Leber congenital amaurosis
What is it?
Leber congenital amaurosis (LCA) is a name given to a group of rare inherited disorders that affect the light-sensitive layer of the eye (the retina). People with LCA have severe sight loss at an early age.
LCA affects 2 or 3 people in every 100,000.
LCA is inherited, which means that faulty genes are present in the family. In most cases, people with LCA have inherited a faulty gene from both parents (known as ‘autosomal recessive inheritance’) so they end up with 2 faulty copies. Parents are not affected as they have one healthy and one faulty copy.
Faults have been found in 18 genes so far. The genes are responsible for making proteins that are important for developing the structure of the retina or how the retina works.
People with LCA have very poor vision and involuntary eye movements (nystagmus) from early infancy. Most people have severe night blindness and some are sensitive to light (photophobia). Over time the lens in the eye may become cloudy (cataract) and some people develop an abnormal shape to their cornea (keratoconus).
Children with LCA tend to poke their eyes and this may lead to a ‘sunken’ eye appearance. Most people with LCA have no other related health issues but LCA can sometimes be part of a general condition that includes health problems such as kidney disease, delay in reaching childhood milestones and other neurological problems.
There are currently no effective treatments for LCA available in the clinic.
The major strands of LCA research are finding the remaining genes that cause the condition and trying to develop new treatments. These include gene replacement therapy, new drugs and transplanting new retinal cells that have been developed from stem cells.
Fight for Sight part-funded the world’s first clinical trial of gene therapy for one form of LCA (caused by faults in the RPE65 gene). The early results have been very promising and the results of a large clinical trial are expected in the next 12 months. Read our news stories on LCA to keep up to date with the latest information.Read our research projects
Jackson Coghlan was diagnosed with Leber’s congential amaurosis (LCA), a retinal degenerative condition, in 2008 aged two and half months.
Jackson’s parents, Alicia and Kevin, first noticed that something was wrong with his sight, as he wasn’t really focusing. Scarring on Jackson’s retina was detected and he was referred to Moorfield’s Eye Hospital.
The family saw Professor Tony Moore and it was during this appointment that Jackson was diagnosed with LCA. The condition affects Jackson’s central vision and he has some peripheral vision remaining.
Kevin said: “We didn’t really know what the condition was, so there was a lot of blame, we were blaming ourselves thinking what did we do wrong?”
Alicia said: “With Jackson being blind I was worried that he would be excluded and find it difficult to communicate in the same way as other children do. However, that couldn’t be further from the truth, as Jackson is so confident and loves meeting new people.”
The family turned to Fight for Sight to find out about eye research into Jackson’s condition.
Alicia added: “We’re determined that the condition would not define Jackson – we don’t want him to be known as the blind boy, there’s so much more to him than his sight. Our mission as parents is to make Jackson as confident as possible. Jackson doesn’t know any difference and it actually affects other people more than it does him – we’ve even had strangers bursting into tears.
“We knew that there wasn’t an immediate cure but we just wanted to start doing something and it feels like we are helping find a cure for Jackson’s and others like him by raising funds for Fight for Sight.”
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.
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.
Last updated August 2015
Approved by Professor Tony Moore, UCSF School of Medicine