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.

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.

The trial has already started recruiting people to take part in Germany and in the United Kingdom.

Details of the trial can be found at the University of Newcastle website below.

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Previous visitors may have noticed that I switched to using the automated Yahoo guestbook for a while but that was crashed by someone bombarding it with silly messages. I have started re-building the old LHON website guestbook but that relies on me having the time to personally approve and edit in every entry. If your guestbook message takes a while to appear please be patient.

The On-line Mendelian Inheritance in Man (OMIM) web site provides a very technical review 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 13 April 2007.
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