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. This function however can be impaired or impossible, when a person is suffering from Aniridia.

 

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 or have

This condition can appear alone or can also occur with other conditions such as nystagmus. Aniridia can appear only in one eye, but can be in both as well. 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 are more likely to develop due to Aniridia, which 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 cause 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 lens and sunglasses. Since controlling the light is harder or impossible, the heightened sensitivity can pose a serious discomfort. Tinted lens and glasses can significantly improve those symptoms.

Artificial iris has also been introduced recently and is another option to battle glare and photosensitivity. It is also a great solution when it comes to mitigating the psychological effect of having the condition as it solves the cosmetic issues that Aniridia may cause to the eye.

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. 

 

Aniridia can be an unpleasant condition to deal with. In milder cases vision might not be affected, but there could still be the issue of the shape of the iris which can be a hit on confidence, so support and counseling are important for overcoming the psychological impacts of it.