Leber’s Hereditary Optic Neuropathy

Discovered in 1871, Leber’s Hereditary Optic Neuropathy is a condition that impacts sudden visual loss. The condition is usually experienced during teenage years or by those in their twenties. However, there are also cases of those who attain sudden visual failure in early childhood or late adulthood. It is reported that males have a higher risk of LHON compared to their female counterparts. Among the various Optic Atrophies, LHON is the most common today.

Sometimes, many confuse Leber’s Hereditary Optic Neuropathy with Laber’s Miliary Aneurysms or Laber’s Congenital Amaurosis. However, it should be noted that these two are also conditions that affect the eyesight but not related to LHON.

Causes of Leber’s Hereditary Optic Neuropathy

Researchers discovered in 1988, that LHON belongs to a group of mitochondrial infections, genetic diseases whose inheritance occurs through the mother only. Mitochondria are bodies that facilitate the production of energy for cell activities from oxygen. There are about twenty various genes that are involved in the development of LHON. Three of them account for up to 90% of all the cases of sudden visual loss.

As a result of the mitochondrial mutation, the optic nerve cells within the mitochondria become unable to produce energy, hence death of cells.

However, there are also reports that some people without a history of blindness may also attain this condition.

Symptoms of LHON

The best way through which one can know if he or she is suffering from LHON is the signs. In fact, these are the elements that make this visual condition different from others. However, you should also visit your doctor or a professional health practitioner for examination in order to be sure.

The main sign of this condition is vision loss, which is bilateral in the first stages. However, many people do not usually realize the condition until a time when they begin to experience visual blurring, which affects the central visual field.

Others with LHON have also been reported to experience tremors, cardiac conduction defects and movement disorders. Besides, others also show signs related to multiple sclerosis, which results from the weakness of muscles, numbness, and poor coordination among other health conditions.

Diagnosis for Leber’s Hereditary Optic Neuropathy

Before it is ascertained that one is indeed having Leber’s Hereditary Optic Neuropathy, it is always advisable that a conclusive diagnosis or testing is done by health experts. The diagnosis for this condition is done through ophthalmologic findings, which involves the examination of dilated fundus. Mitochondrial mutations can be tested using polymerase chain reaction techniques. If conducted after the sudden visual loss has been experienced, the test has a likelihood of 100% accuracy.

Families of those who have suffered LHON are also at a risk of experiencing visual loss in life. It is recommended that family members are tested since lifestyle changes and dieting may help in suppressing the onset of the condition.

Patient Care and Treatment for LHON

In order to get proper care after sudden visual loss, it is important for the patient to seek advice and assistance from a professional who understands this condition. Patients are mainly offered supportive care, which involves the provision of visual aids, occupational rehabilitation assistance and registration with the relevant social organizations.

Clinical trials with idebenone have indicated modest effectiveness in almost half of the LHON cases. Besides, the administration of early and prolonged therapy have also offered chances of partial recovery.

Currently, there are ongoing studies and research on treatments for this condition. From these, various agents and medications have been proposed. The agents are not only for LHON but also other optic neuropathies.

Risk Factors

Although LHON is a condition that is generally inherited from parents, there are other key factors that may increase the chances of an individual becoming blind suddenly. These include:

• Genotype
• Genetic Markers Present
• Mature Males Predominate
• Homoplasmy
• Toxic substances

To those at risk, it is always advisable that you check with your doctor before using any prescribed drug or taking a course of action.

Although the prevalence of Leber’s Hereditary Optic Neuropathy is still considered to be quite on the low, further studies and research are still recommended to ensure that a potential treatment or cure can be attained before the condition takes another course.

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References

http://www.ncbi.nlm.nih.gov/books/NBK1174/

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

http://www.lhon.org/lhon/LHON_101.html

http://www.ifond.org/lhon.php3#causes