Search Results (109)

Background and Clinical Significance: Bilateral carotid-cavernous fistulas are rare clinical entities characterized by heterogeneous clinical presentations and variable outcomes. Case presentation: We report the case of a 69-year-old woman with a three-month history of progressive bilateral conjunctival hyperemia, proptosis, intermittent diplopia, and a left eye abduction deficit. Her systemic history included long-standing arterial hypertension and previous thyroidectomy with stable substitutive therapy. Comprehensive ophthalmologic, neurologic, and endocrine evaluations excluded more common causes of orbital congestion, including thyroid eye disease, orbital cellulitis, cavernous sinus thrombosis, and idiopathic orbital inflammation. The patient denied any history of recent trauma. Digital subtraction angiography (DSA) confirmed a bilateral, low-flow, indirect Barrow type D carotid–cavernous fistula (CCF) supplied by dural branches of both the internal and external carotid arteries, with marked reflux into dilated superior ophthalmic veins. DSA was essential, as prior CT and MRI studies did not identify any vascular abnormalities. The patient was scheduled for transvenous embolization; however, during the follow-up she noted gradual improvement in her condition. Repeat pre-procedural angiography performed approximately two months later demonstrated complete spontaneous closure of all shunts, accompanied by full clinical resolution. Conclusions: Owing to the exceptional rarity of bilateral indirect CCFs and the added occurrence of spontaneous closure, this case expands the limited existing literature and emphasizes the diagnostic challenges and the need for individualized treatment timing supported by multidisciplinary evaluation in low-flow dural carotid–cavernous fistulas. Full article

Background/Objectives: Oculomotor nerve palsy (OMNP) is a clinically significant condition that may represent the earliest manifestation of life-threatening intracranial pathology, particularly aneurysmal compression or neoplasia. Despite its neurosurgical relevance, comprehensive meta-analytic evidence synthesizing OMNP etiologies, clinical presentation, and contemporary diagnostic pathways remains limited. Methods: Following PRISMA 2020 guidelines, MEDLINE, Scopus, and Web of Science were systematically searched for studies reporting quantitative data on OMNP. Pooled prevalence estimates were calculated using random-effects models for causes and symptoms, while a structured narrative synthesis was performed for diagnostic modalities because outcome reporting was heterogeneous and unsuitable for meta-analysis. Risk of bias was assessed using the Joanna Briggs Institute (JBI) risk of bias tool. Results: Twenty-four studies involving 5541 patients were included. Using a multivariate multilevel model to account for within-study dependence, the most common etiological category was vascular disorders (35.62%), followed by idiopathic (16.47%) and neoplastic (12.10%). Head trauma and aneurysms accounted for 11.26% and 10.08% of cases, respectively. Diplopia (60.63%) and ptosis (54.12%) remained the predominant clinical symptoms, while pupil involvement was identified in 40.62% of the pooled population. Diagnostic paradigms have shifted decisively toward non-invasive neuroimaging, with magnetic resonance imaging reported in 66% of included studies and magnetic resonance or computed tomographic angiography increasingly employed to identify surgically relevant vascular lesions. Conclusions: Although vascular disorders represented the most common etiological category, the notable prevalence of aneurysmal and neoplastic causes underscores the importance of prompt high-resolution neuroimaging and early neurosurgical assessment. Early recognition and etiological stratification remain essential to optimize management and prevent irreversible neurological morbidity. Full article

Ocular tilt reaction (OTR) and trochlear nerve palsy (TNP) can induce cyclotorsion. We aimed to assess the utility of fundus photography in distinguishing between these disorders. The database of a neuro-ophthalmology hospital-based clinic was retrospectively searched for patients referred for new-onset vertical diplopia between 2020 and 2023. Medical data were collected, and the angle between the optic disc and fovea was measured using ImageJ software to quantify torsion. Distinct torsional patterns were identified between the groups. OTR was characterized by variable, often conjugate torsion, whereas TNP demonstrated consistent disconjugate extorsion. Analysis of interocular torsional relationships, rather than magnitude alone, provided useful diagnostic discrimination. Fundus photography may be useful for differentiating OTR from TNP in complicated neurological cases, particularly in patients who are difficult to examine. This study emphasizes the practical clinical value of fundus photography as a simple, accessible, and objective tool for differentiating OTR from TNP, by contributing the torsional component of OTR triad, particularly in emergency or diagnostically challenging settings where standard examination may be limited. Full article

