Leber hereditary optic neuropathy

Leber hereditary optic neuropathy is a genetic disorder. So far, 4 genes have been linked to the condition. 

The affected gene is passed on from mothers to their sons and daughters. It causes a problem with the ‘power-houses’ inside cells (mitochondria) and the optic nerve wastes away.

Some people may develop Leber hereditary optic neuropathy even when there is no family history of the condition. This is because people can carry a faulty gene without ever getting symptoms.

Symptoms usually appear by age 30 (from the teens onwards), but can begin later in life or in young childhood.

The first signs may be slightly blurred vision or trouble seeing colours in one eye. Symptoms usually appear in the other eye a few weeks or months later. Severe sight loss in both eyes can develop quickly, in just 3 or 4 months, but may take a couple of years.

Women are much less likely to be affected, even if they have a genetic fault linked to the condition. Tobacco and alcohol may make symptoms worse.

There is currently no cure for Leber hereditary optic neuropathy.

Research on Leber hereditary optic neuropathy aims to find a treatment that can prevent sight loss. This could be by gene replacement therapy, light-therapy or drug treatments. 

We also need to understand more about the causes. At the moment we don’t know who in a family will get symptoms and who won’t, or whether there are any things that make symptoms more likely to develop. We also don’t know why women are affected less often than men.

You could play an important part in eye research by being a participant in clinical research study that may benefit many people. You could even help shape clinical research by becoming more actively involved and having a say. Patients, carer, or anyone with an interest can help.

What are clinical trials

Clinical trials are research studies that find out if a medical strategy, treatment, or device is safe and effective for humans. They are a key research tool for improving medical knowledge and patient care. The people who carry out research are mostly the same doctors and healthcare professionals who treat people. Their aim is to find better ways of treating patients and keeping people healthy.

Taking part

Here are some ways to find out about research projects and clinical trials that you can get involved in.

UK Clinical Trials Gateway

The UK Clinical Trials Gateway run by the National Institute for Health Research (NIHR) provides easy to understand information about clinical research trials running in the UK, and gives to a large range of information about these trials. It is designed to enable patients and clinicians to locate and contact trials of interest. Visit their website and select the eye condition that you are interested in.

NIHR Clinical Research Network Portfolio

The NIHR Clinical Research Network Portfolio is a database of high-quality clinical research studies in England, Northern Ireland, Scotland and Wales. Within this the Ophthalmology Specialty Group supports a national portfolio of research studies in ophthalmology and the vision sciences. See their website for details.

If you wish to join a trial it is always best to discuss this with your doctor or clinical team first.