Anophthalmia

Several genes have been linked to anophthalmia and microphthalmia in recent years. But we don’t know exactly how they work or how they lead to eye defects. There are still more genes to find, but in some cases it may not be possible to find the exact cause.

Most people don’t have a family history of the conditions. A prenatal test may be available for families who are at risk.

People with anophthalmia or microphthalmia will be blind or have some degree of permanent sight loss in one or both eyes. The disorders are often linked to other problems including brain malformations, cleft palate and cleft lip.

It is not possible to improve vision in the affected eye/s, so treatment for anophthalmia and microphthalmia is about reducing discomfort, and improving social well-being and facial appearance.

Children may be given long-term genetic counselling and may have surgery to expand the eye socket. A prosthetic eye (‘false eye’) may be fitted if it helps.

We don’t know exactly why anophthalmia and microphthalmia happen. This makes it hard to prevent. So we need to understand the causes before prevention or treatment can become possible. This involves studying how eyes form in the womb.

Discovering more of the genes with a link to these disorders will also mean that more families can have relevant genetic counselling to help them plan their families and their future.

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.