Background: Eye-tracking (ET) devices are gaining attention in technology-based paediatric rehabilitation through their intrinsic ability to assess patients’ engagement and visual attention within motivating, technology-based environments. We conducted a systematic review of available evidence from 2004 to 2025 on the implementation of ET in rehabilitative trainings targeting paediatric populations with neurological and neurodevelopmental disorders. This paper aims to outline the rehabilitative outcomes pursued in the clinical populations considered. Methods: This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Three electronic databases (PubMed, Web of Science, and Scopus) were consulted to summarise the state of the art of the last 20 years. Selected articles were categorised according to the type of treated disorder and the rehabilitated function. Results: ET devices have been increasingly integrated into paediatric rehabilitation with promising results across multiple neurodevelopmental conditions (e.g., ASD, ADHD, cerebral palsy). These systems have proven effective not only in training gaze control, but also in enhancing executive functions, social cognition, communication, and participation. Furthermore, they promote personalised and data-driven solutions and support high levels of engagement, feasibility, and user satisfaction. Conclusions: ET represents a promising frontier for paediatric rehabilitation, addressing various neurodevelopmental disorders. The gaze-contingent protocols employed have demonstrated potential effects in promoting adaptive behaviour across multiple developmental areas. Further research is warranted to provide shared guidance and to strengthen practice recommendations. Full article

Background/Objectives: Tangent screen perimetry is a valuable tool for detecting functional visual loss (FVL), which is suspected when the visual field fails to expand as expected with distance. However, there is currently a lack of research documenting the specific tangent screen patterns produced by patients with organic visual loss (OVL), defined as visual field loss caused by identifiable structural or neurologic pathology. This study aims to characterize the visual field patterns observed in patients with organic and functional pathologies during tangent screen perimetry and evaluate its diagnostic efficacy in confirming FVL. Methods: Medical records of patients from Seoul National University Bundang Hospital between August 2009 and August 2019 were reviewed. All subjects underwent a comprehensive neuro-ophthalmologic examination with additional testing to confirm the diagnosis of OVL or FVL. A total of 126 eyes from 76 patients exhibiting visual field constriction within 30 degrees were included. The tangent ratio (TR) was defined as the average visual field (in radians) at a far distance (e.g., 2 m) divided by the average visual field at a near distance (e.g., 1 m). The visual field patterns and TR were analyzed, and the diagnostic value of TR in detecting FVL was determined. Results: The clover leaf pattern and reversal pattern were observed in 8.8% and 12.7% of FVL cases, respectively, whereas no such patterns were found in OVL cases (p = 0.002, p < 0.001). The TR varied from 0.50 to 1.06 (mean 0.77 ± 0.16) in OVL and from 0.33 to 1.03 (mean 0.65 ± 0.15) in FVL (p < 0.001). Younger age, a clover leaf pattern or reversal pattern on tangent screen perimetry, and a lower TR were significantly associated with FVL. Conclusions: Tangent screen perimetry is an effective adjunct for differentiating functional from organic visual field loss, particularly in cases of visual field constriction. Full article

Background: We report an uncommon presentation of Lyme disease and highlight the importance of a detailed history in a patient with new-onset sixth nerve palsy. Methods: Case report and literature review. Results: A 46-year-old man receiving infliximab presented to the ophthalmology emergency department with horizontal binocular diplopia. History revealed a diffuse headache that had begun three weeks earlier. Ophthalmologic examination demonstrated a left sixth cranial nerve palsy. The workup showed positive Borrelia serum IgG, which was interpreted as a likely false-positive result given the limited specificity of serologic testing. At follow-up, the patient reported left-sided peripheral facial palsy, and worsening headache and diplopia. Further history revealed prior erythema migrans treated with doxycycline four months earlier. Considering these new findings, a lumbar puncture was performed and demonstrated intrathecal production of Borrelia antibodies. Neuroborreliosis, a neurologic involvement secondary to systemic infection by the spirochete Borrelia burgdorferi, was diagnosed. The patient was treated with oral doxycycline for 28 days with complete resolution of symptoms. Conclusions: Lyme disease may present with progressive neuro-ophthalmologic symptoms, underscoring the crucial role of ophthalmologists in its diagnosis. Moreover, immunosuppression may delay diagnosis and allow neurological progression, highlighting the need for careful history taking and close follow-up. Full article

