Neuro-Ophthalmology最新文献

Letter to the Editor: Comment on Tsiogka Et al.'s "Compound Heterozygosity for the C6777T Mutation of the MTHFR Gene and the FII G20210A Mutation of the Prothrombin Gene in Sequential Bilateral Anterior Ischemic Optic Neuropathy". 致编者信：对Tsiogka等人的“序列性双侧前缺血性视神经病变中MTHFR基因C6777T突变和凝血酶原基因FII G20210A突变的复合杂合性”的评论。

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Neuro-Ophthalmology Pub Date : 2025-08-01 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2538138

Kemal Örnek

引用次数: 0

Paediatric IIH: Are There Differences in Visual Outcomes and Recurrence Rates? 儿童IIH：视力结果和复发率有差异吗？

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Neuro-Ophthalmology Pub Date : 2025-07-29 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2498403

Jenna Rock, Jacqueline K Shaia, Jeffrey Chu, Taseen Alam, Ilene Trinh, Rishi P Singh, Katherine E Talcott, Devon A Cohen

{"title":"Paediatric IIH: Are There Differences in Visual Outcomes and Recurrence Rates?","authors":"Jenna Rock, Jacqueline K Shaia, Jeffrey Chu, Taseen Alam, Ilene Trinh, Rishi P Singh, Katherine E Talcott, Devon A Cohen","doi":"10.1080/01658107.2025.2498403","DOIUrl":"https://doi.org/10.1080/01658107.2025.2498403","url":null,"abstract":"Paediatric IIH is a rare condition in children where prepubertal and post-pubertal disease appear distinct. There are major gaps in the literature regarding if these populations have different treatments, visual outcomes, or recurrence rates. The purpose of this study was to characterize the differences in prepubertal/post-pubertal disease while analysing the risk of papilloedema recurrence. Records at a single tertiary institution were screened between 1 June 2012 and September, 2023 for having an ICD code of IIH or papilloedema. All patients were between the ages of 0-18 and stratified by pubertal status. Patients met the revised Dandy diagnostic criteria and secondary causes of IIH were excluded. Demographics, treatment, and visual outcomes data was collected at baseline and 1 year after diagnosis. The incidence of papilloedema resolution and recurrence were collected. All data analysis was performed in R Studio and Excel with a p value of < .05 being significant. Of the 719 IIH patients, 128 (17%) were paediatric with 79 (62%) post-pubertal and 49 (38%) prepubertal at diagnosis. A higher percentage of post-pubertal patients were overweight/obese (77.2%) and female (77%) compared to prepubertal patients (p < .05). Overall, 6 (4.7%) patients had a poor visual outcome; however, this did not differ regarding pubertal status (p > .05). Papilloedema recurrence occurred in 24% of the population. There was no difference in recurrence rates between prepubertal and post-pubertal patients (p > .05). Although post-pubertal and prepubertal disease may differ in demographics and presenting features, there was no significant difference in visual outcomes and recurrence rates.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 5","pages":"366-373"},"PeriodicalIF":0.8,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12445517/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113868","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

Outer Retinal Layer Assessment in Patients with Relapsing-Remitting Multiple Sclerosis: Multifocal Field Electroretinography and Optical Coherence Tomography. 复发-缓解型多发性硬化症患者视网膜外层评估：多焦场视网膜电图和光学相干断层扫描。

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Neuro-Ophthalmology Pub Date : 2025-06-13 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2498406

Alaa A Meshref, Hanan Hosny, Hossam Khalil, Mona Hussein, Asmaa Samir, Rehab Elanwar, Rehab Magdy

