Neuro-Ophthalmology最新文献

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Recurrent Eosinophilic Angiocentric Fibrosis Presenting as Compressive Optic Neuropathy in a 39-Year-Old Male: A Case Report. 39岁男性复发性嗜酸性血管中心性纤维化表现为压迫性视神经病变1例报告。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-03-31 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2485454
Priyanka Arora, Yesha Gupta, Ishaan Goyal, Abhinav Mohindra, Monika Singla
{"title":"Recurrent Eosinophilic Angiocentric Fibrosis Presenting as Compressive Optic Neuropathy in a 39-Year-Old Male: A Case Report.","authors":"Priyanka Arora, Yesha Gupta, Ishaan Goyal, Abhinav Mohindra, Monika Singla","doi":"10.1080/01658107.2025.2485454","DOIUrl":"10.1080/01658107.2025.2485454","url":null,"abstract":"<p><p>Eosinophilic angiocentric fibrosis (EAF) is a rare, slowly progressive fibrosing condition with a predilection for the upper respiratory tract, particularly the nasal cavity. Patients often present with nonspecific nasal symptoms and may experience rare ocular manifestations such as epiphora, diplopia, and proptosis. We report a case of a 39-year-old male who presented with sudden-onset vision loss, ptosis in right eye and diplopia, which was found to be associated with recurrent EAF leading to compressive optic neuropathy. Despite initial management with intravenous steroids, the patient showed no improvement and was subsequently treated with rituximab. This case highlights the importance of considering EAF in the differential diagnosis of orbital masses and emphasizes the role of immunosuppression in managing recurrent cases.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"87-91"},"PeriodicalIF":0.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119782","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
Acute Macular Neuroretinopathy in Association with Orbital Inflammation and Optic Perineuritis. 急性黄斑神经视网膜病变与眼窝炎症和视神经会阴炎有关。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-03-20 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2476590
Hui-Chen Lin, Cheng-Kuo Cheng, Ting-Yu Lin, Pai-Huei Peng
{"title":"Acute Macular Neuroretinopathy in Association with Orbital Inflammation and Optic Perineuritis.","authors":"Hui-Chen Lin, Cheng-Kuo Cheng, Ting-Yu Lin, Pai-Huei Peng","doi":"10.1080/01658107.2025.2476590","DOIUrl":"10.1080/01658107.2025.2476590","url":null,"abstract":"<p><p>A 17-year-old girl experienced acute onset of decreased vision with pain on movement in her left eye. Her best-corrected visual acuity was 20/20 in the right eye and 20/100 in the left eye. Pupillary examination revealed a positive relative afferent pupillary defect. Fundus examination showed optic disc hyperemia and retinal folds. A central scotoma was detected on a perimetry test. Fluorescein angiography indicated mild disc leakage in the late phase. Orbital magnetic resonance imaging disclosed enhancement in the soft tissue of the left retrobulbar area and at the sheath of the left optic nerve. Optical coherence tomography (OCT) revealed subretinal fluid at the fovea, disruption of the ellipsoid zone (EZ), a hyper-reflective band at the outer plexiform layer (OPL), and hyper-reflective foci (HRF) in the inner retinal layer. Pulse therapy was administered, followed by oral steroid tapering. One week later, OCT showed almost complete resolution of subretinal fluid, no HRF, partial improvement in the thickening of the OPL, but persistent EZ disruption. One month later, her vision in the left eye improved to 0.6. Here we present a rare case of AMN associated with orbital inflammation and optic perineuritis, mimicking acute optic neuritis. Although the status of myelin oligodendrocyte glycoprotein (MOG) antibodies in our patient remains uncertain, her ophthalmologic manifestations strongly suggest myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). This study highlights the importance of OCT examination, especially macular scanning, for establishing a proper diagnosis.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"81-86"},"PeriodicalIF":0.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119732","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
Acute Orbital Inflammatory Syndrome and Vision Loss After Aminobisphosphonate Infusion. 氨基二膦酸钠输注后急性眼窝炎症综合征和视力丧失。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-03-20 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2474549
Nicholas R Levergood, Valerie Purvin
{"title":"Acute Orbital Inflammatory Syndrome and Vision Loss After Aminobisphosphonate Infusion.","authors":"Nicholas R Levergood, Valerie Purvin","doi":"10.1080/01658107.2025.2474549","DOIUrl":"10.1080/01658107.2025.2474549","url":null,"abstract":"<p><strong>Background: </strong>Aminobisphosphonates (AP) are used in the management of osteoporosis and Paget's disease because of their action as an inhibitor of bone resorption. Systemic and orbital inflammatory syndromes have been reported after infusion with AP medications, most commonly after intravenous (IV) zoledronate.</p><p><strong>Case presentation: </strong>A 62-year-old male received COVID-19 and influenza vaccinations followed two days later by IV zoledronate infusion. The next day he developed flu-like symptoms followed two days later by right eye pain. An MRI showed right orbital enhancement prompting a short course of oral steroids. Two weeks later, he developed abrupt, severe visual loss accompanied by pallid disc edema. Despite treatment with high-dose intravenous steroids, vision failed to recover.</p><p><strong>Discussion: </strong>Blurred vision is common in AP-related orbital inflammation, but permanent vision loss is rare. In the few previously reported cases with optic nerve involvement, vision recovered with steroid treatment in all but one patient. In that case, and in our patient, the clinical features suggested an ischemic mechanism. In our case, the appearance of pallid disc edema more specifically pointed to inflammation of disc vasculature.</p><p><strong>Conclusion: </strong>This case serves to expand the clinical parameters of AP-associated orbital inflammation. The basis for our patient's worse visual outcome is unclear, perhaps related to preceding vaccination.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"77-80"},"PeriodicalIF":0.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119725","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
