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International Journal of Molecular... Aug 2022Optic neuritis (ON) is an inflammatory condition involving the optic nerve. Several important typical and atypical ON variants are now recognized. Typical ON has a more... (Review)
Review
Optic neuritis (ON) is an inflammatory condition involving the optic nerve. Several important typical and atypical ON variants are now recognized. Typical ON has a more favorable prognosis; it can be idiopathic or represent an early manifestation of demyelinating diseases, mostly multiple sclerosis (MS). The atypical spectrum includes entities such as antibody-driven ON associated with neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody disease (MOGAD), chronic/relapsing inflammatory optic neuropathy (CRION), and sarcoidosis-associated ON. Appropriate and timely diagnosis is essential to rapidly decide on the appropriate treatment, maximize visual recovery, and minimize recurrences. This review paper aims at presenting the currently available state-of-the-art treatment strategies for typical and atypical ON, both in the acute phase and in the long-term. Moreover, emerging therapeutic approaches and novel steps in the direction of achieving remyelination are discussed.
Topics: Aquaporin 4; Autoantibodies; Humans; Myelin-Oligodendrocyte Glycoprotein; Neuromyelitis Optica; Optic Neuritis; Secondary Prevention
PubMed: 36077167
DOI: 10.3390/ijms23179769 -
Acta Ophthalmologica Aug 2015Toxic optic neuropathy (TON) is caused by the damage to the optic nerve through different toxins, including drugs, metals, organic solvents, methanol and carbon dioxide.... (Review)
Review
Toxic optic neuropathy (TON) is caused by the damage to the optic nerve through different toxins, including drugs, metals, organic solvents, methanol and carbon dioxide. A similar clinical picture may also be caused by nutritional deficits, including B vitamins, folic acid and proteins with sulphur-containing amino acids. This review summarizes the present knowledge on disease-causing factors, clinical presentation, diagnostics and treatment in TON. It discusses in detail known and hypothesized relations between drugs, including tuberculostatic drugs, antimicrobial agents, antiepileptic drugs, antiarrhythmic drugs, disulfiram, halogenated hydroquinolones, antimetabolites, tamoxifen and phosphodiesterase type 5 inhibitors and optic neuropathy.
Topics: Drug-Related Side Effects and Adverse Reactions; Humans; Optic Nerve; Optic Nerve Diseases; Pharmaceutical Preparations
PubMed: 25159832
DOI: 10.1111/aos.12515 -
Journal Francais D'ophtalmologie Sep 2020Glaucoma is a blinding optic neuropathy, the main risk factor for which is increased intraocular pressure (IOP). The trabecular meshwork, located within the iridocorneal... (Review)
Review
Glaucoma is a blinding optic neuropathy, the main risk factor for which is increased intraocular pressure (IOP). The trabecular meshwork, located within the iridocorneal angle, is the main pathway for drainage of aqueous humor (AH) out of the eye, and its dysfunction is responsible for the IOP elevation. The trabecular meshwork is a complex, fenestrated, three-dimensional structure composed of trabecular meshwork cells (TMC) interdigitated into a multilayered organization within the extracellular matrix (ECM). The purpose of this literature review is to provide an overview of current understanding of the trabecular meshwork and its pathophysiology in glaucoma. Thus, we will present the main anatomical and cellular bases for the regulation of aqueous humor outflow resistance, the pathophysiological mechanisms involved in trabecular dysfunction in the various types of glaucoma, as well as current and future therapeutic strategies targeting the trabecular meshwork.
Topics: Aqueous Humor; Glaucoma; Humans; Intraocular Pressure; Optic Nerve Diseases; Trabecular Meshwork; Trabeculectomy
PubMed: 32561029
DOI: 10.1016/j.jfo.2020.05.002 -
Acta Ophthalmologica Dec 2020In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the...
PURPOSE
In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clinical management.
METHODS
We studied 100 non-syndromic and syndromic Spanish patients with a clinical diagnosis of blindness caused by alterations on the retina, choroid, vitreous and/or optic nerve. We used a next-generation sequencing (NGS) panel (OFTALMOgenics™), developed and validated within this study, including up to 362 genes previously associated with these conditions.
