Neuro-Ophthalmology最新文献

{"title":"Clinical Characteristics and Evolution of Ocular Manifestations in Scrub Typhus.","authors":"Fu Yue, Hui Yang","doi":"10.1080/01658107.2024.2424204","DOIUrl":"10.1080/01658107.2024.2424204","url":null,"abstract":"<p><p>Scrub typhus, caused by Orientia tsutsugamushi infection, manifests with fever, rash, eschar, pneumonia, hepatosplenomegaly, and lymphadenopathy. We conducted a review of the ocular manifestations post-infection and found a high incidence (67%) during the recovery phase (2-4 weeks), particularly prevalent in the tropical Tsutsugamushi triangle. Despite China, only three cases of optic neuritis had been reported, suggesting its rarity due to early antibiotic administration, we present the first documented case of binocular optic neuroretinitis due to Orientia tsutsugamushi infection in China. Ophthalmologic screenings should be conducted for patients with systemic scrub typhus infection to rule out ocular involvement. Based on previous literature and our case findings, whether scrub typhus affects the anterior or posterior segment of the eye may be determined by different strains of the pathogen, and this in turn influences the visual prognosis. Early initiation of antibiotics effectively eradicated the pathogens. Studies have indicated that delayed immune inflammation, rather than direct infection, may be the underlying pathogenesis of ocular manifestations. Early and comprehensive corticosteroid therapy during secondary ocular inflammation has shown to effectively curb disease progression and preserve visual function.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 3","pages":"218-223"},"PeriodicalIF":0.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795981","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}

{"title":"Serum Neurofilament Light Chain in Patients with Dominant Optic Atrophy - A Case-Control Study.","authors":"Katharina Valentin, Haleh Aminfar, Thomas Georgi, Mona Schneider, Ewald Lindner, Lisa Eder, Chiara Banfi, Magdalena Holter, Michael Khalil, Arabella Buchmann, Andrea Jerkovic, Nora Woltsche, Christoph Singer, Andreas Wedrich, Peter Werkl, Florina Cavacean","doi":"10.1080/01658107.2025.2472753","DOIUrl":"10.1080/01658107.2025.2472753","url":null,"abstract":"<p><p>In numerous neurodegenerative disorders, neurofilaments, especially their subunits such as the Neurofilament light chain (NfL), are recognized as significant biomarkers of axonal injury when increased in blood or cerebrospinal fluid. Dominant optic atrophy (DOA) is characterized by a degeneration of retinal ganglion cells leading to axonal injury. Aim of this study was the evaluation of serum NfL (sNfL) levels in patients with DOA. sNfL concentration was quantified by a Single Molecule Array (Simoa) SR-X analyzer. Primary aim was the comparison of sNfL between patients with OPA1-DOA confirmed by genetic testing and controls. We further investigated associations between sNfL and age, visual acuity, peripapillary retinal nerve fiber layer thickness (pRNFLT) and disease duration. 22 DOA patients and 22 controls were included in this study. sNfL concentration was higher in DOA patients but did not differ significantly between the DOA group (Median (IQR) = 7.39 (5.25, 11.26) and controls (Median (IQR) = 5.86 (4.50, 9.88); <i>p</i> = .405). We found significant correlations between sNfL and age in both groups (DOA group: rho = 0.77, <i>p</i> < .001; control group: rho = 0.79, <i>p</i> < .001). Correlations between sNfL and visual acuity, pRNFLT and disease duration were not significant. Although elevated sNfL values were found in patients with DOA, we did not observe a significant difference between DOA patients and healthy controls.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 3","pages":"261-267"},"PeriodicalIF":0.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970784/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796002","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}

