Leber Hereditary Optic Neuropathy (LHON) is a rare genetic disorder that primarily affects the optic nerves, leading to progressive vision loss. It is typically inherited in a mitochondrial pattern, which means it is passed down from the mother, as mitochondria are inherited exclusively from the mother's egg.
LHON is caused by mutations in mitochondrial DNA, specifically in genes that encode for proteins necessary for proper functioning of the mitochondria within the optic nerve. These mutations disrupt the energy production process within nerve cells, resulting in cell death and the gradual degeneration of the optic nerve.
Symptoms of LHON usually manifest in young adulthood, typically between the ages of 15 and 35. The most common symptom is painless, rapid vision loss in one eye, which usually worsens over several weeks or months. Within a few months, the other eye is typically affected as well, resulting in profound visual impairment or blindness.
Although LHON primarily affects the optic nerves, it is considered a systemic disorder as mitochondrial dysfunction can also affect other organs, such as the heart and skeletal muscles, albeit to a lesser extent.
As of now, there is no cure for LHON. Treatment focuses on managing symptoms and providing support to improve quality of life. Various interventions such as visual aids, low vision rehabilitation, and genetic counseling may be employed to address specific needs. Additionally, some experimental therapies, such as gene therapy and supplementation with certain vitamins, are being investigated for their potential to slow down or halt the progression of the disease.
