You may not require treatment unless it is causing vision problems. A child with a genetic form or a specific syndrome of which coloboma is a part, may be referred for certain genetic tests. ![]() The families of affected children may be referred for genetic counseling.įor the child with an isolated coloboma, this may involve an evaluation to determine the risk of recurrence. In addition to an eye examination, a baby may undergo other testing to see whether any associated conditions are present, and to check his or her general health. At this age, it is difficult to tell whether the baby will have vision problems.Ī child with coloboma will be monitored closely by their ophthalmologist, and their vision will be tested on a regular basis. The baby may be given a general anesthetic to avoid causing any distress during the examination. ![]() The examination typically involves use of an ophthalmoscope to look inside the baby’s eyes. A baby will be evaluated by an ophthalmologist who will perform a complete eye examination to determine how much of the eye is affected. How is Coloboma Diagnosed in Adults and Children?Ĭoloboma is often identified at birth by hospital staff, or by a parent who may notice something different about their baby’s pupil. When it occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition.Įnvironmental factors that affect early development, such as the exposure to alcohol and certain drugs during pregnancy, may increase the risk of coloboma. Persons with isolated coloboma can still pass the condition onto their children. Its location depends on which part of the optic fissure fails to close.Ĭoloboma may occur spontaneously or it may be inherited. The defect occurs when the optic fissure does not close completely. The bottom line is, it results from abnormal development of the eye during the third trimester of gestation, when the eye is forming. Morning glory syndrome – optic disc coloboma that may be accompanied by cranial facial, neurologic, and other symptoms.Cat eye syndrome – characterized by coloboma, anal atresia, and an extra chromosome.CHARGE syndrome – characterized by coloboma, heart defects, atresia, retarded growth and development, genital hypoplasia (undescended testicles), and ear abnormalities.Renal coloboma syndrome – characterized by optic nerve dysplasia and renal hypodysplasia.Ocular Coloboma may be a feature of the following syndromes: Eyelid coloboma – gaps that occur in the eyelids are also called colobomas, but they arise from abnormalities in different structures during early development.Retinal detachment – separation of the retina from the back of the eye.Nystagmus – involuntary back-and-forth eye movements.Vision problems such as nearsightedness (myopia). ![]()
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