Neuro-Ophthalmology最新文献

Familial amyloid polyneuropathy is a rare autosomal dominant hereditary disease. Optic nerve involvement is frequently observed secondary to uncontrolled glaucoma but, rarely, an ischaemic optic neuropathy can occur. In this case report we describe a patient who presented with bilateral progressive visual loss and constriction of his visual fields. Fundus examination showed intense paleness of both optic discs with elevated, poorly defined margins that seemed to be infiltrated. Fundus autofluorescence and enhanced-depth imaging optical coherence tomography ruled out the presence of optic disc drusen. Orbital magnetic resonance imaging ruled out any sign of orbital compression, inflammation or infiltration of the optic nerve. The mechanism of small vessel amyloid infiltration and a possible vessel compression by amyloid in the optic nerve head is discussed.

Multiple sclerosis (MS) is an autoimmune demyelinating disease that often initially presents with optic neuritis (ON). Little is known about the demographic factors and familial histories that may be associated with the development of MS after a diagnosis of ON. We utilised a nationwide database to characterise specific potential drivers of MS following ON as well as analyse barriers to healthcare access and utilisation. The All of Us database was queried for all patients who were diagnosed with ON and for all patients diagnosed with MS after an initial diagnosis of ON. Demographic factors, family histories, and survey data were analysed. Multivariable logistic regression was performed to analyse the potential association between these variables of interest with the development of MS following a diagnosis of ON. Out of 369,297 self-enrolled patients, 1,152 were identified to have a diagnosis of ON, while 152 of these patients were diagnosed with MS after ON. ON patients with a family history of obesity were more likely to develop MS (obesity odd ratio: 2.46; p < .01). Over 60% of racial minority ON patients reported concern about affording healthcare compared with 45% of White ON patients (p < .01). We have identified a possible risk factor of developing MS after an initial diagnosis of ON as well as alarming discrepancies in healthcare access and utilisation for minority patients. These findings bring attention to clinical and socioeconomic risk factors for patients that could enable earlier diagnosis and treatment of MS to improve outcomes, particularly in racial minorities.

Optic disc swelling is a manifestation of a broad range of processes affecting the optic nerve head and/or the anterior segment of the optic nerve. Accurately diagnosing optic disc oedema, grading its severity, and recognising its cause, is crucial in order to treat patients in a timely manner and limit vision loss. Some ocular fundus features, in light of a patient's history and visual symptoms, may suggest a specific mechanism or aetiology of the visible disc oedema, but current criteria can at most enable an educated guess as to the most likely cause. In many cases only the clinical evolution and ancillary testing can inform the exact diagnosis. The development of ocular fundus imaging, including colour fundus photography, fluorescein angiography, optical coherence tomography, and multimodal imaging, has provided assistance in quantifying swelling, distinguishing true optic disc oedema from pseudo-optic disc oedema, and differentiating among the numerous causes of acute optic disc oedema. However, the diagnosis of disc oedema is often delayed or not made in busy emergency departments and outpatient neurology clinics. Indeed, most non-eye care providers are not able to accurately perform ocular fundus examination, increasing the risk of diagnostic errors in acute neurological settings. The implementation of non-mydriatic fundus photography and artificial intelligence technology in the diagnostic process addresses these important gaps in clinical practice.

Neurovisual involvement has been reported in a number of patients with severe SARS-CoV-2 disease (COVID-19), mainly among adult patients. In children, such involvement has been reported in rare cases, often in those presenting with severe forms of COVID-19. The aim of this work is to explore the association between mild COVID-19 and neurovisual manifestations. We report the cases of three previously healthy children who developed neurovisual manifestations following mild acute COVID-19, analysing the clinical phenotype, the latency between the onset of acute COVID-19 and neurovisual involvement, and the kinetic of resolution. Our patients developed different clinical patterns, including visual impairment and ophthalmoplegia. In two cases, these clinical features occurred during acute COVID-19, while in the third patient their development was delayed after 10 days from disease onset. Furthermore, the dynamics of resolution were different, with one patient showing remission after 24 hours, the second after 30 days, and the third showing persistence of the strabismus after 2 months of follow-up. The spreading of COVID-19 among the paediatric population will probably lead to an increase of atypical disease forms, including those presenting with neurovisual involvement. Therefore, a better knowledge of the pathogenic and clinical features of these manifestations is warranted.

