What is Aniridia?

Aniridia is a rare pathological condition of the ophthalmologic system in which the iris which is also the colored portion of the eye is deformed or underdeveloped at the time of birth. The other structures of the eyes may also in some cases be malformed as a result of Aniridia.

The meaning of the word Aniridia suggest absence of pupil but that is not the case as there is a very small ring of iris present in the eye of the child. Since the iris is extremely small in cases of Aniridia, the pupils look extremely large in size and are also irregularly shaped.

Aniridia is a condition which affects both the eyes, although the extent or the severity of the disease tends to vary from eye to an eye. As stated, Aniridia is a rare condition and is estimated to occur in one out of 100,000 people across the globe. Mutation of short arm of chromosome 11 is believed to the root cause of Aniridia.

What is Aniridia?

What are the Causes of Aniridia?

As stated, the root cause of Aniridia is a mutation in the short arm of chromosome 11. This chromosome contains gene PAX6 which is responsible for making proteins required for development of the eyes and its associated structures. The development of the eye usually takes place in between the 12th and the 15th week of pregnancy. This protein is also responsible for development of brain, spinal cord, as well as pancreas. If the gene is mutated it results in abnormal production of proteins responsible for development of eyes causing conditions like Aniridia.

Symptoms of Aniridia: How Does Aniridia Affect the Vision?

The affect on the vision of a child with Aniridia is variable. While some people may have extremely good vision there are cases where children have extremely poor vision as a result of Aniridia. In majority of the cases, the vision of an individual with Aniridia is in the average range.

The affect on the vision virtually depends on the severity and the components of the eyes which are severely affected by Aniridia. There may also be abnormalities in the cornea due to Aniridia which may result in poor vision. The lens of the eye may also get affected due to Aniridia which may also affect the vision of an individual. The optic nerve in some cases also seems to be affected which results in poor vision due to Aniridia.

Retinal abnormalities may also occur resulting in diminished visual acuity of an individual with Aniridia. With that said, there are children who have Aniridia but still have perfect vision. Thus, it is extremely difficult to predict how the vision of a child will be affected by a condition like Aniridia.

Aniridia puts the child at risk for various ocular abnormalities and hence regular and diligent followup with an ophthalmologist is highly recommended for parents who have a child with a known diagnosis of Aniridia.

How Often Eye Examination are Required After the Diagnosis of Aniridia?

Aniridia is a condition which predisposes a child to various ocular abnormalities and hence once this condition is diagnosed then the child will need regular followups and eye examinations from an ophthalmologist. Depending on the ocular abnormality the child has, the frequency of the visits to the ophthalmologist is decided. In severe forms of Aniridia, followups as regularly as once a month may be required so as to provide relief of symptoms of Aniridia.

How is Aniridia Treated?

The treatment for Aniridia depends on the type of abnormality present. Usually a child with Aniridia will have conditions like optic nerve palsy, glaucoma and cataracts. If the child has glaucoma then treatment for this condition can be done either conservatively through eyedrops or surgically.

If cataract is compromising the vision of a child then an intraocular lens may be required or even surgery may be required for clearing off the cataracts caused due to Aniridia. Problems with cornea can be dealt with Artificial Tears which will lubricate the eye and treat this condition that arises out of Aniridia.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: September 26, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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