To raise awareness and publicize this rare and congenital disease, the International Day of Aniridia is celebrated on June 21 , a pathology that affects one of between 80 thousand and 100 thousand people in Spain.
As its name suggests, it is a disease in which the patient does not have an iris in either eye, which significantly undermines his vision and quality of life. In Spain, according to data from the Spanish Aniridia Association , there are 470 people affected by this disease.
What is aniridia and what causes it?
People with aniridia are born with the absence of irises in both eyes, either total or partial . The absence of the colored part of the eye – which dilates and contracts depending on the light that reaches the eye – means that the entry of light into the eyes is not controlled and the pupil is constantly open.
This causes, in addition to partial vision, that a series of visual pathologies appear throughout the life of the person who suffers from it.
Aniridia is a genetic disease , that is, it develops due to a mutation in Gene pax 6. This mutation can be inherited from one of the two parents or sporadically, which occurs spontaneously without having a family history. From that moment on it becomes hereditary.
Olga Esteban in optical-optometrist expert in visual therapy
“The goal of vision therapy is to bring all the skills that comprise vision to their fullest potential.”
What are the consequences of suffering from aniridia
The main consequences are those derived from the absence of the iris and not controlling the entry of light to the retina, which generates photophobia (abnormal intolerance to light), glare and poor vision.
But this genetic disease can produce many other alterations in the structures of the eye, since 90% of people with aniridia have other malformationsin the optic nerve, cornea, or lens, further affecting your vision.
For this reason, it is very common for people with this disease to have visual acuity less than 20%, difficulty seeing from afar, farsightedness … and to develop cataracts, glaucoma, lens dislocation, corneal degeneration, ptosis over time. palpebral, optic nerve atrophy, dry eye, nystagmus, amblyopia or strabismus.
In addition, as it is a genetic disease, there may be other parts of the body affected beyond the eye . Thus, aniridia may appear related to other alterations, such as
• Kidney pathologies (tumor or Wilms syndrome)
• Genito-urinary malformations
• WAGR syndrome, which affects 5% of patients
• Gillespie syndrome
• Cerebellar ataxia, present in 2% of people with aniridia
How Aniridia is Treated
Aniridia can not be prevented, reversed, or cured, but it can be treated , especially so that the child reaches its maximum visual potential and to treat associated pathologies. For this, it will be necessary to do, from the birth of the child, an exhaustive follow-up of the disease to tackle any possible problems that may arise.
In addition to the eye, you will need to regularly monitor for kidney or urinary problems, at least until the child grows up.
They create shoes with motion sensors aimed at the blind or visually impaired
The treatment of aniridia is mainly focused on treating or operating the possible associated pathologies when they arise, such as cataracts, glaucoma, etc. since the patient reaches his greatest visual potential and has the best possible quality of life. To do this, they will undergo early visual stimulation treatments as a child to develop vision and motor skills.
In addition, it is common for them to need visual aids , such as glasses, contact lenses, magnifying glasses, telescopes, lecterns, flexes with built-in magnifying glasses , adapted books with large print, special computer programs, and special sun filters and sunglasses to reduce photophobia.
There are also some surgical treatments, such as the implantation of an intraocular lens to reduce photophobia. Also, when trying to ‘build’ an artificial iris, it also has an aesthetic function. Although it helps, the benefits of this technique are limited, as an artificial iris does not expand or contract like a natural one. In the most severe cases of corneal degeneration, a corneal transplant may be performed.
Regarding the prognosis and quality of life of patients, it will depend on the degree of vision of those, but since it is a chronic pathology that has no cure, it is likely that it requires support throughout life. Even so, with the appropriate treatments, follow-up and support, people with aniridia – as with any visual disability – can develop perfectly and study, work and even play some sports.