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Download Our Coloboma Factsheet In Coloboma Factsheet Contents 3 What is Coloboma? 3 How do we see with our eyes? 3 Which parts of the eye can coloboma affect? 3 Iris 4 Lens zonules 4 Retina and choroid (chorioretinal) 4 Optic disc 4 Eyelids 4 What causes coloboma to form inside the eye? 5 Does coloboma affect vision? 5 Iris coloboma 5 Lens coloboma 5 Chorioretinal coloboma 6 How is coloboma diagnosed? 7 What is the treatment for coloboma? 7 Can coloboma lead to other eye health problems? 7 Glaucoma 8 Retinal detachment 8 Choroidal neovascularisation (new blood vessels) 8 Cataract 9 What other health problems can affect some children with coloboma? 9 Coping with sight problems relating to coloboma 10 Further help and support 10 Sources of support 11 Other useful organisations 12 We value your feedback 2 What is Coloboma? Coloboma means that part of one or more structures Choroid inside an unborn baby’s eye does not fully develop Iris during pregnancy. This underdeveloped tissue is Optic nerve normally in the lower part of the eye and it can be Optic Cornea small or large in size. A coloboma occurs in about 1 in disc 10,000 births and by the eighth week of pregnancy. Macula Lens Coloboma can affect one eye (unilateral) or both eyes zonules Pupil (bilateral) and it can affect different parts of the eye. As coloboma forms during the initial development of Choroid the eye, it is present from birth and into adulthood. Lens Retina How do we see with our eyes? Iris Light enters our eyes by passing through our cornea, our pupil, (the hole in the middle of the iris), and Diagram of cross section of eye (labels cornea, lens, iris, our lens so that it is sharply focused onto the retina vitreous humour, macula, retina, choroid, optic nerve) lining the back of our eye. The retina is made up of light sensitive cells that convert light into electrical impulses which then travel along the optic nerve to our brain. Our brain processes these signals so that we are able to “see” the world around us. Which parts of the eye can coloboma affect? Opposite is a diagram of the eye showing the main structures that can be affected by coloboma Iris Iris Coloboma can affect the iris, the tissue that gives Pupil you your eye colour. Your pupil may look oval if the Coloboma coloboma is partial but if more of the lower iris is missing, your pupil will look more keyhole shaped. Photo and diagram of iris coloboma 3 Lens zonules folds round, it should join together at the bottom from Coloboma can also affect the supporting fibres of the the back to the front along a seam-like structure called lens, which are called the lens zonules. The zonules hold the embryonic fissure. If this seam doesn’t join completely, your lens in place, just behind your iris. If a section of there will be tissue missing at the bottom of the structures zonules is defective or missing, the lens is not held as being formed, leading to coloboma. The structure in the strongly all the way round. This alters its shape and as eye that is affected by coloboma relates to the part of the a result, there will be a notch or dent in the lens. This is embryonic fissure that didn’t close properly. Coloboma may often referred to as lens coloboma, despite the fact that only affect the front of a baby’s eye if most of the fissure none of the lens tissue itself is missing to form the notch. closed up. However, it may also affect structures further back in the eye too, if less of the fissure closed properly. Retina and choroid (chorioretinal) Most cases of coloboma appear without any previous At the back of your eye, the retina and the choroid family history, although in some families coloboma can can be affected by coloboma. This is known as be inherited, or could be caused by environmental factors a chorioretinal coloboma. The choroid is the such as certain drugs or infections during pregnancy. layer of tissue behind your retina and it contains A fault in the gene PAX6 has also been found to cause blood vessels that keep your retina healthy. coloboma. If a child is found to have a coloboma, the Optic disc ophthalmologist (hospital eye doctor) may ask to examine Coloboma can also affect the optic nerve where it leaves both parents’ eyes too. This is because either one of them the back of your eye, an area known as the optic disc. may have a coloboma as well but be unaware of it because they have no visual problems. If there is coloboma in Eyelids your family, you may wish to talk with the hospital staff Eyelid coloboma is less common. Although gaps in or your GP about genetic testing and speak to a genetic the eyelids are still known as coloboma, they are not counsellor about the genetic inheritance of the condition. caused by the same development problem in pregnancy Some families find out about the genes involved in their that leads to coloboma of structures inside the eye. child’s coloboma, while others do not. This is because not all the genes relating to coloboma have been identified What causes coloboma to form inside the eye? yet. Research is going on to find out more about these Coloboma forms during pregnancy while a baby is genes. There is more information about this research developing. During the second month of pregnancy, the on the MACS (Microphthalmia, Anophthalmia and buds that become the eyes develop and fold round to form Coloboma Support) website listed in the further help the shape and structures of the eye. As the developing eye and support section at the end of this information. 4 Does coloboma affect vision? Chorioretinal coloboma The effect that coloboma has on vision Someone with chorioretinal coloboma, where the choroid depends on which structures of the eye are and the retina are involved, may not be aware of any involved and how much tissue is missing. visual symptoms. However, the more retinal tissue that is missing, the more their sight is likely to be affected, Iris coloboma usually in the upper region of their field of vision. Both children and adults with only iris coloboma will If the chorioretinal coloboma is large or there is optic disc probably have fairly good vision. However, iris coloboma is coloboma, they are likely to have poor central vision. This likely to cause light sensitivity, (also called photophobia), will make activities such as reading, writing and watching in bright conditions. This is because the iris is made television more difficult. If both eyes are affected by optic of muscle that controls the amount of light entering disc coloboma, they may also have nystagmus, meaning the eye by changing the size of the pupil. If too much that their eyes move constantly and uncontrollably. light enters the eye because some of the iris is missing Vision that is affected by these types of coloboma and not working effectively, the glare that results can cannot be corrected with glasses or contact lenses. cause discomfort and affect the quality of vision. Tinted glasses, sun hats or sun blinds in cars can help to relieve You can find out more about nystagmus from light sensitivity. Your optometrist (also known as your our website rnib.org.uk/eyehealth or by optician) will be able to offer further advice about this. calling our Helpline on 0303 123 9999. You can find out more about light sensitivity It may be hard to tell what effect coloboma will have from our website rnib.org.uk/eyehealth on a child’s sight until they are older when they will or by calling our Helpline on 0303 123 9999. be able to say more accurately how well they can see. Some children with coloboma may also have focusing Lens coloboma problems that aren’t caused by the coloboma itself, If the lens of the eye is affected by coloboma, vision is such as being short-sighted or long-sighted, so their affected because of the change in lens shape caused optometrist may advise that they need to wear glasses. by the notch or dent. There may also be some degree Although glasses and contact lenses are unable of cataract in the affected eye, which means the lens is to improve any sight problems that are caused by cloudy instead of being clear. The treatment for cataract coloboma, it’s important for children to have any can be found in the “Can coloboma lead to other eye focusing problems corrected to allow their sight to health problems?” section further on in this information. develop as fully as possible. Therefore, it’s important 5 that children continue to have regular eye examinations How is coloboma diagnosed? as often as is advised by their optometrist. Coloboma is normally diagnosed when a baby is born or Where coloboma affects a person’s sight, there are specialist in a very young child. Iris coloboma can usually be seen support services which can help them. If they still have as a keyhole shaped pupil when looking at their eyes. difficulty seeing detail with their glasses or contact lenses, Some people with iris coloboma also have differently they would benefit from having an assessment in a low coloured eyes which is called iris heterochromia. This vision clinic where a low vision specialist can prescribe means that there is a different amount of pigment magnifiers to use to make the most of the sight that that determines eye colour on the iris of each eye.
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