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A little girls Marfan syndrome was identified after she had her eyes tested for the first time in Ilkeston.

Kathleen OHara, known as Kitty, was only three years old when she first visited Specsavers with her mother, Amy, for a routine eye exam in November 2017.

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I noticed that Kitty had vision problems, she held the books very close to her face and looked up, so I took her to the optician, said Amy.

Very young children who can identify simple forms can have an eye exam at opticians. An eye test examines the overall health of the eye as well as vision. When examining Kittys eyes, Specsavers optometrist, Navin Nehra, found a problem with his crystal lenses, structures in the middle of the eye that focus light on the retina, these are the same structures that can be affected. by cataracts, usually when we get older. But with Kittty, it was not a cataract, the lenses themselves were not in the right position and a referral to the Queens Medical Center (QMC) in Nottingham was made, where Kitty was seen in the week.

About one in 5,000 children experience this type of lens shift, known as ectopia lentis, so its really very rare, says Navin. This is the first time I have seen the problem with a client in my ten year career.

At the hospital, the doctor talked about a few ways to explain Kittys symptoms, before diagnosing connective tissue disorder, Marfan syndrome. Although there is no cure, without treatment, victims risk sudden death and may go unnoticed because of its obscurity.

Since the diagnosis, Kitty has had countless doctors and hospital appointments to improve her chances of a healthy life as she ages. She has had two eye surgeries, uses a wheelchair because she gets tired easily and takes medicine for her heart.

Amy adds, If it wasnt for me to have her take the eye test, we might not have been wiser. The earlier it is detected, the better, so I am very grateful for the quick reference made by Navin.

Very few people know about Marfan syndrome, so we really want to raise awareness of the signs it could save lives.

As a rule, people with the disease are tall with long fingers. The eyes are often the first indication, as lenses tend to slip, although not everyone with Marfan syndrome has eye problems.

The syndrome is a genetic disorder and about three-quarters of people inherit the gene from their parents, while one-quarter have no family history of the disease. Its signs are not always present in early childhood. Some people do not develop functionality, including heart problems like an aortic enlargement, until they are adults.

Without early diagnosis and treatment, people may be at risk for life-threatening complications. The earlier certain treatments are started, the better the results.

Krishna Parmar, manager of Specsavers Ilkeston, said: Kitty is a wonderfully resilient little girl and we are delighted that she is getting the treatment she needs. She always brightens our day when she comes to the store.

If you notice any changes in your childs eyes or eyesight, it is important to check them as soon as possible.

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Link:
Kitty's eye condition discovered during a routine trip to the optician - themediatimes

This entry was posted on January 15, 2020 at 1:43 am and is filed under Eye Sight & Vision. You can follow any responses to this entry through the RSS 2.0 feed. Both comments and pings are currently closed. |