Coloboma of the Eye

Coloboma is a general term of congenital eye condition in which there is a gap or missing piece in one or more structures of the eye. The gap or missing piece is caused by incomplete development of the eye during fetal development. The word coloboma is derived from the Greek koloboma, meaning mutilated, curtailed, or with defect.

Colobomas affect around 1 out of every 10,000 babies born each year. Because not all cause noticeable symptoms, that number might be higher. Some people may have an undiagnosed coloboma and never have symptoms or complications.

Coloboma can affect one or both eyes and can vary in size and location. The most common type affects the iris, but they can affect other parts of the eye. 

Iris: This type of coloboma affects the colored part of the eye (iris). It can cause the iris to appear irregular or have a keyhole shape.

Retinal: This type of coloboma affects the part of the eye that senses light and sends visual information to the brain. It can cause vision loss and other visual problems.

Lens: In this type of colooma there is a gap or absence of tissue in the lens, which can cause blurred vision, sensitivity to light, and other vision problems.

Optic nerve: This type of coloboma affects the optic nerve, which transmits visual information from the eye to the brain. It can cause vision loss and other visual problems.

Macular: This type of coloboma affects the macula, which is a small area in the center of the retina that is responsible for sharp, detailed vision. It can cause problems with central vision and visual acuity.

Ciliary body: This type of coloboma affects the ciliary body, which produces the fluid that helps nourish the eye. It can cause glaucoma and other vision problems.

Eyelid: This type of defect affects the eyelid, causing a gap or absence of tissue in the eyelid. This gap may be partial or complete and can affect the upper or lower eyelid or both. Depending on the size and location of the coloboma, it can cause vision problems or exposure of the eye to the environment, which can lead to dryness and irritation.

Each type of coloboma can have varying degrees of severity and may affect vision differently, depending on the location and size of the defect.

Treatment for coloboma

Treatments depend on severity of the defect, as well as the individual’s overall eye health and vision needs. Here are some common treatments for different types of coloboma:

Iris: Treatment for iris coloboma typically involves correcting vision problems with prescription eyeglasses or contact lenses. In some cases, cosmetic procedures may be recommended to improve the appearance of the iris.

Retinal: Treatment for retinal coloboma depends on the location and size of the defect. In some cases, corrective lenses or vision aids may be recommended to improve visual acuity. Surgery may be necessary in cases where the coloboma is causing significant vision loss or other complications.

Lens: If the coloboma is mild and does not significantly affect vision, prescription lenses such as eyeglasses or contact lenses may be recommended to correct refractive errors and improve visual acuity. In more severe cases, surgery may be recommended to remove the affected lens and replace it with an artificial lens implant. This is known as cataract surgery and is a common procedure for treating lens coloboma.

Optic nerve: Treatment for optic nerve coloboma may involve corrective lenses or visual aids to improve vision. In some cases, surgery may be recommended to repair the defect or prevent further damage to the optic nerve.

Macular: Treatment for macular coloboma may include corrective lenses, visual aids, or surgery to repair the defect or improve vision.

Ciliary body: Treatment for ciliary body coloboma may involve medication to manage glaucoma or other complications. In some cases, surgery may be necessary to repair the defect or alleviate pressure on the eye.

Eyelid: Treatment for eyelid coloboma typically involves corrective surgery to repair the gap in the eyelid and protect the eye from exposure to the environment.

Some colobomas may not require treatment if they do not cause significant vision problems or other complications. It is recommended to have regular eye exams to monitor the condition and ensure appropriate treatment if necessary.


Gregory Scimeca, M.D.
Ophthalmologist and Medical Director
The Eye Professionals

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