Coloboma is a birth or acquired defect that affects the eye or eyelid, causing blurred or distorted vision. It can be caused by genetic mutations, prematurity, or fetal injury. Treatment involves reducing symptoms with corrective glasses and anti-inflammatory medications. Surgery may be an option for eyelid colobomas.
A coloboma is a birth defect or acquired defect that affects part of the eye or eyelid. The condition can refer to an underdeveloped eyelid, a hole in the iris, a missing section of the lens, or a deeper defect in the optic nerve. Signs and symptoms depend on which part of the eye is affected, but many people experience some degree of blurred or distorted vision. Doctors are usually unable to correct the actual defect, so treatment generally involves reducing symptoms with corrective glasses and anti-inflammatory medications.
Most colobomas are present at birth due to genetic mutations, prematurity, or fetal injury. In some cases, a coloboma can arise later in life after surgery or direct trauma to the eye. The most common site of the deformity is the iris, the colored circle of tissue that surrounds the pupil. A gap or tear in the iris can create a black spot connected to or near the pupil. Commonly called cat eye syndrome, a coloboma of the iris can cause sensitivity to light and double vision.
Colobomas can also form on the lens, retina, or optic nerve. Such a defect usually cannot be detected by looking at the eye, but it can cause a variety of vision problems. Blurred vision, poor peripheral vision, and eye irritation and redness are common. Rarely, a deep or large coloboma can cause blindness. Eyelid colobomas, in which part of the upper or lower eyelid does not fully form, can leave the eye susceptible to chronic dryness and frequent infections.
Whenever a newborn or elderly patient shows the physical symptoms of a coloboma, they are referred to an ophthalmologist for a careful examination. Your doctor may peer into your eye with a specialized type of microscope to inspect the deformity. He or she also conducts a series of eye tests to determine how much the coloboma affects visual acuity and sensitivity to light. Additional diagnostic screening tests may be performed to check for signs of underlying health problems and other types of defects.
Treatment for a coloboma depends on its location and the severity of the symptoms it causes. In many cases, patients simply need to use soothing eye drops and attend regular checkups with their ophthalmologist. Protective sunglasses may be needed if one eye is particularly sensitive to light, and eyeglasses or contact lenses can help improve vision problems. Eyelid colobomas can often be corrected with a relatively simple surgical procedure. Surgery has not been shown to be safe or effective, however, in treating colobomas within the actual eye structure.
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