Leber hereditary optic neuropathy (LHON) is a neurological disorder characterized by sudden or gradual loss of central vision, usually in both eyes. This rare disorder mostly affects young adults and adolescents, especially men. There is currently no effective treatment, but early diagnosis is important as early treatment can help slow the progression of the disease.
History of the disease and interesting historical facts
The disease was first described in 1871 by the German ophthalmologist Theodor Leber. The disease was named after this doctor. In 1988, it was discovered that the disease is associated with mutations in mitochondrial DNA.
Epidemiology
LHON usually appears in adolescence or early adulthood, with a peak incidence between ages 15 and 35. Men are affected more often than women, at a ratio of about 4 to 1. Worldwide, approximately 1 to 9 out of 100,000 people have the disease.
Genetic predisposition to this disease
Leber's disease is associated with mutations in mitochondrial DNA. The three main mutations (i.e. errors in genes) responsible for Leber's disease are concentrated in the genes MT-ND1, MT-ND4 and MT-ND6.
Risk factors for the development of this disease
There are no clearly identified risk factors for Leber hereditary optic neuropathy. However, some studies suggest that radiation exposure, smoking, allergic reactions, and the use of certain types of medications may increase the risk of developing the disease.
Diagnosis of this disease
Diagnosis of LHON is difficult because the first symptoms are sudden. The main symptom is loss of central line vision in both eyes over a period of weeks or months. Molecular genetic testing and optical coherence tomography are used to confirm the diagnosis.
Treatment
There is currently no effective treatment for LHON. However, some patients may experience improvements in vision without treatment. Also, some studies suggest that taking medications containing idebenone may improve vision in people with LHON.
List of medications used to treat this disease
Currently, clinical trials of various drugs are underway, such as idebenone, EPI-743, Raxone and others.
Disease monitoring
Monitoring of the patient's condition includes regular visits to the doctor, eye examinations, and consultation with a genetic counselor. The prognosis of the disease varies depending on the degree of vision loss and the presence of other symptoms.
Age-related features of the disease
Leber's disease most often manifests itself between the ages of 15 and 35. Despite this, people of all age categories are at risk of developing this pathology.
Questions and Answers
- What are the first signs of the disease?
The first sign is usually a sudden loss of vision in the central line in one eye, which then spreads to the other eye. - Does nutrition matter in this disease?
People with LHON may benefit from reducing their intake of foods containing toxins that can damage mitochondria. - Is it possible to prevent the development of the disease?
There is currently no way to prevent the disease.
Advice from Dr. Oleg Korzhikov on this disease
The main advice from Dr. Korzhikov is to see a doctor at the first symptoms. The doctor also recommends that patients refrain from smoking and avoid direct contact with toxic substances, as they can negatively affect the mitochondria.
