Information about aniridia for new parents Aniridia Foundation International New Parent Guide

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We know that for some of you, the diagnosis of aniridia has come as a complete shock. But we are here to help you learn, be supportive, and provide advice. We have members young and old who were born with aniridia and are willing to share their experiences. Parents and families are also involved and can provide support from
their perspective.

Our Medical Advisory Board spans many different specialties of doctors and researchers. They have been chosen because of their experience in treating people with aniridia, or their work in aniridia research and their strong dedication to helping us.

A Message to Remember
It may seem overwhelming now; however, our foundation gives you the tools to learn through our medical conferences where we bring in top doctors experienced in aniridia to speak to you, and support networking with families who have experience with the challenges of aniridia. You will meet many children, teens and adults with aniridia who have excelled despite their limited vision and can help you understand what your child’s life might be like. Grandparents, parents and other relatives are also members and can give their very special perspective and support.

We also have a great resource book about aniridia syndrome, "Aniridia and WAGR Syndrome: A Guide for Patients & Families." Find out more information about the book and how to order at our AFI Store.

Will My Baby See?
Your baby was born with eye structures that are underdeveloped due to a genetic error. The optic nerve, retina, lens, and iris can all be affected and may cause different visual acuities from child to child depending on the extent of underdevelopment. The lack of a fully developed iris will be the most noticeable feature, yet the least of concern. It may look like your baby has dark eyes, however, it is like an enlarged pupil surrounded by the iris stump that never grew. Some with aniridia will most likely experience some sensitivity to light, a medical condition known as photophobia. The absence of iris doesn’t cause blindness; however, proper monitoring by an ophthalmologist who has experience with aniridia will watch for the associated conditions such as glaucoma, cataracts, strabismus, nystagmus and corneal scarring which can limit vision or cause loss of vision. Most young children have a visual acuity of between 20/80 and 20/200. The ideal vision of a person is 20/20. A baby’s visual acuity can be estimated early in life by how they react to parents faces, their interest in objects and the ability to follow objects from side to side. Since infants with aniridia have some vision, they should learn to walk and develop as a child appropriate for their age. However, there may be depth perception difficulties. This may cause some problems with hand-eye coordination. For this reason, kids may seem clumsy and should be careful when walking around changes in the ground level and near steps. Fortunately, there are many adaptations that can help.

What is Photophobia?
Think of the eye as a camera and the shutter is the iris. If too much light is let into the camera lens, the picture will be washed out or overdeveloped. This makes the definition of objects hard to see. When too much light falls onto the retina, it can cause discomfort and loss of visual acuity. Artificial lighting indoors can also cause glare. Some children may try to control light by squinting or have a condition known as ptosis (toe-sis). This is where the eyelids droop to compensate for the light entering the eye. Often it may look like the child is sleepy to others who do not know of the eye condition. Vision can be diminished for anyone when glare is involved. For this reason, pick sunglasses for babies and children with polarized lenses to block out the glare. There are special sunglasses made for babies and a brimmed that can also help.

Why do Doctors want Genetic Tests?
Aniridia is produced by a failure in development of the ocular globe during pregnancy due to a genetic mutation in the short arm of the chromosome 11p13 affecting the PAX6 gene, which is responsible for the formation of the eye. About 2/3 of all cases are inherited (familial), but it can also happen sporadically (neither parent has it). The error can occur in the father’s sperm, in the mother’s egg, or after conception. Aniridia is an autosomal dominant condition which means it only takes one defective PAX6 gene to produce this eye condition. When the parent has aniridia and passes it on to their child it is known as Familial aniridia. When the person with aniridia is involved with a pregnancy, there is a 50 percent chance with each pregnancy, that the child born will also have aniridia. In Aniridia Foundation International there are many families who have several generations of members with aniridia. Sporadic aniridia happens in the other 1/3 of aniridia cases. Of the sporadic cases,1/3 of those will have a more severe disorder called WAGR syndrome. This is caused by a larger deletion of the 11th chromosome involving the PAX6 gene and the nearby WT1 gene, responsible for the Wilms’ tumor. WAGR syndrome stands for Wilms’ tumor (cancerous tumor of the kidney usually occurring before age 8 years old), Aniridia, Genitourinary abnormalities or Gonadblastoma, and Retardation. To be diagnosed with WAGR, a child will have aniridia and at least one of the other symptoms of WAGR. This is why doctors want to have genetic tests. It will give them an idea of what to watch out for medically and developmentally so that your child can get the best possible care and monitoring. Doctors suggest that all children up to eight years old with sporadic aniridia have ultrasounds every 3 months to monitor their kidneys, unless genetic testing has revealed an intact WT1 gene. There have been reports of older people getting Wilm’s tumor; however, it is rare. Many parents move to a longer interval between ultrasounds after age eight, after consulting their doctor.

Early Intervention is Important
When your baby is diagnosed with this low vision eye disorder, you should contact your Department of Human Services to inquire about early intervention options and an assessment. Therapists will work with your baby to help him or her develop to his or her best potential. There are many moms and dads in Aniridia Foundation International that can help you with information and support you during this difficult time.
New Parent Guide