Our eyes are incredible organs made up of several delicate parts. They're so delicate that if each part doesn't form properly, conditions such as coloboma syndrome may develop. 

A coloboma is a condition in which a baby is born with tissue missing from inside or around the eye. Colobomas can affect both eyes or just one. The type of coloboma depends on where in the eye the coloboma is. There are six different types of colobomas:

Because colobomas are present at birth and newborns don’t have great vision anyway, symptoms of a coloboma may not be apparent right away. The most obvious symptom of a coloboma is a keyhole-shaped pupil common in uveal colobomas. Other symptoms of colobomas can include:

Sometimes colobomas will only affect part of a child’s field of vision, resulting in reduced peripheral vision, issues with depth perception, or a blind spot.

If a coloboma is suspected or visible, an ophthalmologist will perform an eye exam on your baby. The doctor will use an ophthalmoscope, a tool that lets them look into the eye, to determine where the issue is and the extent of the damage.

When your child is older, your ophthalmologist may perform further tests to get a better idea of how the coloboma is affecting your child.

There are no cures for any type of colobomas. Your doctor may prescribe or recommend some things to help your child retain as much vision as possible. These may include:

If the coloboma is in only one eye, your doctor may provide your child tools to prevent amblyopia, also known as “lazy eye,” and to strengthen the eye with the coloboma. These tools may include special eye drops, glasses, or patching the unaffected eye.

Experts believe that colobomas are genetic and that they occur while the baby is in utero. A few months before the baby is born, the eyes form as the optic fissure comes together. If the optic fissure doesn’t come together all the way, the result is a coloboma of some sort.

While there is evidence that colobomas are genetic, scientists aren’t sure yet which genes cause the colobomas. Factors like smoking, using recreational drugs, and drinking alcohol in pregnancy can increase the likelihood that a baby will be born with a coloboma.

Some colobomas will impact vision more than others. Issues that may result from colobomas include amblyopia, cataracts, glaucoma, and retinal detachment.

Amblyopia. Amblyopia occurs when one eye doesn’t develop properly and has reduced vision. It’s sometimes called “lazy eye” because the weaker eye struggles to focus and may wander. It often happens only in one eye and occurs before age seven. Sometimes the weak eye does not wander, in which case symptoms to look for include poor depth perception, head tilting, or abnormal vision screenings. Treatment will depend on the severity and cause of the amblyopia but may include corrective eyewear, options to strengthen the weak eye, and surgery.

Cataracts. Cataracts occur when the lens of your eye becomes cloudy, blurring your vision and making it difficult to see. Aside from blurred vision, other symptoms of cataracts include seeing double, sensitivity to light, difficulty seeing at night, or bright colors looking faded or yellowed. Mild cataracts can be treated with a new glasses prescription, while more severe cataracts may require surgery.

Glaucoma. Glaucoma is the term for eye conditions caused by damage to your optic nerve. Glaucoma is often caused by high pressure in the eye, but there are different types and different causes. Some types may be genetic. The symptoms of glaucoma vary depending on the type of glaucoma but can include blind spots, eye pain, blurred vision, tunnel vision, headaches, and nausea. Treatment can slow the progression of glaucoma, but cannot reverse it.

Retinal detachment. Retinal detachment happens when the retina pulls away from its normal position. This is considered an emergency as it can cause permanent vision loss. Symptoms of retinal detachment include “eye floaters,” or tiny specs that float through your vision in the affected eye, flashes of light, blurred vision, and reduced vision.

The most common type of retinal detachment is called a rhegmatogenous and occurs due to a hole or tear in the retina. This can occur with aging, but it is also the case in chorioretinal colobomas. The solution for retinal detachment is almost always surgery.

If your child’s coloboma is not visible without special equipment, you may not see signs right away. If symptoms begin to show that make you suspect your child has a coloboma, speak with your pediatrician or ophthalmologist right away.

American Academy of Ophthalmology: “Cataracts,” “Lens,” “Macula,” “Optic Nerve,” “Retina,” “Uvea,” “What Is a Coloboma?”

Mayo Clinic: “Glaucoma,” “Lazy eye (amblyopia),” “Retinal detachment.”

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