A little girl’s Marfan syndrome was identified after she had her eyes tested for the first time in Ilkeston. Kathleen O’Hara, known as Kitty, was just three when she first visited Specsavers with her mum, Amy, for a routine eye test.
‘I’d noticed Kitty was having problems with her sight, she’d hold books up very close to her face and look up at an angle, so I took her to the optician,’ Amy says.
Very young children who can identify simple shapes are able to have an eye test at the opticians. An eye test looks at the overall health of the eye as well as vision. When examining Kitty’s eyes, Specsavers optometrist, Navin Nehra, found an issue with her crystalline lenses, structures in the middle of the eye that focus light onto the retina, they are the same structures that can be affected by cataract, usually as we get older. But with Kitty it wasn’t a cataract, the lenses themselves were not in the right position and a referral to Nottingham’s Queen’s Medical Centre (QMC) was made, where Kitty was seen within a week.
‘Around one in 5,000 children experience this kind of lens slippage¹, known as ectopia lentis, so it’s really very rare,’ Navin says. ‘It’s the first time I’ve seen the problem in a customer in my ten-year career.’
At the hospital, the doctor talked through a couple of possibilities to explain Kitty’s symptoms, before diagnosing the connective tissue disorder, Marfan syndrome. Although there isn’t a cure, without treatment, sufferers risk sudden death and it can go unnoticed because of its obscurity.
Since diagnosis, Kitty has had countless doctors and hospital appointments to improve her chances of a healthy life as she grows older. She has undergone two operations on her eyes, uses a wheelchair as she gets tired easily, and takes medicine for her heart.
Amy adds: ‘If it wasn’t for me taking her for the eye test, we may have been none the wiser. The earlier it’s detected the better, so I’m very thankful for the quick referral Navin made.
‘Very few people know about Marfan syndrome, so we really want to raise awareness of the signs – it could be lifesaving.’
Typically, people with the condition are tall with long fingers. Eyes are often the first indication, as the lenses tend to slip, though not everyone who has Marfan syndrome has eye problems.
The syndrome is a genetic disorder and around three-quarters of people inherit the gene for it from their parents2, while one quarter have no family history of the condition. Its signs are not always present in young childhood. Some people don’t develop features, including heart problems like aortic enlargement until they’re adults.
Without early diagnosis and treatment, people can be at risk of potentially life-threatening complications. The earlier treatment is started, the better the outcomes are likely to be.
Specsavers Ilkeston store director, Krishna Parmar, says: ‘Kitty is a wonderfully resilient little girl and we’re glad she’s getting the treatment she needs. She always brightens our day when she comes to the store.
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