Earlier diagnosis can better treat Stickler Syndrome, says Cambridge eye surgeon
The condition can lead to the likes of sight and hearing loss in later life
A Cambridge eye surgeon believes earlier diagnosis of a genetic condition can stop children losing their sight in future.
Stickler Syndrome affects the body's connective tissue that can cause the likes of vision and hearing loss, but it is often overlooked as most symptoms appear and are treated separately.
"Although a cure is available, prevention is still better than cure," Professor Martin Snead, consultant ophthalmic and vitreoretinal surgeon at Addenbrooke’s Hospital, said.
"It's key to make the diagnosis before patients get their detached retina and the high-risk group are the children who may not report visual loss."
What is the diagnosis rate?
According to Stickler Syndrome UK, the condition is relatively common but frequently unrecognised or undiagnosed.
The charity said around 50% of those with a diagnosis are being treated for a single symptom rather than all, which could mean their diagnosis is incomplete with other effects or risks possibly being neglected.
Some of the symptoms of Stickler Syndrome relate to eyes, hearing and muscular issues.
These include cataract, short sightedness and retinal detachment, as well as cleft palate in newborn babies and early onset arthritis.
Professor Snead said diagnosis can be difficult as different people may deal with symptoms in different ways.
He said by having preventative surgery, the chances of a person living with severe sight loss in future are reduced "by ten-fold.
"Repair of retinal detachment is nearly always possible in more than 90% of cases, but because the retina is made up of nerve tissue, the vision may still not be as good as if the detached retina had not occurred in the first place."
'Always more to do'
Professor Snead is also the service lead for the NHS England nationally commissioned Highly Specialised Service, which oversees the diagnosis and management of patients and families affected by Stickler Syndrome.
There are around 60 specialised services - including Cambridge University Hospitals - commissioned nationally to manage the condition.
Professor Snead said he's seen patients who've suffered visual loss before they've received a diagnosis.
"We have made a lot of great strides in terms of educating the public and healthcare professionals about the condition, but there is always more to do," he added.
"We are better at repairing retinal detachment now than we were 50 years ago, and we've learnt a lot in the last 30 years and hope to learn a lot more in the next 30 years."