About Leber Hereditary Optic Neuropathy

What is Leber Hereditary Optic Neuropathy?

Leber Hereditary Optic Neuropathy (LHON) is a rare inherited eye disorder that causes progressive vision loss. It is caused by mutations in the mitochondrial DNA, which is passed down from mother to child. Symptoms usually begin in young adulthood and include sudden, painless vision loss in one or both eyes. Over time, vision loss can become severe and may lead to blindness. Treatment options are limited, but some medications may help slow the progression of the disease.

What are the symptoms of Leber Hereditary Optic Neuropathy?

The most common symptom of Leber Hereditary Optic Neuropathy (LHON) is sudden, painless Vision loss in one or both eyes. Other symptoms may include:

- Blurred vision

- Loss of color vision

- Loss of central vision

- Loss of peripheral vision

- Difficulty seeing in dim light

- Difficulty reading

- Double vision

- Eye pain

- Headache

- Loss of balance

- Loss of coordination

- Nausea

- Vomiting

What are the causes of Leber Hereditary Optic Neuropathy?

Leber Hereditary Optic Neuropathy (LHON) is caused by mutations in the mitochondrial DNA. These mutations can be inherited from either parent, and can cause a variety of symptoms, including vision loss, eye pain, and headaches. The most common cause of LHON is a mutation in the mitochondrial gene MT-ND4, which is responsible for producing a protein that helps convert energy from food into a form that cells can use. Other mutations in the mitochondrial genes MT-ND1, MT-ND6, and MT-ND4L can also cause LHON.

What are the treatments for Leber Hereditary Optic Neuropathy?

1. Vitamin Therapy: Vitamin B12, folic acid, and other vitamins have been used to treat Leber Hereditary Optic Neuropathy (LHON).

2. Corticosteroids: Corticosteroids are a type of medication that can reduce inflammation and help protect the optic nerve from further damage.

3. Antioxidants: Antioxidants such as Coenzyme Q10, L-carnitine, and alpha-lipoic acid may help protect the optic nerve from further damage.

4. Mitochondrial Replacement Therapy: This is a new experimental treatment that involves replacing the mutated mitochondrial DNA with healthy mitochondrial DNA.

5. Stem Cell Therapy: Stem cell therapy is a new experimental treatment that involves injecting healthy stem cells into the eye to help regenerate the optic nerve.

6

What are the risk factors for Leber Hereditary Optic Neuropathy?

1. Family history: Leber Hereditary Optic Neuropathy (LHON) is an inherited disorder, so having a family history of the condition increases the risk of developing it.

2. Age: LHON is most commonly diagnosed in young adults between the ages of 15 and 25.

3. Gender: LHON is more common in males than females.

4. Ethnicity: LHON is more common in people of European descent.

5. Smoking: Smoking increases the risk of developing LHON.

6. Alcohol consumption: Excessive alcohol consumption increases the risk of developing LHON.

Is there a cure/medications for Leber Hereditary Optic Neuropathy?

Yes, there are medications available to treat Leber Hereditary Optic Neuropathy (LHON). These medications include idebenone, which is a synthetic antioxidant, and other mitochondrial-targeted therapies. However, these medications are not a cure for LHON and may not be effective in all cases. Additionally, there is no known cure for LHON at this time.