Serum Neurofilament Light Chain in Patients with Dominant Optic Atrophy - A Case-Control Study. 显性视神经萎缩患者血清神经丝轻链的病例-对照研究。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-03-07 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2472753
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
{"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":0.6,"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}
引用次数: 0
The Clinical Use of Retinotopy in Functional Hemianopia. 视网膜切除治疗功能性偏视的临床应用。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-03-07 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2474542
Roberto Mendes Franco, Otília C d'Almeida, Miguel Raimundo, Pedro Fonseca, Sara Matos, Ana Inês Martins, André Jorge, Daniela Pereira, Miguel Castelo-Branco, João Lemos
{"title":"The Clinical Use of Retinotopy in Functional Hemianopia.","authors":"Roberto Mendes Franco, Otília C d'Almeida, Miguel Raimundo, Pedro Fonseca, Sara Matos, Ana Inês Martins, André Jorge, Daniela Pereira, Miguel Castelo-Branco, João Lemos","doi":"10.1080/01658107.2025.2474542","DOIUrl":"10.1080/01658107.2025.2474542","url":null,"abstract":"<p><strong>Objective: </strong>Functional visual loss presents a challenge in clinical practice. Its classical diagnostic approach includes the use of bedside techniques, visual-evoked potentials (VEP), among other techniques that can be cumbersome and not always diagnostic. We investigated the use of population receptive field (pRF) mapping, a functional magnetic resonance imaging (fMRI) technique mostly used in research to study visual function in cortical visual areas, to support the diagnosis of functional hemianopia in the clinical setting.</p><p><strong>Methods: </strong>A 27-year-old female patient presenting with a 6-month history of blurred vision in both eyes, underwent clinical exam, computerized perimetry, optical coherence tomography (OCT), brain MRI, EEG, and VEP. Subsequently, she underwent fMRI stimulation.</p><p><strong>Results: </strong>There were inconsistent responses in the left hemifields during confrontational visual field testing. Computerized perimetry showed a left homonymous and congruous hemianopia. Brain MRI, EEG, and VEP were unremarkable. fMRI stimulation showed similar pRF maps between hemispheres, indicating preservation of visual function. Follow-up OCT showed no signs of homonymous transsynaptic retrograde degeneration. The diagnosis of functional hemianopia was explained, and the patient was reassured.</p><p><strong>Discussion: </strong>Cortical mapping of pRF might be a potential and helpful tool in the clinical assessment of functional visual loss.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"72-76"},"PeriodicalIF":0.6,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119815","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
Diplopia in the Spinocerebellar Ataxias: Prevalence, Risk Factors, and Association with Falls. 脊髓小脑共济失调的复视:患病率、危险因素及其与跌倒的关系。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-02-21 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2468446
Klyve N Otinkorang, Joaquin A Vizcarra, Ali G Hamedani
{"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":0.6,"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}
引用次数: 0
Anterior Ischemic Optic Neuropathy Associated with Acute Severe Anemia Due to Myelodysplastic Syndrome (MDS): A Case Report. 前缺血性视神经病变与骨髓增生异常综合征(MDS)所致急性严重贫血相关:1例报告。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-02-18 eCollection Date: 2026-01-01 DOI: 10.1080/01658107.2025.2464172
Efrat Zamir, Niv Levy
{"title":"Anterior Ischemic Optic Neuropathy Associated with Acute Severe Anemia Due to Myelodysplastic Syndrome (MDS): A Case Report.","authors":"Efrat Zamir, Niv Levy","doi":"10.1080/01658107.2025.2464172","DOIUrl":"10.1080/01658107.2025.2464172","url":null,"abstract":"<p><p>A 73-year-old male with cardio-vascular risk factors and myelodysplastic syndrome presented with first event of acute painless altitudinal vision loss in the left eye, accompanied by bilateral optic disk swelling. Neuro-ophthalmologic examination revealed afferent disturbances, including a positive relative afferent pupillary defect. Laboratory tests showed normocytic anemia with hemoglobin level of 5.9 g/dL, erythrocyte sedimentation rate (ESR) of 75 mm/h and a c-reactive protein level (CRP) of 0.46 mg/dl. Other lab results were unremarkable. A thorough workup ruled out differential diagnoses such as: increased intracranial pressure, giant cell arteritis and optic neuropathy due to leukemic transformation. Two months later, a recurrent episode of acute painless altitudinal vision loss in the right eye accompanied by a recurrence of severe anemia led us to the most probable diagnosis: anterior ischemic optic neuropathy associated with acute severe anemia.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"50 1","pages":"66-71"},"PeriodicalIF":0.6,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12867383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119776","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
Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review. 生物素酶缺乏致视神经病变1例报告及文献复习。
IF 0.6
Neuro-Ophthalmology Pub Date : 2025-02-18 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2024.2424209
Angela A Cao, Meghan M Brown, Michael S Lee, Anita M Rashidi, Vania Rashidi
{"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":0.6,"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}
引用次数: 0
Ophthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome. Joubert综合征患者队列的眼科、神经学、放射学和视力康复概况和结果。
IF 0.8
Neuro-Ophthalmology Pub Date : 2025-02-10 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2460176
Manjushree Bhate, Shivani Bansal Bhandari, Deiva Jayaraman, Ravi Varma, Subhadra Jalali
{"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}
引用次数: 0
Neuro-Ophthalmic Characteristics of Patients with Tuberous Sclerosis Complex at a Tertiary Care Referral Centre. 一家三级医疗转诊中心的结节性硬化综合症患者的神经眼科特征。
IF 0.8
Neuro-Ophthalmology Pub Date : 2025-02-05 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2457587
Barbara D Smith, Lyba A Naseer, Aaron E Rice, John J Bissler, Asim F Choudhri, Lauren C Ditta
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