Neuro-Ophthalmology最新文献

{"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":"Multiple Cranial Nerve Palsies due to Lemierre Syndrome Associated with Atypical <i>Streptococcus pyogenes</i> Infection.","authors":"Chathuranka De Silva, Toby Lindenbaum","doi":"10.1080/01658107.2024.2443190","DOIUrl":"https://doi.org/10.1080/01658107.2024.2443190","url":null,"abstract":"<p><p>Lemierre syndrome is an extremely rare but life-threatening condition, characterized by septic thrombophlebitis of the internal jugular vein. There is usually a preceding oropharyngeal infection, and the culprit pathogen is usually <i>Fusobacterium necrophorum</i>. We present an unusual case of Lemierre syndrome caused by <i>Streptococcus pyogenes</i>. The patient initially presented to ophthalmology with multiple cranial nerve palsies and cavernous sinus thrombosis. He was successfully treated with antibiotics in a timely fashion. This is the first report to show this pathogen causing severe ophthalmic complications from Lemierre syndrome.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 5","pages":"420-426"},"PeriodicalIF":0.8,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113861","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":"Thymolipoma as a Rare Cause of Myasthenia Gravis.","authors":"Natalie Si-Yi Lee, Levi Bassin, Kate Ahmad","doi":"10.1080/01658107.2025.2449873","DOIUrl":"https://doi.org/10.1080/01658107.2025.2449873","url":null,"abstract":"<p><p>We present two cases of a rare thymic tumor presenting with ocular myasthenia gravis. Patient A was a male in his 40s who presented with bilateral diplopia. Investigations revealed negative myasthenic antibodies and positive jitter on single fiber electromyography. Patient B was a female in her 20s who presented with bilateral and fluctuating ptosis and diplopia, and was found to have positive acetylcholine receptor antibodies. Both patients demonstrated thymic hyperplasia on computed tomography chest and underwent robotic thymectomy. Pathology of the excised thymic tissue confirmed thymolipoma. We discuss the incidence, presentation, and management of thymolipomatous myasthenia gravis and present robotic thymectomy as a minimally invasive surgical treatment for thymolipoma.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 5","pages":"427-430"},"PeriodicalIF":0.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12445510/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114015","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":"A Case of Late-Onset Leber's Hereditary Optic Neuropathy in Association with Heteroplasmic m.11778G>A/ND4 Mutation.","authors":"Giacomo Portaro, Francesco Cavallieri, Giulia Amore, Michele Carbonelli, Simone Pelloni, Giuseppe Cavallieri, Valerio Carelli, Franco Valzania, Chiara La Morgia","doi":"10.1080/01658107.2024.2440398","DOIUrl":"https://doi.org/10.1080/01658107.2024.2440398","url":null,"abstract":"<p><p>A 68-year-old man described a progressive, painless, and bilateral reduction of visual acuity, with greater difficulties in central vision, over a period of 3 years. His past medical history was unremarkable, and he admitted a long exposure to tobacco smoking and moderate daily alcohol intake. The first ophthalmological evaluation confirmed a bilateral reduction of visual acuity, without other major findings. Visual fields showed a central scotoma in the right eye and a temporal pseudo-hemianopia in the left eye. The neurological examination was unremarkable. A slight cobalamin deficiency was detected after the first panel of investigations, and he was diagnosed and treated for the cause that seemed most obvious. Surprisingly, nutritional optic neuropathy was not his final diagnosis. This case shows how the paraclinical findings may help to address the correct diagnosis, summarizing a comprehensive approach to patients with progressive and bilateral visual loss and highlighting the main differential diagnosis.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 5","pages":"397-401"},"PeriodicalIF":0.8,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113839","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":"Non-Paralytic Pontine Exotropia Rapidly Switching to Esotropia in a Pontine Stroke - A Case Report.","authors":"Gabriel Etienne Brito de Salles, Arthur M Albuquerque, Victor Evangelista Rodrigues Pereira, Guilherme Loures Penna","doi":"10.1080/01658107.2024.2435313","DOIUrl":"https://doi.org/10.1080/01658107.2024.2435313","url":null,"abstract":"<p><p>Non-paralytic pontine exotropia (NPPE) is a rare condition characterized by internuclear ophthalmoplegia associated with exotropia in the contralateral eye. We report a case of an 82-year-old woman with acute onset of right eye exotropia and adduction deficit of the left eye. Magnetic resonance imaging showed areas of restricted diffusion in the left paramedian midbrain, left precentral gyri, and right superior parietal gyri. She recovered after 3 days. On the seventh day after onset, the left eye appears with an esotropia, a finding never described before in NPPE. For a better understanding of the pathophysiology and recognition of NPPE, more reports like this are essential to encourage more publications on the topic and the creation of guidelines for this type of ophthalmoplegia.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 5","pages":"415-419"},"PeriodicalIF":0.8,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12445504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113863","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}