Leber’s Hereditary Optic Neuropathy

Leber’s Hereditary Optic Neuropathy (LHON) is a health condition that is inherited and mainly characterized by loss of vision. This condition is mostly experienced by people in their teens or above the ages of twenty years old. In rare cases, it can also b experienced during childhood. The highest cases have often been reported on males compared to females.

LHON begins with blurring of vision in one eye or periodically in both eyes. In case the clouded vision starts in one eye, there is usually a higher chance that the same will be experienced in the other eye within a span of weeks or months to come. As time advances, the problem develops and a person loses visual acuity or sharpness in vision. Besides, the victim’s color vision can also be flawed.

The Leber’s hereditary optic neuropathy usually affects the central vision that is critical for tasks like recognition of faces, reading and even driving. The loss of vision is caused by death of cells that are found in the nerve that is mandated with relaying visual information to the brain based on what is spotted by the eyes. This nerve is known as the optic nerve. In a few people, central vision can improve gradually while most of the cases often end up in profound and permanent loss of vision.

Loss of vision is mainly and almost the only symptom that those who suffer from LHON can show. However, there are cases of persons with additional symptoms that have been reported over the years. Such signs can include tremors, movement disorders, and cardiac conduction defects. Individuals that portray vision loss and these additional signs are said to have LHON plus.

Despite Leber’s hereditary optic neuropathy being a condition that has been around for years, it is not quite common. In fact, even its prevalence in most countries across the globe is not known. Studies show that the condition affects approximately one in every 30,000 to 50,000 persons in Finland and Northeast England.

This condition is mainly associated with changes taking place in mitochondrial DNA. LHON is caused by mutations in the MT-ND4, MT-ND1, MT-ND4L and MT-ND-6 genes. The syndrome that is caused by the mutation is usually based on the particular type of mutation in conjunction with other factors. However, there is no clarity on how these genetical alterations can result into the death of cells that are found within the optic nerve and cause the symptoms outlined above.

Those with a family history of LHON are likely to experience the condition at some point in life. Those who have not had such history will need to undergo neuro-ophthalmological evaluation in order to find out whether they have the condition or not. Blood testing is also advised since it is effective in the assessment of mitochondrial DNA. In case the condition is diagnosed at its early stages, there is a beneficial treatment that can be offered for certain cases. Currently, experiments are underway for the discovery of ways on how to contain Leber’s hereditary optic neuropathy.

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Reference:

http://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy

http://en.wikipedia.org/wiki/Leber%27s_hereditary_optic_neuropathy