Background and Clinical Significance: Patients with Hodgkin lymphoma (HL) often present with lymphadenopathy, biochemical inflammation, and constitutional symptoms, but may experience symptoms from extra-nodal organs. Symptoms are caused by either lymphoma or a paraneoplastic phenomenon but overt central nervous system (CNS) involvement in HL is very uncommon. However, in rare cases, paraneoplastic neuro-ophthalmologic manifestations occur. Case Presentation: This case report describes a young female diagnosed with HL initially presenting with visual loss, reduced visual field, impaired balance, and sensory disturbances but no evidence of CNS-lymphoma. After treatment with bleomycin, etoposide, adriamycin, cyclophosphamide, vincristine, procarbazine, and prednisolone (escalated BEACOPP), she experienced full recovery of all neurological and ophthalmological symptoms. She experienced complete remission without any signs of relapse at follow-up after 2.5 years. Paraneoplastic cerebellar degeneration (PCD) related to HL have been described as a rare neurological syndrome, with varying neurological symptoms preceding the diagnosis of HL. PCD is typically associated with anti-Tr antibodies. Despite being negative for anti-Tr antibodies in both serum and cerebrospinal fluid (CSF), the neuro-ophthalmologic symptoms were interpreted as a paraneoplastic phenomenon in HL resembling PCD. The exact pathophysiology in this case is unknown but might be associated with undetected antigens and T-cell-mediated autoimmunity because of the presence of non-malignant T-cells in the CSF. Conclusions: This manuscript describes a case of an atypical presentation of HL with neuro-ophthalmologic symptoms which fully recovered upon anti-lymphoma treatment. Because of the good prognosis, we aim to emphasize the awareness of rare cases of HL initially presenting such manifestations to avoid diagnostic delays. Full article

Background: Non-arteritic anterior ischemic optic neuropathy (NAION) is a neuroophthalmological disorder characterized by impaired blood flow to the optic nerve head. There is uncertainty about whether, in some cases, NAION may be caused by proximal embolism of the posterior ciliary arteries. Diffusion-weighted magnetic resonance imaging (DWI-MRI) can provide evidence of concurrent cerebral infarction that may indicate a common embolic etiology. Methods: Adults with ophthalmological diagnosis of NAION who underwent cerebral DWI-MRI within 14 days from onset of visual impairment were included in a retrospective cohort study (2013–2021). DWI-MRI images were assessed for presence, location, and type of ischemic stroke by a board-certified neuroradiologist blinded for clinical patient data. Results: Among 122 patients (mean age 64.6 ± 11.9 years), DWI-MRI indicated acute/subacute ischemic stroke in three cases (2.5%), all located within the anterior circulation in the territory of the left middle cerebral artery and ipsilateral to the affected eye in two cases (1.6%). Ischemic stroke location was cortical in one case (0.8%) and subcortical in two cases (1.6%). Acute ischemic stroke indicated by a hyperintense DWI signal and corresponding low ADC was present in one patient (0.8%). Two patients (1.6%) had subacute ischemic stroke (hyperintense DWI signal and normal or elevated ADC signal). Only one NAION patient (0.8%) had acute embolic stroke corresponding to the vascular territory of the affected eye. Conclusions: Concurrent embolic ischemic stroke in NAION is exceedingly rare. Our findings support the prevailing pathophysiological theory of NAION as a non-embolic disease. Full article

Systemic lupus erythematosus (SLE) is a chronic multisystem autoimmune disorder in which ocular involvement represents a clinically significant yet frequently underrecognized contributor to morbidity. Ocular manifestations in SLE may arise from disease activity itself, but also as adverse effects of long-term pharmacological therapy. With the advent of targeted immunomodulatory agents, the therapeutic landscape of SLE has expanded beyond conventional drugs such as hydroxychloroquine and corticosteroids toward biologics and small molecules designed to interfere with specific immunological pathways. These advances have improved systemic disease control and survival; however, their ophthalmological safety profiles remain only partially defined. This review synthesizes current evidence on ocular adverse events associated with both traditional and emerging SLE therapies. Established agents, particularly hydroxychloroquine and corticosteroids, are consistently linked to complications including retinopathy, posterior subcapsular cataracts, steroid-induced glaucoma, and central serous chorioretinopathy. In contrast, recently approved or investigational therapies—such as belimumab, anifrolumab, voclosporin, dual BAFF/APRIL inhibitors, rituximab, JAK inhibitors, CD40/CD40L blockade, CD38 inhibition, and mesenchymal stromal cell-based strategies—have limited but evolving safety data, with potential ocular adverse events spanning inflammatory, vascular, neuro-ophthalmic, and structural domains. Although ocular complications appear infrequent in clinical trials, underdetection in real-world practice and insufficient long-term monitoring may underestimate their true incidence. These findings highlight the need for systematic ophthalmological surveillance in patients receiving immunomodulatory therapies for SLE. Early recognition and timely management of ocular toxicity are crucial to safeguarding visual function and optimizing long-term therapeutic outcomes in this vulnerable patient population. Full article

