What is it?
Corneal dystrophy is a group of rare inherited eye conditions that affect the cornea – the clear front surface of the eye – and can cause sight loss. The group includes Fuchs corneal dystrophy and Meesmann Corneal Dystrophy.
Corneal dystrophies are inherited, which means they are passed down through families. But we don’t know the exact genetic cause in many cases.
Corneal dystrophy leads to the cornea becoming less and less clear over time. This can eventually mean complete sight loss.
Corneal dystrophies often require a corneal transplant to restore vision. This involves surgery to remove the unhealthy cornea and replace it with a clear and healthy donor cornea.
An important goal for corneal dystrophy research is to find the exact genetic cause behind each person’s condition. This means that affected patients and their relatives can be given clearer counselling about expected progression of their condition and how it might affect their family.Read our research projects
Matilda Henley has been having problems with her sight since she was 18 months old.
Matilda’s mum, Claire, first noticed that something was wrong, as Matilda would wake up screaming during the night. This would continue for hours, she would also shut her eyes for lengthy periods and her behaviour was really out of character.
The situation came to a head in Christmas 2010 when Matilda was taken to A&E. Claire describes this as the worst period ever, as she had to witness Matilda in so much pain and felt helpless. Matilda was diagnosed with a large scratch on her eye.
In 2011 she was diagnosed with a corneal dystrophy. This affects the top layer of the eye and it can be covered in tiny micro cysts and if these dry out and burst it causes excruciating pain for Matilda.
Matilda's consultants have tried a variety of different treatment options in the hope of preventing the erosions occurring. These treatments have included alcohol delamination, bandage contact lenses, punctual plugs and many different lubricating eye drops and ointments.
Matilda continues to have corneal erosions, though these are less frequent. Matilda’s condition is managed through hourly lubricating eye drops during the day and a thick Vaseline like ointment is used at night.
The environment surrounding Matilda is closely monitored as this can have an impact on her eyes. For instance wind, bright sunshine, dust, heat and water can all have a damaging effect. Matilda often wears sunglasses throughout the year come rain or shine.
Consultants are still unsure what form of corneal dystrophy she has – although it’s suspected that it is Meesmann’s which is extremely rare.
Through speaking with the charity the family has been in touch with a researcher at University of Ulster. Their research project is looking at silencing the faulty gene that causes Matilda’s condition and through DNA testing they are trying to identify this gene.
The family has also had further genetic tests at University College London and Moorfields Eye Hospital through Fight for Sight funded researcher, Professor Alison Hardcastle.
Claire said: “This will have a massive impact on us, because we have a son as well, we hope that they can identify what the problem is, so we can see whether he will inherited the condition too.”
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 Mr Frank Larkin, Moorfields Eye Hospital