What is aniridia?
Aniridia is an inherited, congenital eye disorder that usually occurs in both eyes and is characterized by incomplete development of the iris.
Although the term aniridia etymologically refers to the lack of the iris of the eye, it is only the lack of formation of part of the iris, which has not fully developed.
Prognosis of the disease
The prognosis is quite complex to specify, since each person is different and each eye may present different starting situations, so the evolution will depend on it.
Therefore, the approach to the pathology, with its corresponding alterations, will be carried out in a totally individualized way and the results, as it is a low incidence pathology, cannot be taken into account in a generalized way.
Symptoms of aniridia
Due to the incomplete formation of the iris, vision is altered, decreasing up to 20% in some cases. In addition, aniridia can lead to various visual diseases, such as glaucoma or cataracts.
Common symptoms are:
- Very large pupils from the moment of birth.
- Photophobia
- Glaucoma: In about half of the cases, eyes with aniridia have difficulty in removing fluid from inside the eye.
- Nystagmus
- Loss of corneal transparency
- Lack of development of the optic nerve and macula, the central part of the retina responsible for detail vision. If associated with aniridia, it can cause low visual acuity.
- Cataracts
- In some cases, aniridia can be associated with the existence of kidney tumors.
The first diagnosis in newborns is visual, as the baby closes its eyes in the presence of light (photophobia).
Medical tests for aniridia
The first diagnosis made in newborns is visual, since the baby closes its eyes in the presence of light (photophobia). This is the main sign that can be appreciated, although the ophthalmologist must check and determine the severity, as well as possible associated alterations.
There are several tests for a correct diagnosis:
- Chromosomal banding
- FISH
- Renal ultrasound examinations
- Imaging of the abdomen and brain
What are the causes of aniridia?
The causes of this eye disorder can be:
- Hereditary
- Spontaneous mutation: It is associated with variations in the PAX6 gene that is involved in the development of the eye.
In addition to an underdeveloped iris, the patient may also have an underdeveloped eye in general, including an underdeveloped retina.
Can it be prevented?
As an inherited and congenital eye disorder it cannot be prevented.
What is important is to perform a genetic diagnosis on children born with this disease in order to know the degree of the lesion. In addition, there must be exhaustive annual follow-ups by pediatricians and specialized ophthalmologists in order to detect and treat associated pathologies in an early manner, trying to provide a better quality of life for affected patients for a longer period of time.
Treatments for aniridia
So far, there is no specific treatment for this disease, what must be taken into consideration is that as many diseases are associated with aniridia, each disease must receive its own treatment according to its symptomatology.
In short, there is currently no treatment that encompasses all the symptoms of aniridia, so each symptom must be treated individually.
The use of cosmetic contact lenses is an option, but current ocular microsurgery allows in many cases the reconstruction of the iris and pupil in partial defects. With total or subtotal defects it is possible to use 90° or 180° annular implants that form a complete iris. The most innovative is the Artificial Iris (Dr. Schmidt, Humanoptics), a flexible iris with personalized color according to a photograph, which allows its implantation without the need for sutures.
Which specialist treats it?
The ophthalmologist is the specialist who helps prevent, diagnose and treat diseases that affect the eyes and the patient’s visual capacity, including aniridia.
The eyes are the essential organ of vision and are susceptible to many abnormalities throughout life. Ophthalmology is in charge of preserving the patient’s visual capacity, through medical treatment techniques, surgery or with the help of external elements such as glasses or contact lenses.