Treatment & Diagnosis

Diagnosis for aniridia typically occurs after birth, however that is not always the case. Complete diagnoses are conducted via clinical examination by an opthamologist who is experienced with the disorder using a simple yet specific eye exam. Genetic testing is also used to examine the PAX6 exon or whole-gene deletions, particularly in those who have sporadic aniridia.

WHAT DOES THE DIAGNOSIS MEAN?

A diagnosis of aniridia means that your child was either born with only a portion of, or entirely without irises in their eyes. It can certainly come as a tremendous shock to parents who are facing this, however with modern medicine and the many innovations in ophthalmology, a great many measures can be taken to assist with the hardship of dealing with aniridia.

While children whose aniridia is managed well do have the chance at having great childhoods, technology that is ever-changing, ever-evolving, and ever-improving continues to present new ways of managing and handling the challenges aniridia can present. With the proper adjustments and support system, children with aniridia can enjoy a great range of activities, however the right care is essential to maintaining their well being.

Cases of aniridia are not only rare, but there is an enormous range of variety between them, with vision loss ranging from severe to minor. As aniridia can be part of other diagnoses such as WAGR, Gillespie’s syndrome, or Miller syndrome, it is important to undergo genetic testing to determine whether the case of aniridia has been cause by a mutation of the PAX 6 gene, or a total depletion of it. Familial aniridia is generally the result of a mutated PAX 6 gene (hence being inherited), while sporadic aniridia is typically associated with total PAX 6 deletion. This incidence is often related to a higher likelihood of developing Wilm’s tumor, making it essential that kidney ultrasounds are performed regularly to monitor kidney health.

One of the best methods for tackling aniridia has been to implement a system in place for early intervention. This can drastically improve the outlook for managing the severity and symptoms associated with aniridia. It is entirely essential that babies diagnosed with aniridia receive care immediately from a pediatrician experienced with the disorder, as well as a referral to an experienced opthamologist who understands the appropriate course of action. Establishing a treatment plan, along with implementing a regular schedule of monitoring for the child can be crucial to their overall long-term health.

Treating Aniridia

Treating aniridia is done in a multitude of ways, as there are many different variations of the disorder, as well as accompanying symptoms. Treatment is highly individualized, which is why having the support of the appropriate doctors and medical staff is especially important. Here are some of the many varieties of methods used to treat individuals with aniridia:

• Lubricating the eyes with artificial tears. This is simple, readily available method of treatment can help with cornea maintenance.
• Comprehensive low-vision exams. These are recommended to get an accurate understanding of the level of vision.
• Specialty eyewear. Innovations in a variety of different types of eyeglasses designed for those with vision loss, and aniridia have become more available. For certain individuals, these glasses can improve vision immensely.
• Opaque contact lenses or those with colored tint are often used to enhance vision, as well as the appearance of the eye lacking iris. This method of treatment can often assist by minimizing glare or photophobia.
• The use of absorptive sunglasses also assists with managing symptoms of glare and photophobia.
• Though there is risk involving complications, certain individuals with aniridia may qualify for surgical implantation of artificial irises.
• As aniridia is known to cause early onset of cataracts, cataract removal surgery is common among those who have aniridia to manage them.
• It is especially important for those with aniridia to be monitored for glaucoma, and this related disease should be treated aggressively with laser treatment, surgery, and medication.
• A variety of specialized vision rehabilitation methods are used to assist some of those suffering from aniridia. Optical, non-optical, and electronic low-vision devices are implemented for treating aniridia, depending on the individual circumstances.