Idiopathic intracranial hypertension (IIH) is a neurological disease, characterized by increased intracranial pressure and papilledema, and often associated with headache, transient loss of vision and pulsatile tinnitus. IIH typically occurs in women of childbearing age. Over 90.0% of patients are with obesity or over weighted. Loss of sensory visual function is the major morbidity associated with IIH and some patients even develop into blindness. Most patients will have varied degrees of visual impairment, or even a few become blind. Frisén grading system, visual field examination and spectral-domain optical coherence tomography can be used to evaluate and monitor the IIH papilledema functionally and morphologically. In recent years, IIH treatment trials in other countries confirmed that, weight loss and low-salt diet combined with acetazolamide treatment has a clear improvement for IIH patients with mild visual impairment. In-depth understanding of the etiology, clinical manifestations, diagnostic criteria and the main treatment has important clinical significance for IIH patients
Infectious and infection-related optic neuritis is an important type of optic neuritis. Infectious optic neuritis is caused by direct spread of pathogenic organism to optic nerve from local infection or blood transmission. Infection-related optic neuritis is caused by pathogens-induced immune allergic reaction. They present with atypical clinical features of optic neuritis, including progressive vision loss, persistent eye pain or headache, ineffectiveness or even worse of glucocorticoid therapy. Fundus manifestations include optic disc swelling with peripapillary hemorrhage or neuro-retinitis, and the feature of concurrent uveitis. When these patients first visit ophthalmic clinics, they often lack signs of systemic infection, thus it is easy to misdiagnose them as other types of optic neuropathy and mistakenly treat them. In particular, high-dose glucocorticoid therapy can lead to very serious consequences. Therefore, how to correctly diagnose infectious and infection-related optic neuritis in the early stages are very important for ophthalmologists and need to be seriously kept in our mind.
Commonly clinical visual electrophysiological detection methods include flash ERG, pattern ERG, VEP and multifocal ERG, etc. These inspection methods play an important role in disease identification and visual function judgment. However, lacking of understand the basic principles of electrophysiological testing, misunderstandings of the clinician influence the choice of examination methods or interpretation of examination results. The understanding of the basic principles of electrophysiological testing and analysis of the causes of these misunderstandings have important clinical significance in the correct application of visual electrophysiological testing technology.
Optic nerve glioma (ONG) is a rare central nervous system tumor that occurs in children and adolescents. It’s main pathological type is low-grade pilocytic astrocytoma. It is divided into sporadic ONG and neurofibromatosis type 1 (NF-1) related ONG. Due to the close relationship between ONG and the optic nerve, there is its particularity in diagnosis and treatment. The diagnosis of ONG mainly relies on medical history, symptoms and signs, as well as imaging examinations such as MRI and CT. ONG should be differentiated from optic nerve sheath meningioma, optic neuritis, optic nerve metastasis and other diseases. In recent years, newly discovered molecular targeted therapy and anti-vascular endothelial growth factor drugs are a powerful supplement to ONG. When chemotherapy is not sensitive or resistant, radiotherapy can be considered, but it is only recommended for patients over 7 years of age. Surgery can be considered when the patient’s visual impairment is severe and the appearance of the eye is significantly affected. In addition, due to the susceptibility of NF-1 patients to tumors, the chemotherapy regimen should take into account the risk of secondary leukemia caused by the drug, and the timing of radiotherapy should be after the age of 10. We look forward to further ONG clinical research, which will bring more references for future clinical work.
Optic nerve sheath meningiomas (ONSM) account for about 1%-2% of all meningiomas. Most of them are benign and the disease progresses slowly. ONSM is a relatively rare intraorbital benign tumor in clinical practice. Due to its close relationship with the optic nerve, the diagnosis and treatment are special, so there are many controversies and misunderstandings in the diagnosis and treatment of ONSM. ONSM is often misdiagnosed as acute optic nerve papillitis, optic nerve atrophy, ischemic optic neuropathy, acute retrobolic optic neuritis, optic disc vasculitis or optic fatigue due to its similar clinical features to other optic nerve diseases such as optic neuritis. The treatment includes observation, surgical treatment and radiotherapy, and appropriate treatment should be selected for different patients according to the changes of their condition. Therefore, understanding of the controversies and misunderstandings in the diagnosis and treatment of ONSM is of great clinical significance for timely and accurate diagnosis, appropriate treatment and improvement of the prognosis of patients.
