Coloboma

What is coloboma?

Coloboma is a congenital eye disorder that individuals are born with. It occurs when a segment of the tissue that forms the eye is missing. This condition can affect one eye or both.

If your child has been diagnosed with coloboma, it is important to consult with your healthcare provider to establish the most effective treatment plan. There are numerous treatment options available that can help them enhance their vision.

What are the types of coloboma?

Coloboma can present in various forms, impacting different areas of the eye, including:

  • Iris (the colored part of the eye)

  • Uvea (the layer of the eye that contains the iris)

  • Lens (the clear inner section of the eye that assists in focusing)

  • Retina (the light-sensitive tissue lining the back of the eye)

  • Macula (the region of the retina crucial for central vision)

  • Optic nerve (the nerve that connects the eye to the brain)

Moreover, coloboma can also affect the eyelids.

What are the symptoms of coloboma?

Some individuals with coloboma may not show any symptoms at all. Others might face vision-related challenges, which can include:

  • Vision impairment or blindness

  • Decreased visual acuity

  • Heightened sensitivity to light

Certain types of colobomas are visible externally. For example, iris coloboma can cause the pupil (the round opening at the center of the iris) to take on a shape resembling a keyhole or a teardrop.

What causes coloboma?

Coloboma occurs when a baby’s eye does not develop correctly during pregnancy due to abnormal or altered genes that affect eye formation. This condition can sometimes be inherited. Environmental factors, such as a mother’s alcohol consumption during pregnancy, may also increase the likelihood of coloboma in newborns.

Coloboma often appears alongside other conditions that impact various parts of the body, such as CHARGE syndrome and Wolf-Hirschhorn syndrome.

How will my child’s doctor check for coloboma?

Coloboma may be evident at birth, allowing the doctor to potentially diagnose it through a visual inspection of the eyes. If the coloboma is not easily noticeable, the physician can confirm the diagnosis through a comprehensive dilated eye examination.

What’s the treatment for coloboma?

While treatment cannot restore the missing part of the eye due to coloboma, there are various options available that can help individuals with coloboma optimize their vision.

  • Glasses or contacts. Individuals with coloboma who experience refractive errors may need eyeglasses or contact lenses for improved clarity of vision. Those with iris colobomas might also consider colored contact lenses to create a more rounded appearance of their pupils.

  • Surgery. Some individuals with iris colobomas may undergo surgical procedures to achieve a more rounded pupil shape. If you have concerns regarding the cosmetic appearance of your eyes, consult your eye care professional about the options available.

  • Low vision aids. For those whose coloboma leads to vision loss that cannot be corrected with glasses or contacts, specialized devices can enhance their ability to see. A low vision specialist can assist in identifying appropriate devices and provide guidance on their use.

  • Eye patch or eye drops. Children with coloboma affecting only one eye may need to wear an eye patch or use specific eye drops to prevent amblyopia (lazy eye).

Both children and adults may require treatment for additional eye conditions associated with coloboma, such as cataracts or glaucoma.

If your child has coloboma, it is essential to discuss the most suitable care plan with their healthcare providers. Children with coloboma often need specialized care and therapy to support their growth and development.

Other eye conditions related to coloboma

Individuals with coloboma may also encounter other issues, including: