Aniridia: Why Awareness is Close to My Heart

One of the initiatives I am really interested in working on soon will be to spread awareness about a cause that is close to my heart. Have you heard of the disorder sporadic aniridia?

One of my children happens to have been born with it, and I am very interested in creating an educational resource for others who have children affected by it. Here is more about this disorder, and why it means a lot to me.

My third son, Luca was born with this rare birth defect known as aniridia. It occurs due to a congenital defect; mutations of the PAX6 gene, which disrupt the proper development of the eyes. In cases of sporadic aniridia, like Luca’s, the mutation is random, meaning that the gene mutated and was not inherited from either parent. This means he was born without irises in his eyes, and suffers from a form of vision loss as a result. The ability to see can vary for those with aniridia, ranging from a lack of sharpness in vision to an almost total absence of vision. This disorder occurs quite randomly, and is especially rare in children whose parents do not have it; ⅔ of diagnosed aniridia are inherited. The incidence of aniridia is approximately 1 in 50,000 - 100,000, making it relatively uncommon.

Other complications are associated with aniridia, including glaucoma, cataracts, hypoplasia, and foveal hypoplasia, nystagmus, as well as more severe illnesses including Miller syndrome/ Wilm’s tumor, and Gillespie’s syndrome. Because aniridia is so closely associated with Wilm’s tumor, which is a type of kidney tumor, patients require regular kidney ultrasounds to monitor the organs for tumor growth.

Treatment for aniridia depends on a variety of circumstances, including the present vision of the individual who suffers from it. Typically, specialized polarized sunglasses are recommended for use in sunlight/ bright light scenarios, as these can help aniridic individuals see better by reducing the amount of glare. Some surgical methods of implanting irises have been performed and are in the testing/ research phase, however these surgeries are not yet FDA-approved, and their success rates are unknown.

Luca was diagnosed right after birth, as is most typical, and that was when it became apparent that he lacked irises in his eyes. Through the excellent care and support of our pediatric team, he has been able to grow up thus far with minimal impact due to the ever-evolving technology that has become available over the years. While this disorder has definitely impacted our lives, it has taught us so much about overcoming obstacles and working towards goals, despite the curveballs life throws at us. So stay tuned, I am very much looking forward to creating something unique and powerful to further the awareness of aniridia for all of the families who have found themselves in similar situations.