Optical coherence tomography (OCT) is a non-invasive imaging tool that is currently used in the evaluation and management of neuro-ophthalmic disorders. The detailed ability to visualize the optic nerve head, peripapillary retinal nerve fiber layer, and the macula, including the ganglion cell layer, allows for both qualitative and quantitative analysis of optic nerve diseases. This review covers the technical aspects of OCT and related imaging techniques in neuro-ophthalmology and discusses its use in common optic nerve head diseases such as optic disc drusen, optic disc coloboma, and elevated intracranial pressure. It also explores emerging OCT angiography applications in these disorders. Full article

Cataracts are one of the leading causes of vision loss in dogs, significantly impairing their quality of life and visual behavior. Phacoemulsification, followed by intraocular lens (IOL) implantation, is currently the gold standard for visual rehabilitation. This non-randomized clinical study included 60 dogs (120 eyes)of various breeds, ages, and sizes, diagnosed with cataracts of different etiologies and degrees of evolution (incipient, mature, hypermature, and intumescent). Postoperative visual function was assessed using conventional neuro-ophthalmologic tests (menace response, cotton ball test, maze navigation) and a custom-designed visual scoring scale developed by the authors to objectively quantify functional recovery. The bimanual technique (Phaco 2) showed slightly shorter surgical times than the monomanual approach (Phaco 1), with significant differences during the capsulorhexis (T1) and IOL implantation (T4) phases (p < 0.05). Postoperative inflammation was mild and transient, with no IOL decentration or posterior capsule opacification observed over 60 days. Visual function improved progressively, with 79.2% (95/120 eyes) reaching functional vision by two months and mean recovery exceeding 90%of normal by day 30. Both techniques provided favorable short-term outcomes for canine cataract extraction, with outcomes mainly influenced by cataract type and lens consistency. The proposed visual scoring system represents a preliminary clinical tool that may support standardized evaluation of postoperative vision in dogs. The results highlight the importance of ongoing refinement in surgical training and the standardization of phacoemulsification protocols to improve reproducibility and long-term outcomes in veterinary ophthalmology. Full article

Age-related macular degeneration (AMD) is a leading cause of irreversible blindness, yet current tools for forecasting treatment outcomes remain limited by either the opacity of deep learning or the rigidity of rule-based systems. To address this gap, we propose a hybrid neuro-symbolic and large language model (LLM) framework that combines mechanistic disease knowledge with multimodal ophthalmic data for explainable AMD treatment prognosis. In a pilot cohort of ten surgically managed AMD patients (six men, four women; mean age 67.8 ± 6.3 years), we collected 30 structured clinical documents and 100 paired imaging series (optical coherence tomography, fundus fluorescein angiography, scanning laser ophthalmoscopy, and ocular/superficial B-scan ultrasonography). Texts were semantically annotated and mapped to standardized ontologies, while images underwent rigorous DICOM-based quality control, lesion segmentation, and quantitative biomarker extraction. A domain-specific ophthalmic knowledge graph encoded causal disease and treatment relationships, enabling neuro-symbolic reasoning to constrain and guide neural feature learning. An LLM fine-tuned on ophthalmology literature and electronic health records ingested structured biomarkers and longitudinal clinical narratives through multimodal clinical-profile prompts, producing natural-language risk explanations with explicit evidence citations. On an independent test set, the hybrid model achieved AUROC 0.94 ± 0.03, AUPRC 0.92 ± 0.04, and a Brier score of 0.07, significantly outperforming purely neural and classical Cox regression baselines (p ≤ 0.01). Explainability metrics showed that >85% of predictions were supported by high-confidence knowledge-graph rules, and >90% of generated narratives accurately cited key biomarkers. A detailed case study demonstrated real-time, individualized risk stratification—for example, predicting an >70% probability of requiring three or more anti-VEGF injections within 12 months and a ~45% risk of chronic macular edema if therapy lapsed—with predictions matching the observed clinical course. These results highlight the framework’s ability to integrate multimodal evidence, provide transparent causal reasoning, and support personalized treatment planning. While limited by single-center scope and short-term follow-up, this work establishes a scalable, privacy-aware, and regulator-ready template for explainable, next-generation decision support in AMD management, with potential for expansion to larger, device-diverse cohorts and other complex retinal diseases. Full article

