What is Leber hereditary optic neuropathy?

It is a maternally inherited optic atrophy caused by mitochondrial DNA mutations.

Which department should be consulted for Leber hereditary optic neuropathy?

English name: Leber hereditary optic neuropathy, LHON

Aliases: Leber hereditary optic atrophy, leber hereditary optic atrophy, Leber hereditary optic neuropathy, leber hereditary optic neuropathy, leber, Leber, maternally inherited optic atrophy, hereditary optic atrophy, hereditary optic neuropathy, Laber's disease, laber's disease, Leber's hereditary optic atrophy

Departments for consultation: Ophthalmology, Neurology.

What causes Leber hereditary optic neuropathy?

This disease is caused by mitochondrial DNA mutations, which lead to mitochondrial dysfunction, reduced ATP synthesis, increased reactive oxygen species, and subsequent apoptosis of ganglion cells, resulting in symptoms.

Who is most commonly affected by Leber hereditary optic neuropathy?

The typical age of onset is 15–35 years, with a male-to-female ratio of approximately 5:1, making young males the most commonly affected group.

What are the main symptoms of Leber hereditary optic neuropathy?

The primary symptom is painless, sudden, and severe vision loss in both eyes, usually occurring weeks to months apart. Most patients only experience ocular symptoms, while a minority may have systemic symptoms such as intellectual disability, epilepsy, hearing impairment, or dystonia.

Fundus examination in the early stages shows optic disc hyperemia, edema, and tortuous peripapillary capillaries. In later stages, the edema and capillary dilation subside, eventually leading to optic disc atrophy.

How is Leber hereditary optic neuropathy diagnosed? What tests can be done?

For patients suspected of having this condition, fundus examination, fluorescein angiography, and visual field testing should be performed, followed by genetic testing for confirmation.

What treatments are available for Leber hereditary optic neuropathy?

There is no definitive effective treatment. Patients should avoid lifestyle factors that may worsen the condition (e.g., eye strain, systemic fatigue, alcohol, smoking, or exposure to neurotoxic drugs or foods) and maintain a healthy lifestyle and diet. Idebenone may have some therapeutic effect in early-stage patients.

Coenzyme Q10, vitamin C, vitamin E, vitamin K, and reactive oxygen species scavengers have been attempted as treatments, but their efficacy remains uncertain. Gene therapy is still in clinical trials.

What is the prognosis for Leber hereditary optic neuropathy?

The prognosis varies significantly. Some carriers of the pathogenic mutation may never develop symptoms, while others may experience spontaneous vision improvement. Most patients, however, suffer severe visual impairment that affects daily life.

How can Leber hereditary optic neuropathy be prevented?

Since this is a genetic disorder, genetic counseling is crucial for families with affected members. Male patients do not pass the disease to their offspring, but children of female patients or female carriers may inherit it. Therefore, prenatal testing is recommended for female patients and carriers.

Additionally, since only about 1/3 of mitochondrial DNA mutation carriers develop symptoms, controlling triggering factors may help prevent disease onset. These factors include eye or systemic fatigue, drastic changes in living environment or habits, alcohol consumption, smoking (including secondhand smoke), and exposure to neurotoxic drugs or foods, all of which should be avoided.