MODERN APPROACHES TO DIAGNOSTICS AND TREATMENT OF OPTIC NEUROPATHY

Аннотация

Leber optic neuropathy is a genetic disease that causes progressive atrophy of the optic nerve and loss of vision. The pathology occurs when a mutation in mitochondrial DNA occurs, which is transmitted to children through the maternal line. The main symptom of the disease is a sharp decrease in visual acuity from normal to light perception, which most often occurs between the ages of 18 and 30. For diagnosis, ophthalmoscopy, OCT, and visual potential tests are prescribed. The diagnosis can be confirmed using molecular genetic testing. Treatment of Leber neuropathy includes neurometabolic drugs and long-term rehabilitation. Keywords: Causes, Pathogenesis, Symptoms, Complications, Diagnostics, Treatment of Leber's optic neuropathy, Conservative therapy, Experimental treatment, Rehabilitation, Prognosis and prevention. Introduction: The disease is named after the German ophthalmologist Theodor Leber, who first described 15 cases of sudden vision loss in patients from four families. The molecular genetic basis of the disease was established in 1988 by the American biochemist D. Wallace. Leber's hereditary optic neuropathy (LHON) occurs with a frequency of 1 case per 50 thousand people, but every ten thousandth person on the planet is a carrier of the mutation. In Russia, the disease is more common among the population of Siberia. Men suffer from optic neuropathy 5 times more often than women. The disease develops as a result of mutations in mitochondrial DNA, which lead to a disruption of the energy supply of the optic nerves and lead to their death. Up to 95% of cases are associated with 3 types of hereditary anomalies: 3460G>A in the ND1 gene, 11778GC (ND6). The mutation of the ND4 gene is the most common in clinical practice. Leber optic neuropathy can also be caused by other variants of anomalies that are not well understood due to their rarity. 323 Mart, 2025-Yil Mitochondrial DNA mutations are characterized by complete penetrance, so some people with an abnormal gene develop a pronounced clinical picture, while others remain asymptomatic carriers throughout their lives. External triggers play a role in the development of the disease. The most important of them are: When the nucleotide sequence in mitochondrial DNA is disrupted, the structure of the proteins encoded by these genes changes. Since Leber's optic neuropathy affects the ND genes encoding proteins of complex I (NADH-ubiquinone reductase), the pathology occurs at the stage of formation of ATP molecules. The cells of the nervous system are sensitive to the lack of energy molecules, which leads to damage to the optic nerve. The molecular basis of the disease is a decrease in ATP transport to the distal parts of the axons, which leads to the initiation of apoptosis processes from the periphery. ATP deficiency is most pronounced in the thin unmyelinated fibers that make up the optic nerve, therefore vision is primarily affected in Leber's neuropathy. The development of pathology is facilitated by the congenital multiplicity of axons in the optic nerve head and the special structure of the cribriform plate. Research methods and materials: Leber's optic neuropathy is characterized by 3 successive stages: preclinical, acute, chronic (atrophic). The first stage is asymptomatic, but when the patient is examined by an ophthalmologist for another reason, swelling of the optic nerve and the appearance of telangiectasias in it are detected. The duration of this stage is not regulated, since the disease is detected very rarely in the preclinical stage. The acute stage of Leber's optic neuropathy most often occurs in young men aged 18 to 30 years. Patients complain of a sharp decrease in vision, similar to a central scotoma. Within 1-1.5 months, a person loses the ability to distinguish small objects, sometimes even counting fingers up to a hundred, and only the sensation of light remains. Pathology affects both eyes simultaneously or sequentially with an interval of 6-8 weeks. After 6 months, the disease becomes chronic, when visual acuity is reduced to several thousandths. During this period, nerve atrophy continues, after which the function of the eyeball cannot be restored. The ophthalmological picture is characterized by pallor of the optic disc. However, there are cases of reverse development of symptoms, when after some time patients partially restore vision. Extraocular manifestations are possible with optic neuropathy. Nerve damage can affect more than just the optic tract, so some patients experience peripheral neuropathy, myopathy, and muscular dystonia. If the disease manifests itself in early childhood, there is a risk of developing 324 Mart, 2025-Yil subacute necrotizing encephalomyopathy (Leigh syndrome). Sometimes, symptoms of NONLS and MELAS syndrome overlap. The main problem of Leber's neuropathy is loss of vision, which is especially difficult for young patients. Against the background of blindness, severe depression develops, which can end i