LeberOptikusNeuropathie

Leber's Hereditary Optic Neuropathy (LHON) is a rare mitochondrial disorder affecting the optic nerve, leading to progressive vision loss. The disease is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient to cause the condition.

LHON is caused by mutations in the mitochondrial DNA, specifically in the MT-TH, MT-ND1, or MT-ND6 genes. These mutations affect the normal functioning of the optic nerve, ultimately resulting in vision loss. The condition typically affects young adults, with the age of onset ranging from 8 to 30 years old.

Symptoms of LHON typically begin with an acute loss of vision in one eye, often due to central vision loss. This is followed by a gradual progression to blindness in that eye. The other eye may be affected, with vision loss occurring months or years later. There is no cure for LHON, and treatment is focused on managing symptoms and slowing disease progression.

Research suggests that LHON may be associated with smoking, and certain mitochondrial genes may increase susceptibility to the condition. However, the exact causes and mechanisms of LHON remain poorly understood. Management of LHON includes advice on lifestyle factors, such as avoiding smoking and reducing the risk of additional mitochondrial damage.

Low vision rehabilitation programs are often recommended to help individuals with LHON adapt to their vision loss. Advanced technologies, such as mobile apps and digital displays, may also aid individuals in managing their condition. Overall, a definitive diagnosis of LHON can only be made through genetic testing, which confirms the presence of a mitochondrial DNA mutation.