Neuro-Ophthalmology最新文献

Transorbital Neuro Endoscopic Surgery (TONES) stands at the forefront of neurosurgical innovation, providing a transformative approach for accessing intricate intracranial vascular lesions within the orbit. The versatility of TONES extends beyond orbital confines, reaching into challenging territories such as the anterior cranial fossa, making it a promising option for lesions extending into the orbital region. This review explores the historical evolution, technical intricacies, and clinical applications of TONES, emphasizing its role in managing vascular lesions. The genesis of TONES aimed to overcome limitations inherent to traditional surgical approaches, offering equivalent visibility while minimizing invasiveness and complications associated with open skull base surgery. Introduced in 2007 by Moe, TONES has evolved into a minimally invasive access corridor, expanding the horizons of neurosurgery through refined instrumentation and advanced surgical techniques. In the context of intracranial vascular lesions, particularly arteriovenous malformations and cerebral cavernomas, TONES exhibits advantages over conventional methods. Its minimally invasive nature, reduced morbidity, and superior cosmetic outcomes position it as a viable alternative. However, meticulous planning, coordination, and adherence to sterile protocols are imperative. Preoperative imaging, intraoperative navigation, and customized bone defects tailored to lesion specifics contribute to procedural success. Complications associated with TONES procedures demand systematic categorization for proactive risk mitigation. From eyelid necrosis to trigeminal hypoesthesia, anticipating and addressing potential pitfalls require a multifaceted approach. Meticulous dissection techniques, intraoperative monitoring, and postoperative assessments are crucial components of risk reduction. In conclusion, TONES represents a paradigm shift in neurosurgical approaches to intracranial vascular lesions, showcasing its adaptability and precision.

Optic neuritis can be an early sign of demyelinating diseases like multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody-associated diseases (MOGAD). We investigated the presence or absence of head and spinal cord lesions on magnetic resonance imaging (MRI) and assessed whether cerebrospinal fluid (CSF) tests are useful in detecting demyelinating disease in patients with first diagnosed optic neuritis. We conducted a retrospective study of 111 patients (47 idiopathic, 19 NMOSD, 16 MOGAD, 16 MS, 6 optic neuritis with cerebral lesions but that does not meet the McDonald's criteria for MS (ON+)), and 7 chronic relapsing inflammatory optic neuropathy) diagnosed with optic neuritis without cerebral or spinal symptoms. Patients underwent evaluations including orbital, head, and spine MRI, along with CSF analysis. Among the 111 patients, 20 (35.1%: 4 NMOSD, 4 MOGAD, 7 MS, and 6 ON+) exhibited intracerebral or spinal cord lesions. Twelve patients showed findings on both orbital and head MRI, while six had no orbital MRI findings except for optic neuritis but exhibited lesions on head MRI. Five patients had spinal lesions without intracerebral lesions. CSF analysis revealed positive oligoclonal bands and elevated myelin basic protein levels indicate the high likelihood with systemic inflammatory demyelinating diseases. Even in the absence of concomitant encephalitis or myelitis symptoms or a history of these conditions, MRI images of patients with optic neuritis sometimes reveal lesions in the brain or spinal cord. CSF abnormalities were indicative of systemic demyelinating disease presence, extending beyond MS to NMOSD and MOGAD.

One-and-a-half syndrome (OAHS) is characterized by ipsilateral conjugate horizontal gaze palsy and internuclear ophthalmoplegia. We report a case of a 24-year-old gentleman who presented with a complaint of binocular diplopia, with limitation of extraocular movements. There was gaze-evoked nystagmus on attempted abduction in the right eye and down-beating nystagmus on downgaze. MRI brain showed well-defined homogeneously enhancing mass lesion in the fourth ventricle, which was surgically managed, and histopathology showed choroid plexus papilloma. This is a rare case report of Choroidal plexus papilloma causing OAHS.

Ischemic optic neuropathy is a severe condition causing perioperative visual loss that may occur after a wide range of non-ocular surgeries, including liposuction. Several cases of non-arteritic anterior ischemic optic neuropathy (NAION) as a complication of liposuction have been published. Most have features in common such as anemia and altitudinal visual field defects. We report a case of incipient NAION in one eye and established NAION in the fellow eye after abdominoplasty, mastopexy, and large-volume liposuction, which complicated with anemia, but visual function recovered.