Leber's hereditary optic neuropathy (LHON) is a rare hereditary optic nerve disease. At present, the understanding of its etiology and pathogenesis is relatively clear. With the emergence of new drugs such as idebenone and the possibility of gene therapy for LHON, it has brought hope for patients to recover. However, because genetic testing technology has not been widely developed in China, clinical misdiagnosis of LHON as optic neuritis still occurs from time to time. How to make timely identification and correct diagnosis of LHON still poses certain challenges for Chinese ophthalmologists. In addition, in terms of treatment, the choice of treatment methods and treatment costs in the pre-onset (gene mutation carriers) and different periods after the onset of LHON are also huge challenges for patients and their families.
Autoimmune retinopathy (AIR) is an umbrella term for a group of rare autoimmune retinal degenerative disease presumably caused by cross-reactivity of serum autoantibodies directed against ratinal antigens, and include cancer-associated retinopathy, melanoma-associated retinopathy and non-paraneoplastic autoimmune retinopathy. Common feature of AIR include progressively painless vision loss with abnormal electrophysiology responses associated with positive anti-retinal antibodies. They present a clinical diagnosis challenge on account of the rare incidence, unobvious clinical symptoms and lack of specific and sensitive biological markers. Early diagnosis and treatment may play a critical role to avoid the irreversible immunological retinal damage.
Neuromyelitis optica spectrum disorders (NMOSDs) are a class of immune-mediated inflammatory demyelinating diseases of the central nervous system that mainly involve the optic nerve and spinal cord. As an important environmental factor, the gut microbiota may play an important role in the occurrence and development of NMOSDs. Previous studies have shown that the structure and number of intestinal flora in NMOSDs patients are different from those of normal healthy people. The altered intestinal flora may cross-react with central nervous system autoantigens, induce T cell differentiation, and affect short-chain fatty acids, etc. The metabolite secretion pathway triggers the occurrence of NMOSDs. The summary of the changes of gut microbiota in patients with NMOSDs and the possible underlying mechanisms by summarizing the literature, aim to provide more effective treatments for the prevention and treatment of NMOSDs in the future.
Tumor immunotherapy includes immune checkpoint inhibitor (ICI), tumor vaccines, and adoptive cell therapy. Immunotherapy, as the main systemic treatment for advanced malignant tumors, kills tumor cells by activating the immune system and prolongs the survival of patients. However, excessive immune responses can cause immune-related adverse events (irAE), causing damage to systemic tissues. ICI are the main tumor immunotherapy drugs that cause optic nerve irAE. The most common optic nerve irAE are optic neuritis, only a few patients appeared arteritic anterior ischemic optic neuropathy. Sudden painless loss of bilateral vision is the most common clinical manifestation. In severe cases, the vision decrease to no light perception. Early diagnosis and early adequate glucocorticoid treatment can improve the symptoms. Therefore, neuro-ophthalmologists and oncologists should know the clinical characteristics of optic nerve irAE, in order to diagnose and treat early and improve the prognosis.
Mutations in optic atrophy (OPA) genes can lead to a similar phenotype, namely optic atrophy, which can manifest as isolated optic atrophy or be accompanied by other systemic symptoms, mostly related to the nervous system. Currently, a total of 13 OPA genes have been discovered, covering a variety of inheritance patterns, including chromosomal dominant inheritance, autosomal recessive inheritance, and X-linked inheritance. Through genetic testing and analysis of patients, it is possible to accurately determine whether they carry mutation genes related to optic atrophy, and predict the progression of the disease and potential complications accordingly. This not only provides valuable genetic counseling and fertility planning guidance for patients and their families, but also helps better understand the disease, discover new therapeutic targets, and lay the foundation for developing more precise and effective drugs or gene therapies in the future.