Leber Hereditary Optic Neuropathy - What You Need to Know

Leber Hereditary Optic Neuropathy was designated as a separate genetic condition in 1871 when it was discovered that young males whose family had a history of blindness would experience a sudden loss of vision. Leber Hereditary Optic Neuropathy is the most common of the inherited Optic Atrophies.

Leber Hereditary Optic Neuropathy usually appears as eye pain or a mild discomfort. The patient may also experience numbness and/or tingling. An ophthalmologist should be seen immediately because he or she will have to check for
visual field defects, blood vessel changes around the optic disc, optic disc pallor, pupil reflex abnormalities, and color vision abnormalities. The reason why an early visit is so imperative is the fact that these symptoms, which only a professional will be able to detect, will appear before there is an actual loss of vision.

The most significant advances in the diagnosis of Leber Hereditary Optic Neuropathy began in 1988 when researches discovered that Leber Hereditary Optic Neuropathy is a mitochondrial diseases, meaning only the mother can pass the defect on to a child. They have also been able to discover more than 20 different genes that are involved in developing
Leber Hereditary Optic Neuropathy and they account for about 95% of all Leber Hereditary Optic Neuropathy diseases.

With Leber Hereditary Optic Neuropathy, the mitochondrial DNA in the optic nerve cells cannot produce energy and without energy, cells die. While the exact process is still unknown, it is believed that the death of the cells is preprogramed and occurs as a result of the defective mitochondrial DNA being distributed to different cells during the normal division and aging process.

The mitochondrial DNA that causes Leber Hereditary Optic Neuropathy is present in 1 out of every 8,500 people in the general population, but not everyone with the mutated DNA will develop the disease. Leber Hereditary Optic Neuropathy strikes males in their 20's 80% of the time, but it can occur in both males and females at any age. Leber Hereditary Optic Neuropathy has also been diagnosed in children as young as 6 and in adults as old as 62. Females who have the mutated gene have a 85% of not developing the disease, but with males it is about 50%.

Certain toxic substances have been shown to cause neurological and optic blindness and the thought is that those with any of the mitochondrial diseases and the advice is to stay away from substances such as tobacco smoke, alcohol
some antibiotics, cancer treating drugs, anti-viral drugs, anti malarial drugs, certain anti arrythmic heart drugs, certain anti high blood pressure drugs and certain anti epilepsy drugs. While there is no proof yet that this will help with Leber Hereditary Optic Neuropathy, it has been effective with other vision conditions. The decision on the types of medications would have to be made by your eye care professional along with your physician.

Sources:

.Leber Hereditary Optic Neuropathy

International Foundation for Optic Nerve Disease