The gene SPG7 codes for the protein paraplegin, a subunit of the m-AAA protease in the inner mitochondrial membrane involved in protein quality control. SPG7 was initially identified as causing autosomal recessive hereditary spastic paraplegia (HSP), with a pure (insidiously progressive bilateral leg weakness and spasticity) and complex (with additional neurologic features including cerebellar signs and optic atrophy) forms. Now identified as one of the most common causes of HSP, SPG7-associated disease has been linked to additional neuro-ophthalmologic features, including isolated dominant optic atrophy, cerebellar eye signs (various forms of nystagmus, dysmetric saccades), progressive external ophthalmoplegia (PEO), and supranuclear vertical palsy. This review describes in detail the various neuro-ophthalmologic presentations of SPG7-associated disease, illustrating the role of mitochondrial dysfunction in the pathophysiology of these different entities. Knowledge of the different manifestations of SPG7-associated disease is crucial for both neurologists and ophthalmologists, and SPG7 should be considered in the work-up of patients presenting with entities such as optic atrophy, PEO, and cerebellar eye signs. Full article

Background: Fulminant idiopathic intracranial hypertension (IIH) is a rare and vision-threatening variant of IIH, characterized by rapid visual deterioration and a high risk of irreversible blindness. Urgent intervention is required to prevent permanent optic nerve damage. Cerebral transverse venous stenting (CTVS) has emerged as an effective treatment for medically refractory IIH, but data on its use in fulminant cases remain limited. Methods: A retrospective consecutive cohort study was conducted at a tertiary center and included all patients with fulminant IIH diagnosed by modified Dandy criteria, with bilateral transverse sinus stenosis > 50% and a trans-stenotic pressure gradient ≥ 8 mmHg on venography. Before stenting, patients received high-dose acetazolamide (up to 3000 mg/day) and IV methylprednisolone (1000 mg/day × 3). Neuro-ophthalmic assessment included BCVA, Ishihara color vision, pupillary exam, disc edema grading, Humphrey visual fields, and optical coherence tomography (OCT). Follow-up occurred at baseline (admission), 1 week, 1 month, 3 months, and 12 months. Results: Five young female patients underwent successful CTVS without peri- or post-procedural complications. Significant improvement in headache and stabilization or recovery of visual function were observed in all patients. OCT revealed early retinal nerve fiber layer thinning within one week, preceding clinical resolution of papilledema. Conclusions: Emergent CTVS appears to be a safe and effective vision-preserving procedure in fulminant IIH, offering rapid intracranial pressure reduction and early neuro-ophthalmologic improvement. OCT may serve as a useful early predictor of treatment success, supporting its role in post-procedural monitoring. Larger prospective studies are warranted. Full article

Background/Objectives: Sturge–Weber syndrome (SWS) is a rare neuro-oculocutaneous disorder characterized by leptomeningeal angioma, naevus flammeus, and ocular manifestations, including diffuse choroidal hemangioma (DCH). This study compares the diagnostic performance of near-infrared reflectance (NIR) imaging and enhanced depth imaging spectral-domain optical coherence tomography (EDI-SDOCT) with fundus photography in detecting DCH. Methods: Seventeen patients with SWS underwent comprehensive ophthalmologic evaluation, including fundus photography, NIR, and EDI-SDOCT imaging. Sensitivity, specificity, and accuracy of fundus photography, NIR, and EDI-SDOCT were calculated. Results: Sixteen patients had evaluable data. DCH was identified by fundus photography in five (31%), NIR in three (18.75%), and EDI-SDOCT in fourteen patients (87.50%). EDI-SDOCT alone demonstrated 100% sensitivity and 100% accuracy, outperforming both NIR (21.4% sensitivity; 31.6% accuracy) and fundus photography (35.7% sensitivity; 43.8% accuracy). When positive findings on NIR and/or SDOCT were combined, sensitivity and accuracy reached 100%. EDI-SDOCT provided detailed morphologic visualization of the choroid, allowing for early diagnosis of DCH even in pediatric cases with limited patient cooperation. Conclusions: EDI-SDOCT significantly improves the detection of DCH in SWS compared with fundus photography and NIR. Given its superior sensitivity and accuracy, incorporating EDI-SDOCT into routine clinical assessment may enable earlier diagnosis and reduce retinal complications in SWS. Full article