{"title":"Diplopia in the Spinocerebellar Ataxias: Prevalence, Risk Factors, and Association with Falls.","authors":"Klyve N Otinkorang, Joaquin A Vizcarra, Ali G Hamedani","doi":"10.1080/01658107.2025.2468446","DOIUrl":"10.1080/01658107.2025.2468446","url":null,"abstract":"<p><p>Spinocerebellar ataxias (SCAs) are inherited neurodegenerative disorders characterized by coordination, balance, and gait difficulties. Studies have independently found a high prevalence of diplopia and falls in the SCA population. This analysis aims to determine the prevalence and risk factors for diplopia in SCAs and its association with frequent falls in the SCA population. We analyzed data from participants age ≥ 18 in the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA), a multicenter natural history study of people with SCA. Pre-ataxia genetic carriers and subjects with unknown SCA types or missing demographic data were excluded. Diplopia was ascertained at baseline, and fall questionnaires were completed at baseline and follow-up visits. We measured the prevalence of diplopia overall and by SCA type and used logistic regression to identify characteristics associated with diplopia prevalence. Using mixed effects logistic regression models, we also investigated the relationship between diplopia and frequent falls (≥2 falls/12 months). Of 747 eligible CRC-SCA participants, 280 (37.5%) reported experiencing diplopia at baseline. SCA 3 (OR 4.93, 95% CI 2.76-8.78), SCA 6 (OR 2.81, 95% CI 1.46-5.40), and SCA 8 (OR 2.67, 95% CI 1.05-6.83) were associated with an increased prevalence of diplopia compared to SCA1. Diplopia was not associated with frequent falls cross-sectionally (OR 0.94, 95% CI 0.53-1.65) or longitudinally (OR 0.96, 95% CI 0.42-2.18). Diplopia is common in the SCA population and is associated with SCA type but not increased fall prevalence, functional limitation severity, ataxia severity, or disease duration.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 3","pages":"255-260"},"PeriodicalIF":0.8,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796028","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}

{"title":"Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.","authors":"Angela A Cao, Meghan M Brown, Michael S Lee, Anita M Rashidi, Vania Rashidi","doi":"10.1080/01658107.2024.2424209","DOIUrl":"10.1080/01658107.2024.2424209","url":null,"abstract":"<p><p>We report a case of a 19-year-old Somali American woman who presented with 6 months of progressive bilateral vision changes and ocular discharge, with systemic symptoms including angular cheilitis and dermatitis. The patient was evaluated with comprehensive ophthalmic examination, optical coherence tomography, corticospinal magnetic resonance imaging, and fundus imaging. Comprehensive ophthalmic examination revealed bilateral optic neuropathy. Laboratory testing showed a biotinidase level of <0.1 (normal, 5.5-10 nmol/min/ml). The patient was treated with oral biotin supplementation with improvement in her visual function. Furthermore, a review of the literature of reported cases of biotinidase deficiency optic neuropathy published between June 1987 and February 2024 revealed 40 cases. This entity presents more commonly in males (63%) (<i>n</i> = 27), with an average age of 11.7 ± 12.0 years (<i>n</i> = 35). Patients experienced symptoms for an average of 4.3 ± 8.3 years before they were correctly diagnosed (<i>n</i> = 25). Individuals had an average BCVA of 20/300 in the right eye and 20/250 in the left eye (<i>n</i> = 15) at the time of presentation. Additionally, 38.9% of patients had color vision deficits (<i>n</i> = 18), and 100% of patients had visual field deficits (<i>n</i> = 19). All patients were treated with oral biotin supplementation (<i>n</i> = 25). This case and review of the literature underscore that biotinidase deficiency should be considered in patients with bilateral and progressive optic neuropathy among young adults. Early diagnosis is important as biotin supplementation may halt and/or reverse the disease process.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 3","pages":"224-231"},"PeriodicalIF":0.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795866","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}

{"title":"Ophthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome.","authors":"Manjushree Bhate, Shivani Bansal Bhandari, Deiva Jayaraman, Ravi Varma, Subhadra Jalali","doi":"10.1080/01658107.2025.2460176","DOIUrl":"10.1080/01658107.2025.2460176","url":null,"abstract":"<p><strong>Objective: </strong>To report the ophthalmic, neurological, and radiological profile in a cohort of patients suspected with Joubert syndrome (JS).</p><p><strong>Methods: </strong>A retrospective review of electronic medical records of patients diagnosed with or referred as a diagnosed case of JS was conducted. Clinical profile, visual electrophysiology, and rehabilitation, along with radiologic features, were studied.</p><p><strong>Results: </strong>Total 26 patients were studied, mean age at presentation was 4.6 (±2.8) years, and the male-to-female ratio was 3.3:1. Among patients with quantitative vision assessment (<i>n</i> = 11; 42.3%), severe visual impairment was noted in the better eye at presentation in five patients (45.5%), while moderate vision loss was observed in six patients (54.5%). Fixing following light or no fixation was documented in 15 patients. Astigmatism (with hyperopia/myopia) was the most common refractive error in 14 patients (14/26; 53.84%), and high hypermetropia >+6D was noted in five patients (5/26; 19.23%). Exotropia was more frequent (<i>n</i> = 13; 50%) in patients. Head thrust/oculomotor apraxia was noted in four (15.3%) and retinal dystrophy in eight (32%) patients. Electroretinogram (<i>n</i> = 5/8) testing revealed subnormal or undetectable scotopic and photopic responses. MRI brain revealed a molar tooth sign in all patients (<i>n</i> = 26; 100%). Rehabilitation specialists evaluated 16 children with a range of follow-up visits (1-33 visits), and improvement in visual acuity was noted in eight children.</p><p><strong>Conclusions: </strong>In our cohort, visual impairment with abnormal eye movements and generalized hypotonia were the most consistent clinical features, and a molar tooth sign on MRI brain was the most consistent radiological feature. Neuro-imaging should be considered in all. Visual rehabilitation plays a crucial role in the multidisciplinary management.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 3","pages":"249-254"},"PeriodicalIF":0.8,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796035","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}

