Leber's Hereditary Optic Neuropathy
Frequently Asked Questions

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  Is there any treatment for LHON?

No, there is no treatment currently available. Many researchers, including our laboratory, are working hard to develop a treatment for LHON.

A small number of LHON patients recover their eyesight spontaneously, i.e. in the absence of any treatment. This phenomenon of individual cases may give patients and researchers false hope of a treatment that was tried at the time.

It is well documented, however, that a healthy life style and a balanced diet rich in antioxidants (such as Vitamins A, C and E, Selenium and Zinc) can be effective. For example, since vitamin B12 deficiency may trigger the LHON symptoms, injection of this vitamin during the first few months after eyesight loss may help some individuals with LHON. It is recommended that patients abstain from smoking and drinking alcoholic beverages as these may be possible triggers of LHON.

  What is the age when eyesight is affected?

Typically, individuals first notice symptoms at the age of 25-35. But LHON can affect the eyesight of individuals of any age from 1 to over 70 years.

Usually, one eye shows symptoms first, followed by a symptom onset in the other eye 8 to 12 weeks later. The deterioration of eyesight progresses quickly over the period of a few months.

Patients are left with a loss of central vision but often maintain some peripheral vision, which allows them to see large objects by not looking at them directly.

  How long does the vision loss progress?

Once the phase of eyesight loss is over, the eyesight usually stays the same. The loss of eyesight usually progresses rapidly over a period of 2-8 months, but in some individuals can take up to two years.

  Will I get LHON if I have the LHON gene?

No. The penetrance of the LHON gene is incomplete, meaning that some but not all people carrying the LHON gene will be afflicted with the disease. It is thought that certain triggers may cause the eyesight loss. What exactly those triggers are remains to be determined. But some of the candidates suspected to trigger LHON in individuals carrying the genes are:

  • Smoking
  • Drinking Alcoholic Beverages
  • Inhaling Toxic Substances (e.g. Carbon Monoxide)
  • Other Unrelated Diseases (e.g. Diabetes)
  • High Levels of Stress

Current estimates state that approximately 20% of men carrying a LHON gene develop symptoms of LHON. Only about 4% of women with the LHON gene develop symptoms of LHON.

  How is eyesight compromised in LHON patients?

No two people with LHON experience the same visual impairments. Some patients describe their vision as having an ever-changing swirl of color in their central field of vision. The severity at any given time can depend on tiredness, ability to concentrate and other factors.

  What is the reason for the visual impairment in LHON patients?

Interestingly, the eyes of patients with LHON disease function normally, meaning, unlike patients that are near or farsighted, the light becomes focused properly on the retina. However, the subsequent signal to the brain is not transmitted properly because the optic nerve is damaged.

A number of genetic defects that cause LHON have been identified. All of these defects affect the power plant of our cells, the mitochondria and renders them less efficient. In fact, studies have demonstrated that mitochondria in LHON patients have a 70% decrease in efficiency compared to mitochondria from healthy subjects. This deficit in energy production eventually leads to the death of the optic nerve cells.

  What does Dr. Whelan need from me?

Your written permission for Froedtert and/or the Medical College to let him use your blood for the study.

  How long might Dr. Whelan use my blood for this study?

It will require one to two weeks for Dr. Whelan to process, treat and test your blood cells. After that time, your blood will be discarded.

  Will Dr. Whelan let anyone else use my blood?

Yes. Dr. Whelan will give your blood to the study sponsor, NIH, and to their business partners so they can do their parts of the study. Other people might look at your blood to check the study. These could include your insurance company, federal agencies such as the FDA (Food & Drug Administration), and the Medical College.

  How will Dr. Whelan protect my privacy if I take part in this study?

Dr. Whelan will use and share your blood only for this study. Results might be published and presented at meetings so others can learn from them. These results will not identify you. The Medical College will store your blood in a safe place. Only people with permission will be able to see or use it. This is required by laws like the Health Insurance Portability and Accountability Act (HIPAA).

HIPAA protects your blood, health information, and tissue only if they also have personal details. Personal details like birthdates, initials, addresses, and social security numbers can identify you. They can also identify your family, your housemates, or your employer.

  Once I sign this form can I stop my blood from being used in this study?

Yes, you can cancel your permission to use your vision information or blood at any time. This will mean that you can no longer participate in the study. You must cancel your permission in writing and give or send it to:

Harry T. Whelan, MD
Bleser Professor of Neurology
Medical College of Wisconsin
8701 Watertown Plank Road
Milwaukee, WI 53226-0509

  What rights do I have regarding my blood in this study?

You have the right to look at your Protected Health Information (PHI) in both your medical chart and your research chart. If you want to look at or get a copy of your medical chart ask your medical doctor, but it might cost money to get the copy. If you want to look at or get a copy of your PHI from your research chart, ask your study doctor, but you may have to wait until the study is over. If you have not received a privacy notice that explains some of your rights, Dr. Whelan will give you a copy.

  Could my blood be used for other purposes without my permission?

No. It is against the law for anyone conducting this study to use your vision information or blood for any other purpose without permission.