abstract":"<p><p>Parkinson's disease is the second most common neurodegenerative condition in the world. Due to the absence of a single definitive diagnostic test, there has been increasing emphasis on identifying reliable biomarkers. This systematic review investigates the potential use of the retina as a biomarker for Parkinson's disease, with a focus on its utility for diagnosis, early detection, or monitoring disease progression. We conducted a comprehensive search using systematic review methodology and tools across multiple databases (PubMed, Embase via OVID and Cochrane), limiting publications to the last five years, in the English language, and to human studies. Of the 13 studies submitted to critical appraisal after systematic filtering, 11 used optical coherence tomography (OCT), 4 used optical coherence tomography angiography (OCT-A), 3 used contrast sensitivity, 7 used best corrected visual acuity (BCVA), 2 used electroretinography (ERG), and 2 visually evoked potential (VEP) to compare between Parkinson's disease patients and healthy controls. The results varied across different techniques, with OCT and OCT-A showing inconsistent statistical significance in multiple studies. Contrast sensitivity demonstrated statistical significance, while BCVA showed no significant difference. ERG and VEP each exhibited some degree of statistical significance. Among the techniques, contrast sensitivity, ERG, VEP, and vessel density (measured with OCT-A) showed the most consistent statistical significance as potential biomarkers. These findings provide early evidence supporting the retina's potential as a biomarker for Parkinson's disease.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"1-12"},"PeriodicalIF":0.8,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119834","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}
引用次数: 0
The Efficacy and Safety of Prostaglandin E1 in the Management of Ischemic Retinal and Optic Nerve Diseases: A Systematic Review. 前列腺素E1治疗缺血性视网膜和视神经疾病的疗效和安全性:系统综述。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-08-07 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2544329
Hashem Abu Serhan, Ahmed Oweidah, Abdulla Shaheen, Laith O Emoush, Abdullah Bin Mahmoud, Fatma Kassem Mohamed, Usman Naeem, Sara Irshaidat, Ayman G Elnahry
{"title":"The Efficacy and Safety of Prostaglandin E1 in the Management of Ischemic Retinal and Optic Nerve Diseases: A Systematic Review.","authors":"Hashem Abu Serhan, Ahmed Oweidah, Abdulla Shaheen, Laith O Emoush, Abdullah Bin Mahmoud, Fatma Kassem Mohamed, Usman Naeem, Sara Irshaidat, Ayman G Elnahry","doi":"10.1080/01658107.2025.2544329","DOIUrl":"10.1080/01658107.2025.2544329","url":null,"abstract":"<p><p>To evaluate the efficacy and safety of intravenous prostaglandin E1 (PGE1) for the management of ischemic retinal and optic nerve diseases. Our protocol was registered prospectively on PROSPERO (CRD42024524166). We searched 4 electronic databases [PubMed, Scopus, Web of Science, and Google Scholar] to retrieve all studies reported using PGE1 for patients with including CRAO, BRAO, A-AION, A-PION, ischemia in high myopia, NA-PION, and PAMM. We conducted a Wilcoxon signed-rank test to assess the effect of PGE1 on the visual acuity (VA) of included subjects. VA change was utilized to assess the degree of VA improvement. We assessed the quality of the included studies using the JBI tool. We included a total of 12 studies with a total of 30 cases. Age ranged from 40 to 97years with a mean of 66.77years for 15 females and 15 males. The most presented disease was CRAO (60%), followed by BRAO (10%), ischemia with high myopia (10%), non-arteritic posterior ischemic optic neuropathy (10%), arteritic posterior ischemic optic neuropathy (3.3%), arteritic anterior ischemic optic neuropathy (3.3%) and PAMM (3.3%). Time from symptoms onset to presentation was reported only in 25 cases (83.3%) with a median of 8hours. Wilcoxon signed-rank test revealed significant improvement in visual acuity after IV PGE1 treatment (V = 465, <i>p</i> < .05). Our analysis revealed preliminary evidence suggesting that IV PGE1 May be a potentially safe and effective treatment for improving VA in patients with posterior segment ischemia.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 2","pages":"107-117"},"PeriodicalIF":0.6,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12990942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147474551","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}
引用次数: 0
A Case of Optic Neuritis with Glial Fibrillary Acidic Protein Antibody and Secondary Ophthalmoplegia. 视神经炎伴胶质纤维酸性蛋白抗体并发继发性眼麻痹1例。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-08-07 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2543883
Juan Zhao, Xi Chen, Hongyu Zhu, Jiawei Wang, Chuntao Lai
