Living with coloboma

It depends on how much coloboma affects your vision. With iris coloboma, which affects the coloured part of the eye, most people still retain a good amount of sight.

But if your retina, macula, or optic nerve are affected, there's more likely to be a vision impairment. If this is the case, your child may need some adjustments and aids around the house and at school to help make the most of their useful vision.

Living with coloboma does mean you have an increased risk of developing other eye conditions. That's one reason why going for regular eye tests is so important. The main conditions to be aware of are:

• Glaucoma – a group of eye conditions, usually caused by a build-up of pressure in the eye, which can damage the optic nerve. It often develops without apparent symptoms, to begin with, so regular eye tests are important. Early treatment can help limit sight loss. 
• Retinal detachment – occurs when the retina at the back of the eye pulls away from the blood vessels supplying it with oxygen. It's an emergency as it can result in loss of sight. Be aware of the symptoms and get urgent help if you experience them.
• Cataracts – cloudy patches in the lens of the eye that can lead to blurred vision and other symptoms. If these abnormalities go untreated, cataracts can cause blindness, but surgery is generally successful (Source: NHS).
• Choroidal neovascularisation – new blood vessels develop behind the retina and can leak and bleed, affecting vision. It's rare, and treatment is available with anti-VEGF injections.

Because it's not always possible to tell how a child's vision will be affected by coloboma, early support is key to making the most of their vision as it develops. Here are a few tips:

• Children will benefit from lots of stimulation at a young age to help their visual system develop. Get ideas and resources specially designed for children with visual impairment.
• Talk to your child's school so they understand how coloboma affects them and the adaptations they need. Qualified Teachers of children with a Vision Impairment can provide expert support and advice. Find out more about getting education support for your child.
• Other families living with visual impairment can be a great source of emotional support, especially in the early days when you're getting used to a diagnosis and wondering what the future may hold. We offer support and connections to other families. MACS also offers a coloboma support group with practical advice and opportunities for families.

If your coloboma means you're living with a visual impairment, there's lots of support and advice available:

• Your eye doctor can refer you to a specialist low-vision clinic for practical advice on equipment and other support.
• Social services can assess the support you need to live independently at home. For example, help with cooking, cleaning, staying safe at home, and getting around easily.
• Technology and equipment can help with daily life, from simple tools like a liquid level indicator to stop you from overfilling your mug, screen reading software, voice recognition technology, E-readers, and accessibility features and apps on smartphones.

Not all coloboma causes significant visual impairment, but it's possible to register as sight impaired when it does.

A certificate of visual impairment (CVI) can help access services, benefits and other support. If coloboma significantly affects how you go about daily tasks, you may also be eligible for some benefits. These could include Personal Independence Payment and other support like a discounted TV licence and concessionary rates on public transport.

Coloboma is sometimes tricky to spot, and for many types of coloboma, there's no treatment. Iris coloboma can be cosmetically corrected by wearing contact lenses or surgery, reducing light sensitivity. Even for types of coloboma that can't be treated, regular eye tests can detect other eye conditions which may develop, such as cataracts. Prompt treatment of these can help reduce the risk of sight loss.

Coloboma can be caused by a fault in particular genes and can also happen in people with specific genetic syndromes such as Treacher-Collins, Cat-eye, and CHARGE syndromes. It's sometimes inherited but can also occur spontaneously. If you or your child have coloboma, you may be eligible for genetic counselling.