Leber's Optic Neuropathy
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These pages provide a summary of the current information on Leber's Hereditary
Optic Neuropathy (LHON) , also known as Leber's Optic Atrophy (LOA) , Leber's
Optic Neuropathy (LON) or Leber's Disease. It is often referred to as just
Leber's for short.
They contain a non-technical description of Leber's and current research into
causes of Leber's. There are also links to Leber's-related sites and scientific
papers, and useful information for visually impaired people living in the
United Kingdom.
Leber's Hereditary Optic Neuropathy is a rare condition which can cause loss of
central vision. It usually affects men, most commonly in the late twenties or
early thirties, but the symptoms can happen at any age, to men or women.
Leber's Hereditary Optic Neuropathy was first described by Theodore Leber in
the 19th century, but we only really started to understand the inheritance and
cause of Leber's in the late 1980's.
Usually Leber's affects one eye first, so central vision is lost in that eye
over a period of a few weeks. One or two months later, the second eye is
affected in the same way. The time when someone is losing their eyesight is
often called the 'acute' period. After a few more weeks, the eyesight stops
getting worse.
Although that describes the most common pattern for Leber's, it can also affect
someone very suddenly, or can affect them more gradually over a period of
years.
Leber's is a genetic condition, that is, it is passed down through the family.
Not everyone in a family affected by Leber's will lose their eyesight, and we
do not yet know how to tell who will get symptoms.
We do know that Leber's is inherited through a gene which is only passed on
through the egg cell from the mother. Men cannot pass on Leber's Hereditary
Optic Neuropathy to their children.
Leber's Hereditary Optic Neuropathy is linked to a number of genes, all in the
DNA of structures called Mitochondria. These provide energy to the cells of the
body. We believe that the particdular gene changes linked to Leber's Hereditary
Optic Neuropathy lower the amount of energy available to the cells of the optic
nerve and retina. These cells are damaged and can even die because of this lack
of energy. The damage to the optic nerve and retina is what causes the symptoms
of Leber's.
You can directly support research into LHON at Newcastle University through the James Ferguson Fund.
On 30 April 2009 James Ferguson and his friend Beth start a 10-day cycling trip to raise money for LHON research. You can read their blog at 2 People 1 Bike and make a donation at The Newcastle University Alumni Donations page.
The Bascom Palmer Eye Institute in Miami, Florida is launching a study into the possible treatment of LHON using Gene Therapy.
Details of the Study can be found at
Doctors at the University of Newcastle and in Munich are running a clinical trial of the drug Idebenone for treating people RECENTLY affected by LHON. They are looking for people affected by LHON within the last 3 months who are willing to take part in the trial.
If you live in the United Kingdom and have recently developed the symptoms of LHON then you may be eligible to take part in this trial. If you know someone who may be eligible please pass this information on to them.
Details of the trial can be found at the University of Newcastle website below.
- Leber Hereditary Optic Neuropathy Idebenone Trial
- Santhera - the Swiss drug company sponsoring the trial
Other sections of this website
- FAQ -Answers to Frequently Asked Questions
- Idebenone Clinical Trial
- Background on Leber's Optic Neuropathy
- Gene Reviews article - LHON
- IFOND - the International Foundation for Optic Nerve Disease
- Information for those living in the UK
- Other useful web sites
- Please join the LHON on-line self-help and discussion group
- Please join the Talking Books on-line Discussioin and Review group
- Leber's Congenital Amaurosis
- Web search tools
- Dictionaries & Glossaries of medical terms
- Disclaimer
The On-line Mendelian Inheritance in Man (OMIM) web site provides a very
technical ef of current scientific knowledge on LHON at the O M I M
Leber's section. This is fully documented with references to the formal
scientific research papers. I have deliberately not included references to
scientific papers in this site as it would make the site less readable for
people without scientific training.
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This page last updated 10 June 2009.
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