RESULTS
We identified the genetic cause of blindness in 45% of patients (45/100). A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had been overlooked and/or not related to visual impairment before genetic testing, including cases with Mainzer-Saldino, Bardet-Biedl, mucolipidosis and MLCRD syndromes. In two additional cases-syndromic blindness had been proposed before, but not specifically diagnosed, and one patient with Heimler syndrome had been misdiagnosed as an Usher case before testing. 33.3% of the genetically diagnosed patients (15/45) had causative variants in genes targeted by clinical trials exploring the curative potential of gene therapy approaches.
CONCLUSION
Comprehensive genomic testing provided clinically relevant insights in a large proportion of blind patients, identifying potential therapeutic opportunities or previously undiagnosed syndromes in 42.2% of the genetically diagnosed cases (19/45).
Topics: Disease Management; Genetic Testing; Genomics; High-Throughput Nucleotide Sequencing; Humans; Optic Nerve Diseases; Pedigree; Phenotype; Retinal Diseases; Syndrome
PubMed: 32483926
DOI: 10.1111/aos.14479 -
Asia-Pacific Journal of Ophthalmology... 2018Almost all optic neuropathies are untreatable, motivating the search for new therapies that address the final common pathway of optic nerve disease, retinal ganglion... (Review)
Review
Almost all optic neuropathies are untreatable, motivating the search for new therapies that address the final common pathway of optic nerve disease, retinal ganglion cell loss. These neuroprotective strategies have been primarily studied in glaucoma, the most common optic neuropathy, but increasing also tested at the laboratory and animal model level in nonglaucomatous optic neuropathies. More recently, several clinical trials, most of which are randomized, have begun to examine whether neuroprotection is efficacious in human optic nerve disease. Many of these trials are reviewed, along with the critical issues in the major areas of optic neuropathy, particularly the site of injury, the mechanism of axonal damage, and disease-specific features relevant to neuroprotection studies.
Topics: Animals; Humans; Neuroprotection; Neuroprotective Agents; Optic Nerve Diseases; Retinal Ganglion Cells
PubMed: 30066502
DOI: 10.22608/APO.2018299 -
Eye (London, England) Jan 2021Optical coherence tomography (OCT) is a non-invasive medical imaging technology that is playing an increasing role in the routine assessment and management of patients... (Review)
Review
Optical coherence tomography (OCT) is a non-invasive medical imaging technology that is playing an increasing role in the routine assessment and management of patients with neuro-ophthalmic conditions. Its ability to characterise the optic nerve head, peripapillary retinal nerve fibre layer and cellular layers of the macula including the ganglion cell layer enables qualitative and quantitative assessment of optic nerve disease. In this review, we discuss technical features of OCT and OCT-based imaging techniques in the neuro-ophthalmic context, potential pitfalls to be aware of, and specific applications in more common neuro-ophthalmic conditions including demyelinating, inflammatory, ischaemic and compressive optic neuropathies, optic disc drusen and raised intracranial pressure. We also review emerging applications of OCT angiography within neuro-ophthalmology.
Topics: Humans; Ophthalmology; Optic Disk; Optic Disk Drusen; Optic Nerve Diseases; Tomography, Optical Coherence
PubMed: 33239763
DOI: 10.1038/s41433-020-01288-x -
International Journal of Environmental... Mar 2022Optic neuropathies constitute a group of conditions with various etiologies and might be caused by different factors; we can distinguish the genetic and acquired causes... (Review)
Review
Optic neuropathies constitute a group of conditions with various etiologies and might be caused by different factors; we can distinguish the genetic and acquired causes of optic neuropathies. Even though the symptoms are not highly specific, this condition is primarily characterized by unilateral or bilateral vision loss with worsening color detection. The loss may be acute or gradual depending on the causation. In this article, we included a specification of toxic optic neuropathy (TON) mainly triggered by alcohol abuse and also the usage of other substances, including drugs or methanol, as well as intoxication by metals, organic solvents, or carbon dioxide. Nutritional deficiencies, vitamin absorption disorder, and anemia, which usually appear during excessive alcohol intake, and their effect on the etiology of the optic neuropathy have been likewise discussed.
Topics: Humans; Malnutrition; Methanol; Optic Nerve; Optic Nerve Diseases; Vision Disorders
PubMed: 35270784
DOI: 10.3390/ijerph19053092 -
The Pan African Medical Journal 2018We report the case of a 37-year old patient with right optic neuropathy. Magnetic resonance imaging (MRI) showed T2 hypersignal in the midline, enhanced after gadolinium...
