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Congenital Eye Diseases

by Chinomso Ogbugh 08 Feb 2023

At the 4th week of pregnancy, the eye starts its development from the brain with neural tubes and these progressively grows. Eye structures like the optic nerve and retina begin formation.

 The formation of the eyes is a very delicate process as it requires good nurturing and vitamins that are essential for normal development. When there is a glitch during this process that gives rise to an abnormality, a Congenital eye disease has occurred.

In other words, Congenital eye diseases are malformations in the eyes that a child is born with. These diseases vary from minor treatable diseases to diseases with no cure to conditions that cause vision loss depending on the eye structures that are affected.

What causes congenital eye diseases?

  • It can be secondary to a genetic condition.
  • It can be due to an infection while the baby is in the womb.
  • It can also be due to harmful drugs taken by the mother during pregnancy.
  • It can occur without a cause.


How to know your child has a congenital eye disease.

  • When the eyes presents with an abnormal appearance, most often a whitish appearance. Some of them are obvious from birth.
  • When the child’s vision is poor during infancy.
  • When eye movements are abnormal. For instance, Squint eye
  • constant discharge in the eyes right after delivery


Basic eye examination can be done to detect any congenital eye disease. in cases when needed, test such as CT scan, Ultrasound or MRI can be done.



Treatment plan

The treatment plan depends on the type of congenital disorder and also structures of the eyes affected.

Counselling can be given when needed.

What do we advise?

  • affected families should be educated on the specific eye disorder to help the child get better.
  • Family should be on the lookout for such cases as it may have a genetic origin.
  • Make sure the child is placed on special education so as to help the disease progression and prognosis.
  • If therapy is needed, parents should be actively involved to improve child’s vision.

Common Congenital eye disorders : There are a lot of congenital eye disorders but we are only going to talk about a few.

  1. Congenital Glaucoma

    It is only in rare cases that a child is born with a raised eye pressure resulting from abnormal formation of the drainage system i.e. the trabecular meshwork which in turn damages the optic nerve behind the eye. The eye presents with a bluish, cloudy, enlarges appearance, high sensitivity to light and excessive tearing.


In this case, immediate treatment is needed to help preserve any vision that is left in the child. These treatment options are;

  • Glaucoma surgery – Trabeculectomy,
  • Medication – eye drops prescribed to reduce the pressure in the eye.


  1. Aniridia

   When a child is born without the iris (the coloured part of the eye), the child is born with a condition called Aniridia.

The iris is responsible for the size of the pupil, hence, controls the amount of light that gets to the eye.

Aniridia happens when the eyes are still  developing and is due to a genetic mutation. With Aniridia, vision can still be good or slightly bad.


Signs and Symptoms

  • Blurry vision
  • Glare
  • High sensitivity to light

What to do?

Regular eye examination to look out for other complications because Aniridia is most of the time accompanied with cataracts, glaucoma.

And also to correct any refractive error.

  1. Coloboma

     Coloboma is a condition where a part of the eye is missing, it can occur in any part of the eye. The severity depends on the part of the eyes affected, it can also cause loss of vision.

Risk factor

Alcohol intake during pregnancy.

Areas of the eye affected by coloboma are;

  • The lens
  • The macular
  • The eyelid
  • The optic nerve
  • The uvea
  • The iris

Coloboma is caused by genetic mutation during child development. It has no cause by can be managed with therapy, glasses , medications and surgery.

  1. Congenital cataracts

   This is the clouding of the lens inside the eye from childbirth. For a young child, cataract might not give any signs unless there is an obvious opacification of the lens.


  • abnormal development
  • an Infection the mother suffered during pregnancy like Chicken pox.
  • It can come in a systemic syndrome like down syndrome.
  • Premature child birth.





  • Surgery

When congenital cataract is not treated immediately, it can cause;

  • irreversible blindness
  • lazy eye (amblyopia)
  • permanent damage to eye.


Congenital eye diseases are not to be negligent about, watch out for them especially when there is a family history. There are many other Congenital eye diseases and they are very rare. When you notice your child isn’t very responsive when images are shown to him/her, or anything abnormal in the eye, please do not hesitate to go to any eye clinic close to you for proper eye examination. You can visit SpecSMART eye clinic or contact us to book an appointment.





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