{"title":"Neuro-Ophthalmic Characteristics of Patients with Tuberous Sclerosis Complex at a Tertiary Care Referral Centre.","authors":"Barbara D Smith, Lyba A Naseer, Aaron E Rice, John J Bissler, Asim F Choudhri, Lauren C Ditta","doi":"10.1080/01658107.2025.2457587","DOIUrl":"10.1080/01658107.2025.2457587","url":null,"abstract":"<p><p>Tuberous Sclerosis Complex (TSC) is a multisystem neurocutaneous disorder with multiple neuro-ophthalmologic manifestations. The ophthalmologist plays an important role in the multi-disciplinary care team and should be familiar with this condition and its neuro-ophthalmic associations. A retrospective review of patients with TSC presenting to a neuro-ophthalmology clinic between 2015 and 2023 was performed. Patients had a diagnosis of TSC based on genetic testing or clinically definite disease (CDD) and at least one ophthalmic exam. We identified 135 patients. The mean age at the first exam was 14.1 ± 13.0 years. Seventy-three patients (54%) had retinal astrocytic hamartoma (RAH), bilateral in 33 (46%). Patients with TSC2 mutations and CDD were more likely to have RAHs than patients with TSC1 (<i>p</i> < .0005, <0.0001, respectively). In 60 patients where near-infrared reflectance (NIR) imaging guided optical coherence tomography (OCT) was performed, 23 (38%) had RAHs identified that were not seen on fundoscopy. Patients with subependymal giant cell astrocytoma (SEGA) were more likely to have RAHs than patients without (<i>p</i> = .037). The incidence of RAH and achromic patches was similar in patients with vs without TSC-associated neuropsychiatric disorders (TAND). Hamartoma were more common in patients with TSC2 mutations, CDD, and/or SEGA. NIR-guided OCT helps identify RAHs not seen on fundoscopy. Ocular involvement was not related to TANDs.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 3","pages":"241-248"},"PeriodicalIF":0.8,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796029","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}

{"title":"Evaluation of Accommodation Amplitude and Convergence Insufficiency in Patients with Multiple Sclerosis.","authors":"Kadriye Demir Boncukçu, Burçin Çakır, Nilgün Aksoy, Dilcan Kotan","doi":"10.1080/01658107.2024.2416977","DOIUrl":"10.1080/01658107.2024.2416977","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the near reflex components, including accommodation, convergence, and binocular fusional vergences in patients with multiple sclerosis (MS).</p><p><strong>Material-method: </strong>MS patients under 35 years of age without visual evoked potential (VEP) abnormalities (MS Group) and age-matched healthy individuals of (Control Group) were included in the study. Fusional vergence amplitudes, the amplitude of accommodation (AA), stereopsis measurements, near-object fixation and near point of convergence (NPC) measurements, Convergence Insufficiency Symptoms Survey (CISS) results, and the presence of nystagmus were recorded retrospectively from the files of the cases. Statistical comparison was made between the groups.</p><p><strong>Results: </strong>The mean age was 28.04 ± 3.7 years in the MS group (20 females, 4 males) and 27.16 ± 3.1 years in the control group (20 females, 5 males) (<i>p</i> = .763). There was no statistically significant difference between groups in stereopsis (<i>p</i> = .395), mean convergence (<i>p</i> = .666), and divergence amplitudes (<i>p</i> = .773) at a distance, and mean convergence and (<i>p</i> = .836) divergence amplitudes (<i>p</i> = .877) at near, and NPC measurements (<i>p</i> = .908). The mean AA was 5.31 ± 0.7 D in the MS group and 6.1 ± 0.8 D in the control group (<i>p</i> < .001). CISS results were lower in the control group (<i>p</i> < .001). In addition, gaze-evoked nystagmus was statistically significantly higher in the MS group (<i>p</i> < .001).</p><p><strong>Conclusion: </strong>Compared to the healthy control group, MS patients under 35 who did not have optic neuritis had lower accommodation amplitude and more signs in favor of convergence insufficiency symptoms. In addition, gaze evoked nystagmus was observed at a higher rate in the MS group. These findings may guide us in understanding the asthenopia findings of MS patients without optic neuritis.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 2","pages":"147-153"},"PeriodicalIF":0.8,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573593","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}