Giant cell arteritis (GCA) is often categorised as "active" or "healed" on temporal artery biopsy (TAB). The purpose of this study was to compare the initial clinical presentation of patients with GCA according to active versus healed arteritis on TAB. A retrospective chart review was performed for patients with biopsy-proven GCA (BP-GCA) at a single academic medical institution from a previously reported cohort. The arteritis on TAB was categorised as "active" or "healed" based on the pathological reports. Demographic information, clinical presentation, past medical history, and test results were collected from the date of TAB. These baseline characteristics were entered into the GCA Risk Calculator. Of 85 patients with BP-GCA, 80% had active and 20% had healed disease according to histopathology. A higher percentage of those with active arteritis had ischaemic optic neuropathy (ION) (36% versus 6%, p = .03), elevated erythrocyte sedimentation rates (92% versus 63%, p = .01), elevated C-reactive protein levels (79% versus 46%, p = .049), GCA risk score > 7.5% (99% sensitivity, 100% versus 71%, p < .001), higher mean GCA risk calculator scores (neural network p = .001; logistic regression p = .002). Patients with healed arteritis were less likely to have visual manifestations than the active arteritis group (38% versus 71%, p = .04). Patients with active vasculitis on biopsy had higher rates of ION and elevated inflammatory markers, as well as higher predictive scores from the GCA risk calculator. Further research is needed regarding correlation of biopsy findings and risk of complications or relapses.

Retinal complications in patients with inflammatory optic neuritis (ON) are generally related to post-infectious neuroretinitis and are considered uncommon in autoimmune/demyelinating ON, whether isolated or caused by multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD). More recently, however, cases with retinal complications have been reported in subjects positive for myelin oligodendrocyte glycoprotein (MOG) antibodies. We report a 53-year-old woman presenting with severe bilateral ON associated with a focal area of paracentral acute middle maculopathy (PAMM) in one eye. Visual loss recovered remarkably after high-dose intravenous corticosteroid treatment and plasmapheresis, but the PAMM lesion remained visible on both optical coherence tomography and angiography as an ischaemic lesion affecting the middle layers of the retina. The report emphasises the possible occurrence of retinal vascular complications in MOG-related optic neuritis, an important addition to the diagnosis of, and possible differentiation from, MS-related or NMOSD-related ON.

Behçet's disease (BD) is a rare autoimmune disease with an unknown aetiology. It is mostly found in the ancient "silk route" (from the Mediterranean region to the Far East). BD is a vasculitis that can involve veins and arteries of all sizes. Clinical features are dominated by oral and genital aphthous ulcers and uveitis. Central nervous system manifestations include parenchymal (80%) and non-parenchymal involvement (20%). Non-parenchymal forms can include cerebral venous thrombosis. Treatment is based on anti-inflammatory, immunosuppressive and anticoagulant agents, but it remains controversial. We report a rare case of a unilateral jugular being thrombosis revealing BD in a young Moroccan male. He was admitted due to neuro-ophthalmological manifestations (diplopia, and bilateral papilloedema). A good outcome occurred after treatment with anti-inflammatory drugs and anti-coagulation.

The link between polycystic ovarian syndrome (PCOS) and idiopathic intracranial hypertension (IIH) has long been debated. Historically, there is a wide range of reported occurrence of both conditions, being between 15% and 64%. Both conditions share a common phenotype. The awareness that in a new large data study that there is a 1.5-fold increased prevalence of diagnosed PCOS in participants with IIH as compared to the controls is important. Assessment for the potential of co-morbid PCOS in women with IIH is important as this may enable optimisation of weight and fertility management.

We present a case of a 50-year-old female who was diagnosed with an isolated right abducens nerve palsy and was found to have a persistent trigeminal artery (PTA). The trigeminal artery is the most common persistent embryological carotid-vertebrobasilar anastomosis. A PTA can be picked up as an incidental finding on magnetic resonance imaging (MRI) or angiography. It has been reported that a PTA can be found in 0.1 to 0.6% of all cerebral angiograms. PTA has been linked to several rare abnormalities such as vascular aneurysms and cranial nerve compression. Our patient presented with diplopia and was found to have a paresis of the right lateral rectus muscle consistent with a right abducens nerve palsy. MRI found a right-sided PTA indenting the ventral surface of the pons. This case investigates and highlights that neurovascular compression from a PTA can cause an isolated abducens nerve palsy. Further research is required to investigate if surgical intervention for non-aneurysmal PTA would be beneficial for patients.