Greensburg Daily News, Greensburg, IN

Features

September 1, 2010

Parents, Children With Eye Condition Defy Stigmatisms

Greensburg — Toddlers frolicked across the trampolines at Gymnastics and More, Saturday, the sounds of their laughter adding to the festivity of 2-year-old Anastasia Ridzon's birthday party.

Ridzon was born with aniridia, passed on to her by her mother Cheree Ridzon, who has been a source of inspiration and comfort to other parents of children with the condition. At this birthday party, Laura Mueller from Ft. Wayne held the hands of her 9-month-old daughter Lucia Mueller as she toddled around. Jessica Warner of Cincinnati also watched her daughter Kayla Warner wandering around and enjoying the day.

The celebration and the children's enjoyment of it is something that Mueller and Warner questioned when their daughters were born. Doctors did not know why their babies did not have a color to their eyes, and the parents later learned that the lack of an iris - a hallmark of the condition - is only one element of a genetic cocktail that they did not yet fully understand.

Ridzon explained that aniridia effects about one in 50,000 births with varying outcomes. For most children born with the condition, the first four months of their lives are spent in darkness, with vision developing after that point. Since the condition is centered on the Pax6 gene, she explained, the musculature of the eyes is effected, leading not only to the lack of an iris but also to nystagmus - a condition in which the eye moves involuntarily - in many cases.

Warner and Mueller explained that in their research about the condition, they found worry that they would never play outside with their little ones, that they would have developmental delays and face a plethora of medical issues. While it is true that aniridia can signal a wide array of other conditions, both in the eyes and elsewhere, it is hard to predict exactly what will take place as the children grow, Ridzon explained. There are challenges to developing sight months after birth that can lead to other developmental delays, she continued, but children tend to learn to live with what they have, often rebounding from any delays within the first few years of their lives. Programs such as First Steps and Early Intervention play a role in assisting in this process, Ridzon explained. Light sensitivity, while frequently suffered by aniridics, also varies from person to person.

"I don't have any problems with light except in the snow," Ridzon noted.

For those who are more light sensitive, a hat and a good pair of sunglasses are usually all that is needed to compensate, she explained.

The youngsters do have many doctor visits ahead of them, with opthamologists to watch out for glaucoma, cataracts, retinal detachment and other eye issues often related to the condition as well as physical and occupational therapists to assist them in navigating the world as legally blind individuals.

Some people with aniridia don't even show the hallmark sign of lacking an iris, Ridzon explained. The only sure way to know is to have genetic testing completed.

Through challenges with depth perception and vision in general, aniridics grow up to become individuals with a variety of needs and methods of compensation. Assistive devices make driving a possibility for some. Others develop an affinity for dark sunglasses and tinted windows to help block light. Each one finds ways to live the life they want to live, Ridzon noted.

"It's an inconvenience, not a tragedy," said Warner of living with her daughter's condition.

At first, both Warner and Mueller were depressed by the diagnosis and worried about their children's future.

"Cheree has really helped," Mueller said, "by showing us the kind of life adult aniridics live."

There are inconveniences along the way, Ridzon explained, such as being accused of being intoxicated because of her large irises, nystagmus and lids that droop slightly to adjust for ambient light levels. Mueller noted that one aniridic man she has talked with has been pulled over for speeding three times and been taken to jail each time until his condition can be verified. Little Lucia Mueller has also experienced strangers pulling away from her to ask her mother "what's wrong with her eyes."

Still, Mueller and Warner aren't rushing to find iris transplant opportunities for their daughters.

"Her eyes are beautiful just the way they are," Mueller said of her daughter. "If she wants to do that later in life, it will be her choice."

To learn more about aniridia, visit Aniridia Foundation International at www.aniridia.net.

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