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Rhiannon KayBritish woman without iris
Date of Birth: 28.09.2016
Country:  Great Britain |
Content:
- A British Girl Without Irises
- A Rare Genetic Anomaly
- The Challenges of Aniridia
- A Life of Adaptation
- Aniridia's Potential Complications
A British Girl Without Irises
Born without irises, two-year-old Rhiannon must wear sunglasses every day due to her extreme sensitivity to light. Her congenital condition has also led to other serious health issues...
A Rare Genetic Anomaly
The Norfolk girl's eyes are completely black due to a rare genetic condition called aniridia, which results in the absence of the "colored part of the eye." The iris is responsible for dilating or constricting the pupil; without it, Rhiannon Kay is unable to control the amount of light that enters her eyes.
The Challenges of Aniridia
The toddler's parents, 36-year-old Theresa and 38-year-old Vaughn, must keep their home dimly lit during the day. Even in winter, their child wears glasses with adjustable tints, which have unfortunately led to some teasing. "When Rhiannon was born, the doctors did some tests and explained that there was something odd about her pupils," recalled Theresa. "They told us that she didn't have irises. But at that time, we didn't realize what implications that would have."
According to Genetics Home Reference, aniridia occurs in approximately one in 75,000 children. The condition is caused by a mutation in the PAX6 gene; in rare cases, aniridia patients experience behavioral problems, developmental delays, and other issues. Kay would constantly roll her eyes, prompting concerned doctors to eventually diagnose her with nystagmus, a high-frequency involuntary oscillatory movement of the eyes. The toddler has also developed cataracts and is at risk for other eye conditions in the future.
A Life of Adaptation
Despite her multiple challenges, Rhiannon is still able to see things from close range. Artificial iris implantation is an option outside the UK, but Theresa and Vaughn have opted against putting their daughter's eyes at risk with surgery. Kay currently attends preschool each week, where the rooms are kept organized to help her navigate well. "We think she has a lot of trouble distinguishing things in the distance," Theresa said. "But she can feed herself, play with her toys. She loves watching TV and cuddling up with her Disney dolls."
"Rhiannon has very good hearing. She can hear cars pulling up outside the house when I can't hear a thing."
Aniridia's Potential Complications
As children with aniridia age, they may develop glaucoma and cataracts. However, Kay's parents were shocked to learn that aniridia can also increase their risk of kidney cancer (Wilms' tumor). According to Theresa, she often receives rude comments from strangers about her daughter, who they find strange for wearing sunglasses in winter. Some onlookers even compare Kay to musician Elton John.
"Even when she was a tiny baby, people felt free to say, 'Why on earth do you have sunglasses on that child?'" Theresa recalled. While the parents have grown weary of constantly explaining the situation to the curious, they believe that raising awareness about aniridia can help educate the public.
In the quest to provide their daughter with a "normal childhood," Theresa and Vaughn never discourage Rhiannon from exploring and being "the most amazing, chattiest two-year-old." "It's just a case of adapting things to suit Rhiannon," explains Theresa.
To raise funds for the Aniridia Network and the NNAB (which has been helping people with sight loss in Norfolk and Norwich for over 200 years), Kay's parents have set up a JustGiving page.
Theresa and Vaughn have also participated in the Tour De Broads 100-mile cycle ride and the Norwich Cycle Swarm 70-mile ride. The couple plans to take on the Dusk Til Dawn 12-hour mountain bike night race in October.
