The “A” in WAGR syndrome stands for “Aniridia.” Nearly all children with WAGR syndrome have aniridia, but cases of WAGR syndrome without aniridia have been reported.
Aniridia is an eye condition named after its most obvious symptom and literally means “without irises” (the colored part of the eye). However, most people with aniridia have some iris tissue, though it may be such a small amount that it is visible only when seen through an ophthalmoscope. People with Aniridia have an enlarged pupil. This enlarged pupil makes their eyes appear to be very dark.
Aniridia most often occurs when it is inherited from a parent who has aniridia themselves. This is called familial aniridia. The second most common form of aniridia is not inherited, and is called sporadic aniridia. Both familial and sporadic aniridia are the result of mutations in a gene called the PAX6 gene.
In WAGR syndrome, aniridia occurs as a result of a deletion of the PAX6 gene. Both forms of aniridia are currently thought to have similar effects on the eye.
Aniridia is a developmental disorder; the eye stops growing properly early in pregnancy, which can cause different types of problems in the eye later in life. The following conditions may be present at birth, or may develop later in life:
- Glaucoma: increased pressure within the eye. People with Aniridia have a particularly high risk of developing glaucoma, and it may be very difficult to treat. Regular testing should begin at birth.
- Cataracts: areas of clouding in the lens of the eye. Often present at birth. Cataracts do not require surgical removal unless they interfere with useable vision.
- Macular or Foveal Hypoplasia: underdevelopment of the fovea or macular region of the retina. Macular hypoplasia is a frequent cause of poor vision. It is not correctable with glasses.
- Aniridic Keratopathy: also called “corneal pannus.” Keratopathy is a clouding of the cornea of the eye caused by an overgrowth of blood vessels. Keratopathy may be noted in childhood or adolescence, but more often is diagnosed the ages of 20 and 40. The risk of developing keratopathy is increased by eye surgery.
- Aniridia Fibrosis syndrome: formation of excess fibrous connective tissue in the anterior chamber of the eye. Most often a complication of surgical procedures in the aniridic eye. Risk increases with multiple surgeries. Early surgical intervention is recommended.
- Nystagmus: is an involuntary eye movement. It is extremely common in people with aniridia. The degree and direction of eye movement can vary greatly from person to person. More information about nystagmus can be found on the website of the American Optometric Association
- Ptosis: an abnormally low position (drooping) of the upper eyelid. Ptosis occurs when the muscle that usually raises the eyelid is not strong enough to do so. Ptosis is sometimes associated with aniridia. It may be present at birth, or noted within the first few months of life. Ptosis may also occur as a side effect of Vincristine, a chemotherapy drug commonly used to treat Wilms tumor. If necessary, ptosis can be treated with surgery.
While medical treatment of complications of aniridia can be challenging, progress is being made. Advances in the treatment of aniridia include the continuing development of artificial irises and artificial corneas, however these advanced treatments are currently under study, and are not appropriate except in specific circumstances.
Frequently Asked Questions About Aniridia
Lack of an iris alone does not cause blindness. Functional vision in an individual will depend on the type and degree of other conditions, such as the development of the macula, the presence of cataracts, or the degree of glaucoma. The amount of functional vision can vary dramatically between individuals, but most people with Aniridia have visual acuities in the 20/80 to 20/200 range.
Visual Acuity (the ability to see) is measured in the following way:
- 20/20 = what the average person can see at 20 feet, the individual being tested sees at 20 feet.
- 20/80 = what the average person can see at 80 feet, the individual being tested can only see at 20 feet.
- 20/200 = what the average person can see at 200 feet, the individual being tested can only see at 20 feet.
Whether a baby can see can usually be determined fairly early in life by their interest in lights, objects, and faces, and their willingness to follow these objects of interest from side to side. Facial expression also suggests active vision.
But while parents of typically-sighted children usually note these early signs of vision in infants 2 weeks to 3 months of age, it is not unusual for babies with aniridia to begin to display them at a much later age. Parents of children with aniridia often say that their child seemed to “wake up” visually as late as 6 to 9 months of age.
Because it is likely that your child will have some vision, it’s important to provide many opportunities for them to use the vision they have. There are many books and resources to assist parents with activities which will encourage their child with low vision to develop to their full potential.