{"title":"Outer Retinal Layer Assessment in Patients with Relapsing-Remitting Multiple Sclerosis: Multifocal Field Electroretinography and Optical Coherence Tomography.","authors":"Alaa A Meshref, Hanan Hosny, Hossam Khalil, Mona Hussein, Asmaa Samir, Rehab Elanwar, Rehab Magdy","doi":"10.1080/01658107.2025.2498406","DOIUrl":"https://doi.org/10.1080/01658107.2025.2498406","url":null,"abstract":"Relapsing remitting multiple sclerosis (RRMS) may cause primary retinopathy, which reflects central nervous system atrophy. This study aimed to assess the outer retinal layers in RRMS patients with and without optic neuritis (ON) functionally by multifocal electroretinography (mf-ERG) and structurally by spectral-domain optical coherence tomography (OCT). This case-control study evaluated the eyes of 30 RRMS patients and 30 age - and sex-matched healthy subjects using mf-ERG and OCT. There was a significantly lower amplitude and delayed peak time of all five retinal rings in MS-ON and MS-non-ON eyes than in controls (p-values ≤ 0.05). However, most mf-ERG parameters showed no statistically significant difference between ON and non-ON eyes, except for a delayed peak time in R2 (p-value = 0.004) and a lower amplitude in R3 (p-value = 0.012) in MS-ON eyes compared to MS-non-ON eyes. The thickness of the outer and inner retina was significantly decreased in MS-ON and MS-non-ON eyes compared to controls (p < 0.001), with no significant difference between MS-ON and MS-non-ON eyes. Functional and structural alterations of the bipolar and photoreceptor layers in the outer retina are present in RRMS with or without ON. Therefore, the outer retina could be a site for primary pathology in MS unrelated to the optic nerve affection.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 5","pages":"374-381"},"PeriodicalIF":0.8,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113905","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

Take Caution of Normal Visual Acuity in Posterior Cortical Atrophy! 当心后皮质萎缩患者的正常视力！

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Neuro-Ophthalmology Pub Date : 2025-05-22 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2507407

Tristan Jurkiewicz, Maité Formaglio, Sarah Verrecchia, Caroline Froment, Laure Pisella

{"title":"Take Caution of Normal Visual Acuity in Posterior Cortical Atrophy!","authors":"Tristan Jurkiewicz, Maité Formaglio, Sarah Verrecchia, Caroline Froment, Laure Pisella","doi":"10.1080/01658107.2025.2507407","DOIUrl":"https://doi.org/10.1080/01658107.2025.2507407","url":null,"abstract":"Higher-order visual symptoms of patients with posterior cortical atrophy (PCA) are not well recognized in routine ophthalmological examination. More specifically, vision as assessed by the Snellen or Monoyer chart may not be sensitive enough. We hypothesized increased visual difficulties related to 1) visual crowding and to 2) short distances/larger stimuli. We therefore aimed at comparing 1) far visual acuity measures using the Monoyer (each line is presented separately) and the ETDRS charts (all lines are presented at the same time), as well as 2) far and closer visual acuity using the ETDRS chart (at 4 and at 2 meters). These tests were performed in a group of patients with PCA (PCA-AD) and a group of typical amnesic form (T-AD as a control group) of Alzheimer disease (AD) without any ophthalmologic pathology. While the Monoyer chart did not allow to distinguish between the two groups, the PCA-AD group specifically displayed a decrease of visual acuity when the ETDRS chart, rather than the Monoyer chart, was tested at 4 meters (effect of visual crowding), and another decrease when the ETDRS chart was tested at 2 meters, rather than at 4 meters (effect of stimulus size/distance). This uncommon decrease of visual acuity with closer distance correlated with a score of higher-order visual symptoms (Q-ACP). The present study incites ophthalmologists to pay attention to the possible discrepancy between different conditions of visual acuity assessment and preconizes to combine these conditions for a better evaluation.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 5","pages":"391-396"},"PeriodicalIF":0.8,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113926","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

24-Hour Blood Pressure Patterns in NAION: Exploring the Impact of Dipping Classifications and Comorbidities. 24小时血压模式在全国：探索浸分级和合并症的影响。

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Neuro-Ophthalmology Pub Date : 2025-05-19 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2505616