We report the case of a 37-year old patient with right optic neuropathy. Magnetic resonance imaging (MRI) showed T2 hypersignal in the midline, enhanced after gadolinium injection (figure 1). Cerebrospinal fluid (CSF) analysis revealed lymphocytic meningitis with 64 white blood cells associated with hyperproteinorachy. Chest CT scan suggested the diagnosis of granulomatous inflammation, namely Stage 2 sarcoidosis. The level of serum angiotensin-converting enzyme (ACE) was high. The patient underwent corticosteroid therapy with good outcome. Sarcoidosis is a granulomatous diffuse, multisystemic disorder of unknown etiology. Neurologic sarcoidosis occurs in 5-15% of cases and neurologic symptoms suggest it in 10-30% of cases. Meningoencephalitis and cranial nerve involvement are the most common cliniconeurological manifestations, that are very varied. Facial nerve is the most common nerve to be affected, followed by the optic nerve. Brain MRI can better identify brain lesions, manifesting as infiltrating nodules in T1-weighted hyposignal and in T2-weighted hypersignal enhanced after contrast injection. It mainly affects the suprasellar region with involvement of the hypothalamus, the pituitary peduncle and the optic chiasm. Other anomalies are easily identified by gadolinium contrast agent, including diffuse or nodular thickening of the leptomeninges manifesting as pachymeningitis and lesions in the brain parenchyma (parietal, frontal, cerebellar regions) or in the spinal cord. The diagnosis is based on combination of clinical, radiological, laboratory tests and on histological data. Treatment is based on corticotherapy as first-line therapy sometimes associated with immunosuppressants.
Topics: Adrenal Cortex Hormones; Adult; Central Nervous System Diseases; Contrast Media; Humans; Magnetic Resonance Imaging; Male; Optic Nerve Diseases; Peptidyl-Dipeptidase A; Sarcoidosis; Tomography, X-Ray Computed
PubMed: 30344851
DOI: 10.11604/pamj.2018.30.67.15632 -
International Journal of Molecular... Apr 2023Processes that damage the optic nerve, including elevated intraocular pressure, trauma, ischemia, and compression, often cause visual loss for which there is no current...
Processes that damage the optic nerve, including elevated intraocular pressure, trauma, ischemia, and compression, often cause visual loss for which there is no current treatment [...].
Topics: Humans; Optic Nerve Diseases; Optic Nerve; Glaucoma; Vision Disorders; Pressure; Intraocular Pressure
PubMed: 37108140
DOI: 10.3390/ijms24086977 -
Asia-Pacific Journal of Ophthalmology... 2018The etiologies of optic neuropathy include inflammation, ischemia, toxic and metabolic injury, genetic disease, and trauma. There is little controversy over the practice... (Review)
Review
The etiologies of optic neuropathy include inflammation, ischemia, toxic and metabolic injury, genetic disease, and trauma. There is little controversy over the practice of using steroids in the treatment of optic neuritis--it is well established that intravenous steroid treatment can speed visual recovery but does not alter final visual function. However, there is controversy surrounding the acceptable routes of administration, dosage, and course of treatment. Additionally, the typical patient with optic neuritis is young and otherwise healthy, and thus is likely to tolerate steroids well. In ischemic and traumatic causes of optic neuropathies, the initial injury is not inflammatory, but damage may be compounded by secondary injury due to resultant inflammation and swelling in the confined space of the optic canal. Steroids have been considered as a means of minimizing inflammation and swelling, and thus minimizing the secondary injury that results. However, the use of steroids in traumatic and ischemic optic neuropathies is highly controversial-the evidence for the efficacy of treatment with steroids is insufficient to show that there is significant benefit. Additionally, patients with these conditions are more likely to have comorbidities that make them vulnerable to significant adverse events with the use of steroids. In this article, we attempt to analyze the current state of the literature regarding the use of steroids in the treatment of optic neuropathies, specifically optic neuritis, nonarteritic anterior ischemic optic neuropathy, and traumatic optic neuropathy.
Topics: Glucocorticoids; Humans; Optic Nerve Diseases; Visual Acuity
PubMed: 29962119
DOI: 10.22608/APO.2018127