Finding out your child has a birth defect isn’t easy. Knowing how to live with it makes life bearable. Discover the facts about Coloboma, a rare birth defect affecting the eye, and possibly indicative of other defects. Coloboma can range from a cosmetic anomaly to a serious vision problem, even blindness, in the person affected. Currently, there is no cure for Coloboma. However, with continued education and research, a cure may be just around the corner.
Coloboma….what is it?
The term ‘Coloboma’ in the Greek means ‘unfinished.’ Essentially, Coloboma occurs when the eye stops growing before it is fully developed.
If you haven't heard of it, you're not alone. Coloboma is a very rare congenital birth defect. It is a gap in the eye’s structures. Large or small, the gap can occur in various areas of the eye such as the eyelid, iris, ciliary body, lens, retina, macula, choroid and optic disc. People with Coloboma may appear as though the pupil(s) of their eye(s) are shaped like a keyhole or notch. It can give the eye a split iris effect or appear as simply a black notch. Some refer to the eyes’ appearance as ‘cat eyes.’
How the Eye is Formed
Our eyes are formed in the womb, starting as a small bud and then sprouting outward to form all the intricate parts of the eye. This occurs during the fourth and fifteenth week of pregnancy. Although the eye begins to form early on, the formation may not be complete until the later stages of pregnancy. Near the beginning, a gap called the optic fissure is formed which brings nourishment to the eye. It opens on the underside of each bud. When the eye is completely formed, the gap closes.
What causes Coloboma?
Genetics are a possibility; however, there are instances where Coloboma appears without any previously known family history of the disease. This is termed ‘sporadic.’ As the eye forms, if the fissure does not close completely, Coloboma has occurred. The gap will remain throughout life.