{"title":"A Case of Optic Neuritis with Glial Fibrillary Acidic Protein Antibody and Secondary Ophthalmoplegia.","authors":"Juan Zhao, Xi Chen, Hongyu Zhu, Jiawei Wang, Chuntao Lai","doi":"10.1080/01658107.2025.2543883","DOIUrl":"10.1080/01658107.2025.2543883","url":null,"abstract":"<p><p>We report a case of optic neuritis and optic perineuritis complicated by secondary ophthalmoplegia in the setting of serum glial fibrillary acidic protein antibodies (GFAP-Abs) positivity. The patient, a 70-year-old woman, initially presented with right-sided visual loss, followed by ptosis and impaired ocular motility indicating involvement of cranial nerves III, IV, V1, and Ⅵ. Orbital MRI revealed a contrast-enhanced signal extending from the right optic nerve to the superior orbital fissure, accompanied by enhancement of the bilateral optic nerve sheath complex (ONSC). Optical coherence tomography demonstrated thinning of the peripapillary retinal nerve fiber layer in the superior quadrant of the right eye, accompanied by thinning of the ganglion cell-inner plexiform layer in both eyes. Humphrey visual field testing revealed central isopter constriction in the left eye. Visual evoked potentials revealed absence of the P100 wave in the right eye. Serum testing was positive for GFAP-Abs, while cerebrospinal fluid analysis was negative. Serum ANAs showed immunoreactivity to mouse optic nerve, whereas no serum GFAP antibody immunoreactivity was observed. The patient experienced clinical improvement following corticosteroid therapy; however, visual function did not recover. This case highlights a unique neuro-ophthalmologic presentation associated with serum GFAP-Abs positivity and potentially expands the clinical spectrum of GFAP astrocytopathy.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 4","pages":"368-372"},"PeriodicalIF":0.6,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352084","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}
引用次数: 0
Comprehensive Clinical Presentation in a Case of Coexisting Sturge-Weber Syndrome and Neurofibromatosis Type 1. 斯特奇-韦伯综合征合并1型神经纤维瘤病1例临床综合分析。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-08-06 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2544332
Paulo Victor Zattar Ribeiro, Gabriel Simoni, Alef Durigan, Giovanna Susin, Kelvin Ferrari Corniani, Gabriela Mousse de Carvalho, Ester Silveira Ramos
{"title":"Comprehensive Clinical Presentation in a Case of Coexisting Sturge-Weber Syndrome and Neurofibromatosis Type 1.","authors":"Paulo Victor Zattar Ribeiro, Gabriel Simoni, Alef Durigan, Giovanna Susin, Kelvin Ferrari Corniani, Gabriela Mousse de Carvalho, Ester Silveira Ramos","doi":"10.1080/01658107.2025.2544332","DOIUrl":"10.1080/01658107.2025.2544332","url":null,"abstract":"<p><p>Neurofibromatosis Type 1 (NF1) and Sturge-Weber syndrome (SWS) are both genetic disorders with distinct clinical manifestations. NF1 is characterized by multiple neurofibromas, café-au-lait spots, axillary freckling, and potential optic gliomas due to mutations in the <i>NF1</i> gene on chromosome 17. In contrast, SWS is marked by capillary malformations, leptomeningeal angiofibromas, and congenital glaucoma resulting from post-zygotic mutations in the Guanine Nucleotide-Binding Protein (G Protein), subunit Alpha (GNAQ) gene. Here, we report an exceptional coexistence of both NF1 and SWS. The patient displayed multiple café-au-lait spots, neurofibromas, axillary freckling, fulfilling the criteria for NF1. Concurrently, the patient exhibited a port-wine stain in the periorbital territory aligning with the clinical features of SWS.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 4","pages":"373-377"},"PeriodicalIF":0.6,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352569","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}
引用次数: 0
Demographic and Epidemiological Profile of Optic Neuritis in Colombia: A Retrospective Study Using Data from the Comprehensive Information System for Social Protection. 哥伦比亚视神经炎的人口统计学和流行病学概况:一项使用社会保护综合信息系统数据的回顾性研究。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-08-06 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2542227
Juan C Mejia-Serna, Nicolás Rozo, Álvaro J Mejía-Vergara
{"title":"Demographic and Epidemiological Profile of Optic Neuritis in Colombia: A Retrospective Study Using Data from the Comprehensive Information System for Social Protection.","authors":"Juan C Mejia-Serna, Nicolás Rozo, Álvaro J Mejía-Vergara","doi":"10.1080/01658107.2025.2542227","DOIUrl":"10.1080/01658107.2025.2542227","url":null,"abstract":"<p><p>Optic neuritis (ON) and neuromyelitis optica spectrum disorder (NMOSD) lead to demyelinating neuropathy of the optic nerve. The prevalence of this condition has been shown to vary depending on where it is studied. This research aims to describe the demographic characteristics of optic neuritis in Colombia from 2015 to 2021. This is a descriptive cross-sectional study, collecting data from the Integrated Social Protection Information System (SISPRO). This data included diagnostic codes according to the International Statistical Classification of Diseases (ICD-10) for distinct types of optic neuritis from January 1, 2015, to December 31, 2021. We conducted descriptive analyses to delineate the geographical patterns, age demographics, gender distribution and sought to estimate the prevalence of optic neuritis within Colombia during the specified timeframe. We identified a total of 22,525 patients: 6,336 (28.12%) with a diagnosis of NMOSD and 16,189 (71.88%) with a diagnosis of optic ON. The incidence of ON and NMOSD was 7.29 and 2.05 cases per 100 individuals, respectively. The mean age for NMOSD was 45 years and for ON was 44 years. 78.5% of NMOSD patients were female, with a higher prevalence in the departments of Risaralda, Sucre, and Bogotá. For ON, 64.1% of patients were female, with a higher prevalence in Antioquia, Sucre, and Tolima. This is the first epidemiological study of ON and NMOSD conducted in Colombia. The identified prevalence situates the country in the higher range of disease occurrence. Diagnoses are more frequently made in regions with a larger Caucasian population.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"24-29"},"PeriodicalIF":0.6,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119749","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}
引用次数: 0
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