Rare disease detected by eye test
A routine eye test at Specsavers Gloucester led to the diagnosis of a rare disease for 11-year-old James Probert.
During his eye test optometrist Steven Crawford noticed some unusual scarring on the back of his left eye. His mum Emma said she thought the scarring was probably a result of meningitis James had suffered as a baby. However, Steven thought it needed further investigation and immediately referred him to Gloucester Royal Hospital.
After undergoing a range of tests, the specialist diagnosed James with Coats’ disease, a rare condition where blood vessels develop abnormally behind the retina. The disease causes the vessels to leak fluid and blood under the retina, leading to a complete loss of vision if not treated.
‘We were shocked when we found out,’ said Emma. ‘We knew he was short sighted, but he had no other symptoms showing that his blood vessels were leaking.'
Incureable eye condition
Unfortunately, there is no cure for Coats’ disease, and over time sufferers will slowly lose sight completely, but the progression can be slowed down using laser eye surgery. However, James’ blood vessels are too hard to reach and he has not benefited from this treatment.
‘It’s very frustrating as there is no proven cure and so little is known about the disease. We do have another consultation for a more advanced operation to see if they would be able to seal the vessels, and we are hopeful this will work,’ said Emma.
Steven explained, ‘If Coats’ disease goes undiagnosed and untreated it will lead to loss of vision within a short period of time. Regular sight tests are not only vital for children’s vision, but their overall development. Early detection is key because by identifying the problem early on gives us a far better chance of slowing the deterioration down and hopefully the more advanced operation can provide relief.’
Emma added: ‘If we hadn’t gone to Specsavers, we wouldn’t even know that James had Coats’ disease. We are really grateful to Steven and his team and want to encourage other parents to book their child in for an eye test – don’t wait until it’s too late.’