Aniridia and What You Should Know About It

The role of the iris is to regulate the flow of light going into the eye. A healthy iris allows for just the right amount of light to reach the retina by controlling the pupil properly. When a person has Aniridia, however, this function is impaired or becomes impossible to fulfil.  


What is Aniridia?

Aniridia is a condition where the iris is partially or completely missing from the eye. This occurs due to its underdevelopment and can be observed from the very birth of a child that is affected by it. Due to the lack of iris, the pupil can appear much larger.

This condition can appear alone or can also occur along with other conditions such as Nystagmus. It can appear either in one eye only or in both. In cases where both eyes are affected, the severity normally differs between the two.

There are multiple other conditions, such as Glaucoma and Cataracts, that become more likely to develop due to Aniridia. These conditions can additionally contribute to vision impairment. Thankfully, this condition is very rare.

What are the symptoms of Aniridia?

There are a number of symptoms that can appear with this condition. The easiest way to diagnose it is due to the appearance of the eye, when the pupil is misshapen. This condition, however, is not always easy to spot. Other symptoms that can hint at it can be:

  • High sensitivity to light, its severity depending on how much of the iris is affected.
  • Nystagmus and Strabismus can also be signals that something might be wrong.
  • Field and sharpness of vision can be affected.


Who is at risk of having Aniridia?

Mutations in the PAX6 gene cause Aniridia. There are a few genes that have been confirmed to cause the condition. Inheritance mostly happens through autosomal dominant pattern, which means that there is a 50% chance that the affected parent will pass down the affected gene. There have also been instances where genetic causes for this condition could not be found.


How do you treat Aniridia?

There is no cure, however there are multiple aids that can help people affected by this condition. One of the solutions that will help against light sensitivity are tinted lenses and sunglasses. Since controlling the light can be hard or impossible, the heightened sensitivity can pose a serious discomfort. Tinted lens and glasses can significantly improve those symptoms.

Support and counselling are important for overcoming the psychological impacts of Aniridia, as well. In milder cases, vision might not be affected, but the way it affects the shape of the iris can be a hit on confidence.

Artificial iris implants have also been introduced recently. This is another option to battle glare and photosensitivity. It is also a great solution when it comes to mitigating the psychological effect that having a misshapen iris can cause in a person, as it makes the iris look normal.

Visual aids such as magnifiers can be significant in overcoming any loss of visual acuity that the patients may experience. There are also a number of treatments for accompanying conditions that can co-exist or be caused by Aniridia. Handling them can significantly improve the vision of the affected person.