Photophobia is common in people with aniridia. Photophobia literally means “fear of light.” It is not a true phobia/fear, but a medical condition in which a person feels discomfort or pain in the eye when bright light is present. People with aniridia may experience this discomfort in sunlight or indoors. In the normal eye, the irises provide protection against the sun. Since studies have shown that too much sunlight on the retina may increase the risk for cataracts in all humans, people with aniridia must be particularly careful to protect their eyes when outside.
Small children with aniridia seem to have an especially difficult problem with sensitivity to light. This difficulty seems to lessen as they grow older, perhaps because they learn other ways to control the amount of light that enters the eye by squinting. Artificial (indoor) light is not harmful to people with aniridia, and is usually not bright enough to be uncomfortable, so it is not necessary to darken indoor lights for a child with aniridia. When out of doors – even on cloudy days – dark sunglasses and a hat are important for both protection from ultraviolet rays and for comfort and safety.
One of the first questions families ask about their child with aniridia is whether prescription glasses would be helpful for them. To answer this question, it is important to understand how prescription lenses work. Glasses correct vision when the eye is “near-sighted” or “farsighted” (or a combination of these). These problems are the result of the front of the eye being slightly shorter, longer, or more irregularly shaped than is normal. This irregular shape distorts light as it comes into the eye, and causes blurred vision. Placing a lens in front of the eye corrects the distortion, and allows vision to be clear.
Some people with aniridia are near-sighted or far-sighted, and glasses can improve that aspect of their vision. However, most people with aniridia have decreased vision as a result of abnormalities at the back of the eye, in the fovea or macula. These abnormalities cannot be corrected with glasses.
In years past, special contact lenses were often prescribed for people with aniridia. These contact lenses had an artificial iris painted on them, and were thought to help decrease glare. In more recent times, dark tinted contact lenses have been used for the same reason.
Research on aniridia shows that the aniridic cornea lacks certain important cells, called “limbal cells,” which allow normal regeneration and repair. Without these cells, the aniridic cornea does not heal well after surgery, and can become scarred and opaque even when no surgery has been done. This scarring is called “aniridic keratopathy,” or sometimes, “corneal pannus.” Because of this poor healing ability of the cornea, the use of contact lenses for people with aniridia is now discouraged except in certain cases.
An optometrist is not a medical doctor, but a “doctor of optometry” (O.D.). Optometrists diagnose vision problems and eye disease, prescribe eyeglasses and contact lenses, and prescribe drugs to treat eye disorders. They cannot perform surgery, but they often provide patients with pre- and post surgical care. Sometimes ophthalmologists and optometrists work in the same practice and co-manage patients.
An ophthalmologist is a physician who specializes in the medical and surgical care of the eyes and visual system and in the prevention of eye disease and injury. They provide a full spectrum of care including routine eye exams, diagnosis and medical treatment of eye disorders and diseases, prescriptions for eyeglasses, surgery, and management of eye problems that are caused by systemic illnesses.
Eye Care Basics
Infants with aniridia should be referred for care by an ophthalmologist as soon as possible after diagnosis.
Eye Care for the infant or child with aniridia should include:
- Examinations approximately every 3 to 6 months-more often if complications such as glaucoma are identified.
- Thorough examination of all the structures of the eye. This examination may require EUA (Exam Under Anesthesia) during infancy and at periodic intervals throughout early childhood.
- Ocular photographs at the initial visit or EUA, if possible, and repeated if and when ocular changes occur.
- Tests for refraction (near or farsightedness), intraocular pressures, eye alignment, muscle strength, and other tests as necessary.
Your child’s ophthalmologist should also discuss with you: the importance of protecting your child’s eyes from sunlight, signs and symptoms of infection, glaucoma, and whom to call if you have questions or suspect a problem.
Sometimes infants and children with aniridia require eye drops for infections or glaucoma. Because of the sensitivity and decreased healing ability of the aniridic cornea, you may want to remind your eye doctor that all eye drops should be preservative-free whenever possible.
There are several ways to instill eye drops with a minimum of fuss. Here are some suggestions from other parents:
- Infants – wrap in a towel or blanket (to keep arms/hands down), place child on his back on the floor facing away from you, with his head between your knees. This will allow you to keep him from turning his head, while still having both hands free.
- Place a drop in the corner of (closed) eye. Wait…when child opens the eye, the drop will go in.
- Instead of trying to push the eyelid up, try pulling the lower eyelid down. Place the drop inside the “pouch” created in the lowered lid, and release.
Just Diagnosed: A Guide for Parents” Hannah James, Aniridia Network International, and Kelly Trout, BSN, RN, International WAGR Syndrome Association
Last updated: March, 2015
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