Ahmet Özdemir, İnci Güngör

{"title":"24-Hour Blood Pressure Patterns in NAION: Exploring the Impact of Dipping Classifications and Comorbidities.","authors":"Ahmet Özdemir, İnci Güngör","doi":"10.1080/01658107.2025.2505616","DOIUrl":"https://doi.org/10.1080/01658107.2025.2505616","url":null,"abstract":"Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION) is a leading cause of sudden visual loss, particularly in older individuals. Vascular risk factors, including hypertension and diabetes, play a significant role in its pathogenesis. This study explores the association between 24-hour blood pressure patterns, newly diagnosed hypertension, and visual loss in NAION patients, emphasizing the impact of dipping classifications and comorbidities. A retrospective analysis was conducted on 41 NAION patients (aged 27-86 years). Ambulatory blood pressure monitoring (ABPM) over 24 hours categorized patients into four groups: dipper, non-dipper, reverse dipper, and extreme dipper. Blood pressure values were classified into diurnal (08:00-22:59) and nocturnal (23:00-07:59) periods. Visual acuity was assessed using the LogMAR scale, and systemic comorbidities, including hypertension, diabetes, and body mass index (BMI), were recorded. Significant variations in blood pressure patterns were observed, with non-dipper and reverse dipper patients showing the greatest discrepancies between daytime and nighttime blood pressure levels. Visual acuity loss was most severe in reverse dippers (LogMAR 2.00 ± 0.15) and extreme dippers (LogMAR 2.00). Newly diagnosed hypertension was prevalent, emphasizing the importance of ABPM. Nocturnal hypertension was strongly associated with worse visual outcomes, with 83.9% of these patients classified as non-dipper or reverse dipper. Abnormal blood pressure patterns, particularly non-dipper and reverse dipper classifications, correlate with visual loss in NAION. The frequent detection of undiagnosed hypertension supports the integration of routine blood pressure monitoring, particularly nocturnal measurements, into NAION evaluation. A comprehensive vascular assessment in NAION management may improve patient outcomes.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 5","pages":"382-390"},"PeriodicalIF":0.8,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447833/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113836","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

Age-Associated Differences in Optic Disc Findings of Leber's Hereditary Optic Neuropathy. Leber遗传性视神经病变视盘表现的年龄相关性差异。

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Neuro-Ophthalmology Pub Date : 2025-05-09 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2025.2501053

Yasuyuki Takai, Akiko Yamagami, Mayumi Iwasa, Kenji Inoue, Ryoma Yasumoto, Hitoshi Ishikawa, Masato Wakakura

{"title":"Age-Associated Differences in Optic Disc Findings of Leber's Hereditary Optic Neuropathy.","authors":"Yasuyuki Takai, Akiko Yamagami, Mayumi Iwasa, Kenji Inoue, Ryoma Yasumoto, Hitoshi Ishikawa, Masato Wakakura","doi":"10.1080/01658107.2025.2501053","DOIUrl":"https://doi.org/10.1080/01658107.2025.2501053","url":null,"abstract":"We aimed to investigate the relationship between age and acute-phase optic disc findings in Leber's Hereditary Optic Neuropathy (LHON). We examined 27 LHON patients (27 eyes) with the m.11778 G>A mutation within two months of onset, with acute-phase optic disc findings. We analyzed the relationship between age and three key optic disc features: peripapillary telangiectasia, disc hyperemia, and retinal nerve fiber layer (RNFL) swelling. The median age of onset was 37 years (range: 10-68), with 22 males and five females. Peripapillary telangiectasia was observed in 23 eyes (85.2%), disc hyperemia in 21 eyes (77.8%), and RNFL swelling in 16 eyes (53.9%). Patients without RNFL swelling were significantly older than those with RNFL swelling (median age 54 vs. 24.5 years, p = .003; Mann-Whitney U test). RNFL swelling was less common in patients aged 50 and above (20.0% vs. 82.4% in those under 50; odds ratio 0.06; 95% CI 0.04-0.51, p = .003; Fisher's exact test). Age at onset was not significantly associated with peripapillary telangiectasia or disc hyperemia. Among acute-phase optic disc findings in LHON, RNFL swelling was less common in older patients. Clinicians should know that atypical optic disc presentations may occur in older LHON patients.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 5","pages":"359-365"},"PeriodicalIF":0.8,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113879","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

Clinical Characteristics and Evolution of Ocular Manifestations in Scrub Typhus. 恙虫病的临床特点及眼部表现的演变。

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Neuro-Ophthalmology Pub Date : 2025-04-02 eCollection Date: 2025-01-01 DOI: 10.1080/01658107.2024.2424204

Fu Yue, Hui Yang

{"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":"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.","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}

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。

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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":"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); p = .405). We found significant correlations between sNfL and age in both groups (DOA group: rho = 0.77, p < .001; control group: rho = 0.79, p < .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.","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}

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。

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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":"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.","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}

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。

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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":"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%) (n = 27), with an average age of 11.7 ± 12.0 years (n = 35). Patients experienced symptoms for an average of 4.3 ± 8.3 years before they were correctly diagnosed (n = 25). Individuals had an average BCVA of 20/300 in the right eye and 20/250 in the left eye (n = 15) at the time of presentation. Additionally, 38.9% of patients had color vision deficits (n = 18), and 100% of patients had visual field deficits (n = 19). All patients were treated with oral biotin supplementation (n = 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.","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}

引用次数: 0