The occurrence of Leber Hereditary Optic Neuropathy in association with dystonia is exceedingly rare. There have been only a few previously reported cases describing this clinical phenotype with the mitochondrial DNA 14459 G>A/ND6 mutation. This mutation has been described to also manifest as isolated Leber Hereditary Optic Neuropathy or Leigh Syndrome/Leigh-like Syndrome in a very small number of patients. We report the case of a 27-year-old female who presented with bilateral sequential optic neuropathy on a background of non-familial generalized dystonia. Magnetic resonance imaging performed during childhood had shown bilateral high signal changes in the basal ganglia. Extensive testing for a possible autoimmune etiology was unrevealing. Her vision did not improve with aggressive steroid and plasma exchange treatment. Targeted genetic testing revealed a mitochondrial DNA 14459 G>A/ND6 mutation. Genetic analysis for the mitochondrial DNA 14459 G>A/ND6 mutation should be tested in a patient presenting with bilateral sequential optic neuropathy with co-morbid dystonia.

Idiopathic epilepsy (IE), is a group of epileptic syndromes with no structural brain lesion, but with microstructural changes in neuronal networks leading to neuropsychological consequences. Therefore, the assessment of saccadic eye movements can provide insight into the integrity of cerebral networks as it involves large cortical and subcortical brain areas and circuitries. Describe saccadic eye movement abnormalities in patients with IE and correlate them with disease characteristics and antiseizure medication. Case-control study including IE patients followed in the Neurology Department of Razi University Hospital and healthy controls matched. Participants underwent a recording of saccadic eye movements. Pursuit, prosaccade, and anti-saccade tasks were performed. 115 patients and 98 matched healthy controls were included. The gender ratio (male to female) was 0.6. The mean age at onset was 16.3 ± 12 years. Diagnosed epileptic syndromes were juvenile myoclonic epilepsy (JME), epilepsy with generalized tonic-clonic seizures, childhood absence epilepsy, temporal lobe epilepsy, frontal lobe epilepsy, and rolandic epilepsy. Saccadic eye movements were impaired in 52.2% of our patients and significantly more altered in those with JME (p = .021). Prolonged horizontal saccades latencies were the most frequent eye movement abnormalities (32.1%), followed by altered horizontal smooth pursuit (22.6%). A positive correlation was found between age at eye movements recording, age at onset, disease duration, global cognitive impairment, and saccadic eye movements. However, no definite relationship was identified. Saccadic eye movement illustrates extending anatomic alterations in IE including frontal and temporoparietal cortical areas and cortico-subcortical circuits. Eye movement recording is a useful and reproducible tool in the assessment of epileptic patients and provides a better understanding of neuronal mechanisms in epilepsy.

Nonarteritic anterior ischemic optic neuropathy (NA-AION) is the most common form of acute painless, usually unilateral, optic neuropathy in the elderly population. Systemic risk factors include diabetes mellitus, arterial hypertension, sleep apnea syndrome, and cardiovascular disease. Α 52-year-old man developed sequential, bilateral NA-AION, involving a worsening, severe vision compromising attack in the secondly affected eye. Thrombophilia testing revealed compound heterozygosity for the C6777T mutation of the MTHFR gene and the prothrombin G20210A (FII mutation). Oral anticoagulation treatment was initiated. A thorough systemic and family history, especially in the absence of major vasculopathic disease, should alert toward investigation for thrombophilia in middle-aged patients with atypical forms of NA-AION and initiation of anticoagulant treatment should be considered.

Diffuse intrinsic pontine glioma (DIPG) is a rare aggressive brainstem lesion, affecting mainly young children. This report describes sixth cranial nerve palsy as the initial ophthalmic presentation in children with this pathology. Case series and literature review. All children presented with sixth nerve palsy were consecutively recruited from the pediatric clinic at the East Sussex NHS Healthcare Trust within the last 10 years. Full ophthalmic examination, orthoptic assessment, and refraction check were done in three patients. Magnetic Resonance Imaging was carried out using 1.5 Tesla (Siemens Symphony, Erlangen, Germany) to establish the diagnosis. The patients' age ranged from 5 to 14 years at the time of presentation. All presented with sudden onset esotropia and limited abduction, suggestive of presence of sixth nerve palsy, requiring urgent medical attention. On detailed questioning and assessment, all children showed various neurological symptoms including nystagmus, liquid dysphagia, balance problems, and nocturnal enuresis. Two out of three patients died within 7 months following diagnosis. Sudden onset esotropia, especially due to sixth nerve palsy in children, should be considered a red flag symptom, prompting proper urgent specialist assessment. Sixth nerve palsy in patients with DIPG was associated with severely reduced life expectancy in this case series of three patients, shorter than in reported non-ophthalmic presentations.

We describe a case of unilateral sectoral pigmentation of the optic disc in a healthy 58‑year‑old female who presented with decreased vision and visual field defect in the involved eye since childhood. The patient was initially diagnosed with melanocytoma of the optic nerve given the suggestive clinical appearance. Thorough assessment with magnetic resonance imaging studies, laboratory work-ups and ophthalmic examination indicated that the pigmentation was linked to optic nerve hypoplasia.