Hereditary optic atrophy, also known as Leber's hereditary optic neuropathy (LHON), is a genetic disorder that specifically affects the optic nerve. The optic nerve is responsible for transmitting visual information from the eye to the brain. In individuals with hereditary optic atrophy, there is a progressive and irreversible degeneration or loss of the nerve fibers within the optic nerve.
This condition is usually inherited maternally and mainly affects young adults, with symptoms typically appearing between the ages of 10 and 30. The most common initial symptom is a painless, sudden, and usually sequential loss of central vision in one eye, followed by the other eye within weeks or months. In some cases, both eyes may be affected simultaneously.
The specific genetic mutations associated with hereditary optic atrophy affect the mitochondria, which are the energy-producing centers within cells. These mutations disrupt the production and function of proteins necessary for the normal functioning of the optic nerve.
Currently, there is no known cure for hereditary optic atrophy. However, some treatment options aim to support visual function and prevent further deterioration. These may include the use of supportive visual aids, such as glasses or contact lenses, low-vision aids, and occupational therapy. Additionally, some experimental therapies are being explored, including mitochondrial-targeted antioxidants and gene therapy.
Genetic counseling is recommended for individuals and families affected by hereditary optic atrophy to understand the inheritance pattern and available testing options.
