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What is coloboma?

What is coloboma?

02 June 2022

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Coloboma is an eye condition that occurs from birth, when there is an absence of normal eye tissue.

Coloboma occurs due to abnormalities or altered genes that affect eye development. It is sometimes inherited. Environmental factors, such as drinking alcohol during pregnancy, may also increase a baby's risk of developing this condition.

A coloboma may affect one or both eyes, but if both eyes are affected, its symptoms may or may not be the same in each.

Depending on the part of the eye affected, there are different types:

  • Eyelid coloboma: part of the upper or lower eyelid is absent.
  • Coloboma of the crystalline lens: absence of a part of the crystalline lens, which is the natural lens of the eye.
  • Macular coloboma: the macula does not develop properly.
  • Coloboma of the optic nerve: the optic nerve (the nerve that connects the eye to the brain) is hollow, which reduces vision.
  • Uveal coloboma: the uvea is the middle layer of the eye; this coloboma can affect the iris, which is the colored part of the eye.
  • Chorioretinal coloboma: part of the retina is missing.

The symptoms of coloboma depend on the affected area. That is to say, if the affected area is the eyelid, the absence of tissue will be evident; however, if the patient suffers from macular or optic nerve coloboma, the symptoms will be referred to a decrease in vision. 

Children who lack some part of the retina will have a visual field defect, meaning that they will not have vision in specific places. Sometimes, it presents with an increased sensitivity to light, known as photophobia.

Coloboma can be seen from birth, so the ophthalmologist can diagnose it by observation or by a complete eye examination with pupil dilation.

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