It is important to find a medical professional who is aware of the most current research regarding LHON, as there has been much new learning in recent years and the condition is so rare that most medical professionals are not up-to-date on recent developments. Leading centers for LHON research and patient care in the U.S. include:
- UCLA Doheny Eye Institute – Pasadena, CA
- Emory University – Atlanta, GA
- Bascom Palmer Eye Institute – Miami, FL Wills Eye – Philadelphia, PA
- Outside the U.S., leading LHON researchers are at:
- University of Bologna – Bologna, Italy
- Cambridge University – Cambridge, UK
- Royal Victorian Eye & Ear Hospital – Australia
- The Ottawa Hospital – Canada
If you wish to see one of these LHON specialists but cannot afford the travel costs, consider an organization that offers free flights to those with a medical need such as Miracle Flights.
It is important to see a neuro-ophthalmologist if LHON is suspected. Since LHON causes the optic nerve to atrophy, a specialist in this field is most likely to have had experience with LHON. To find a neuro-ophthalmologist, use this directory of NANOS (North American Neuro-Ophthalmology Society) members. Directory of Neuro-Ophthalmologists
Another option is to use the Register with LHON Canada tab on this site, and request a referral to an experienced LHON doctor.
In most countries including the U.S., there is no approved treatment for LHON. In Europe, a product called Raxone made by Santhera Pharmaceuticals was approved by the European Medicine Agency (EMA) for use in the early phase of LHON. Raxone is the pharmaceutical grade of idebenone, a synthetic form of CoQ10. Several European countries and Israel have decided to offer and pay for Raxone for LHON patients who meet certain criteria, while other countries are considering the situation. The major clinical trial that led to this approval is reported here: Idebenone Clinical Trial as Reported in Brain, 2011
Additional research about this supplement can be found at: Idebenone Retrospective Report in Brain, 2011
The company that developed Raxone continues to evaluate the product through various clinical trials, such as the LEROS trial which is seeking individuals affected by LHON 5 years or less, with one of the 3 primary mutations (11778, 14484, 3460), age 12+, who have never before taken Idebenone. LEROS trial information.
In the past, idebenone was considered a food supplement. A few internet suppliers continue to provide it on that basis. It is not overseen by the FDA and its future is uncertain. Idebenone is not available in pharmacies.
Many LHON specialists suggest that people carrying a LHON mutation, both carriers and affected, should avoid environmental factors that could create additional stress on the mitochondria. These factors include:
- Smoke (all forms – tobacco, wood stoves, bonfires, etc.)
- Minocycline HCL
- Lactated Ringers (used in some IV’s)
Having a discussion with your own LHON medical professional about these factors is encouraged. They may wish to obtain and review this article: LHON Treatment Strategies.
Recent research suggests that estrogen protects women who carry a LHON mutation. Female LHON carriers and affecteds may wish to read this article, and discuss its implications with their health care providers.
It is important to avoid getting caught up in the hype of for-profit organizations who offer “stem cell treatments” to “cure” LHON and other disorders. These organizations are basically “selling hope to desperation”, at high prices. There has not been a single scientific, peer-reviewed paper backing up the claims made by these organizations as this type of treatment simply cannot work because:
- It’s literally impossible for cells injected either in the blood or CSF (spinal fluid) to get to where they belong in the retina
- There’s no way these cells would know to become Retinal Ganglion Cells (RCG’s), the cells that atrophy in LHON
- Making new RCG’s means nothing if they don’t know where their axons need to connect to. FDA Warns About Stem Cell Claims
One of the most important tests taken by those with LHON is a Visual Field Test. It tests where your eye can see and where it can’t. Those with LHON tend to have what’s called a central scotoma; an area in the center of the visual field where no information is transmitted from the eye to the brain.
Another important test is an OCT (Optical Coherence Tomography). This test measures the thickness of the optic nerve. Generally the optic nerve is unusually thick at onset of vision loss, as the fibers are swollen. Later the nerve becomes unusually thin, as the fibers atrophy.