This article located on Medline Plus, was updated by Raymond S. Douglas, M.D., PhD. at the UCLA Medical Center. It gives
good advice on what
coloboma is and possible causes. Coloboma is a rare birth defect that affects the eyes. It can also be indicative of other, more serious, birth defects. In the Greek, Coloboma means 'unfinished.' Coloboma occurs when the eye stops growing before it is fully developed. It occurs when there is a gap in the eye's structures. The gap can occur in various areas of the eye. Those with Coloboma may appear as though the pupil(s) of their eye(s) are shaped like a keyhole or notch. Eyes are formed in the womb, starting as a small bud and then sprouting outward to form all the intricate parts of the eye. The formation may not be complete until the later stages of pregnancy. A gap called the optic fissure is formed which brings nourishment to the eye. The gap closes when the eye is formed. If it doesn't close, Coloboma occurs. 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. For some, vision is not affected; for others, vision can be greatly affected. If both eyes are afflicted, blurred vision will sometimes occur. For some, sensitivity to bright light is their only concern, outside of the obvious cosmetic affect. For others, blindness occurs. The degree of vision impairment, from mild to severe, rests on how completely the eye has formed. Coloboma occurs in 1 of every 10,000 people. Interestingly, 80 to 90% of children diagnosed with CHARGE have Coloboma. CHARGE is an acronym for a group of developmental
abnormalities, including Coloboma, Heart problems, Atresia of the choanae, Retardation of growth, Genital and urinary abnormalities, and Ear and hearing abnormalities. There is no cure for Coloboma. However, contact lenses can be worn to make the eye appear 'normal'. Also, sunglasses are a must as Coloboma makes the eye extra sensitive to light, even causing pain due to the iris's inability to contract. If you or someone you love suffers from Coloboma, help is available. Join this support group http://groups.yahoo.com/group/coloboma/ . And be sure to read the article by Medline Plus.