{"title":"The Characteristics and Visual Outcomes of Dialysis-Associated Non-Arteritic Ischemic Optic Neuropathy: A Comprehensive Systematic Review.","authors":"Hashem Abu Serhan, Abdulla Shaheen, Ahmed Maher, Ibrahim Samir Abdel-Bary, Masoud Rahimi, Mohammad Samara, Ameen Alkhateeb, Anas S R Dalloul, Amr M EElemary, Ayman G Elnahry","doi":"10.1080/01658107.2024.2443194","DOIUrl":"10.1080/01658107.2024.2443194","url":null,"abstract":"<p><p>Non-arteritic ischemic optic neuropathy (NAION) is a common cause of sudden, painless vision loss, often triggered by inadequate blood supply. Dialysis, essential for end-stage renal disease (ESRD), can precipitate intradialytic hypotension, potentially leading to dialysis-associated NAION (DA-NAION). Our protocol was prospectively registered on PROSPERO (CRD42023464202). On 12 December 2023, five databases were searched: PubMed, Scopus, Web of Science, Google Scholar, and Cochrane. We have included all primary studies reporting NAION post-dialysis. Data about baseline characteristics, dialysis types, and NAION were extracted. From 250 identified papers, 24 studies involving 36 patients were included. Patients with DA-NAION presented at a younger age compared to non-dialysis NAION cases. Patients on continuous peritoneal dialysis (CPD) were significantly younger by about 17 years compared to those on hemodialysis. Visual outcomes were generally poor, with an average best corrected visual acuity (BCVA) of 1.33 logMAR (20/428 Snellen). Bilateral involvement was more common in CPD patients (100%) compared to hemodialysis patients (37.5%) (<i>p</i> = .002). Progressive NAION was observed in 33.3% of cases, and 16.7% experienced recurrent episodes. Systemic comorbidities were common, with 47.2% of patients having systemic diseases and 55.6% suffering from cardiovascular diseases (CVD). This systematic review highlights that dialysis, particularly CPD, is associated with the development of NAION. Younger age and systemic comorbidities may be notable risk factors. Bilateral involvement and poor visual outcomes are more common in DA-NAION compared to non-dialysis NAION.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 3","pages":"232-240"},"PeriodicalIF":0.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796006","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}

{"title":"Bilateral Neuroretinitis Induced by Scrub Typhus in China.","authors":"Fu Yue, Hui Yang","doi":"10.1080/01658107.2024.2407855","DOIUrl":"10.1080/01658107.2024.2407855","url":null,"abstract":"<p><p>A 51-year-old female sanitation worker in China developed bilateral neuroretinitis due to scrub typhus. Initially diagnosed with 'scrub typhus infected pneumonia', her symptoms subsided within seven days of chloramphenicol treatment. However, two weeks later, she experienced acute bilateral vision loss. Fundoscopy revealed swollen optic discs, exudates, and a small macular pigment epithelial detachment. Diagnosed with scrub typhus-related neuroretinitis, her vision improved after methylprednisolone treatment. This represents the first reported case of such in southern China, suggesting a delayed immune response to scrub typhus. Early diagnosis and proper treatment are crucial for vision prognosis.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 3","pages":"212-217"},"PeriodicalIF":0.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795860","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}

{"title":"Physician Assistants in Neuro-Ophthalmology.","authors":"Judith E A Warner, Irina Krikova","doi":"10.1080/01658107.2024.2435311","DOIUrl":"10.1080/01658107.2024.2435311","url":null,"abstract":"","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 2","pages":"123-126"},"PeriodicalIF":0.8,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881863/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573006","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}