Aniridia or absence of iris

La aniridia is a congenital disease in which the eye presents partial or total absence of the iris, the colored part of the ocular structure. This condition is usually accompanied by other eye complications and people who suffer from it have visual impairment throughout their lives.

Aniridia is a chronic and inherited condition and Presents itself, almost always, in both eyes at once, this condition is known as bilateral aniridia.

The people that born without iris present a significant decrease in visual acuity and they usually suffer from refractive errors.

Aniridia or absence of iris

La aniridia is a congenital disease in which the eye presents partial or total absence of the iris, the colored part of the ocular structure. This condition is usually accompanied by other eye complications and people who suffer from it have visual impairment throughout their lives. 

Aniridia is a chronic and inherited condition and Presents itself, almost always, in both eyes at once, this condition is known as bilateral aniridia.

The people that born without iris present a significant decrease in visual acuity and they usually suffer from refractive errors.

What is aniridia?

The word aniridia comes from the Greek and means without iris. Therefore, we can define aniridia as a congenital, chronic and hereditary disease which causes the total or partial absence of the iris in the eyeball. 

The iris is the colored part of the eye that is responsible for adjusting the amount of light that enters the retina, that is, it works like the diaphragm of a camera.

This condition usually affects both eyes and is causing significant photophobia or sensitivity to light. 

People born with aniridia are more likely to suffer from other eye diseases throughout their lives, such as Cataracts, glaucomadegeneration of the cornea, nystagmus, squint, Dry Eye y palpebral ptosis.  

Causes of ocular aniridia

Aniridia is a hereditary disease that can be spread if one of the two parents has an alteration or defect in chromosome 11 of the PAX6 gene.

However, a person can be born with aniridia without either parent having this disease.  

Symptom

Aniridia is a condition that is accompanied by a series of ocular symptoms, among which the following stand out: 

  • Sensitivity to light o photophobia very intense because there is no iris to adjust the amount of light that enters the retina. 
  • Decreased visual acuity It depends on the refractive errors that the person has. 
  • Refractive defects as myopia, farsightedness, astigmatism o presbyopia
  • Amblyopia or lazy eye.

When aniridia is severe, it can trigger blindness and be associated with other major complications such as cataracts and glaucoma.

Rarely, aniridia is associated with Wilms tumor, lens dislocation, and genitourinary malformations.

aniridia

Aniridia treatment

Diagnosing aniridia is very simple, because with the naked eye the doctor can verify the total or partial lack of iris.

Once the absence of the iris has been identified, the necessary explorations are carried out to differentiate aniridia from an iris coloboma.

El coloboma It is also a congenital condition, but it is characterized by a small fissure, hole or defect in the iris that also affects visual acuity. 

To treat aniridia it is important to study the eyeball in depth and rule out the possibility that the patient has glaucoma or cataracts. It is also important to perform tests that rule out the presence of a kidney tumor.

aniridia definition

Currently, the ophthalmologist may suggest the use of cosmetic lenses, but the most innovative option consists of a eye microsurgery that helps rebuild the iris and pupil when the absence is partial.

If the aniridia is total, you can consider placing a 90 or 190 degree annular implants that help simulate the iris. Science has advanced so much that it is now possible to choose to place a artificial and flexible iris of the color that the person wishes and without the need to make any type of sutures.

The early detection of aniridia is vital to propose a preventive treatment in order to preserve visual health as much as possible.

Summary
Aniridia or absence of iris: what is it, causes and treatment
Article name
Aniridia or absence of iris: what is it, causes and treatment
Description
Aniridia is characterized by the absence of the iris in the eye. We explain its cause, its symptoms and its treatment.
Author
Name of the editor
Área Oftalmológica Avanzada
Editor's logo