Over the past 25 years, the team has led international research into Stickler Syndrome, an inherited condition that can cause sight loss when the lining at the back of your eye begins to pull away, known as retinal detachment, as well as hearing loss and joint problems. The disorder of the eye is the most common cause of retinal detachment in children.
First described by paediatrician Dr Gunnar B. Stickler in the US in 1965, Stickler Syndrome was originally thought to be a single gene disorder but there are now six different genes known. Due to its complexity it is often misdiagnosed.
To combat this, the team at CUH has identified improvements over the years in diagnosing the clinical signs of Stickler Syndrome, the genetic factors involved, and developed pioneering surgery that substantially reduces the risk of childhood blindness for affected patients.
Other specialities that manage the complications of Stickler Syndrome which are not related to the eyes are involved as a multi-disciplinary team (MDT), including, audiology, orthopaedics, rheumatology and radiology, resulting in a one-stop holistic care for patients.
In 2011, the Department of Health commissioned the team to provide a National Stickler Syndrome service for all patients in England due to their success.
“This team is very specialist and world class,” the judges commented at the Bayer-sponsored Ophthalmology awards, held at the Royal College of Surgeons, London, in December. “It is an excellent example of multidisciplinary working that can be applied to other areas. The National Stickler Syndrome Diagnostic Service demonstrates successful patient pathways linked to research and very strong patient support.”
Mr Martin Snead, the consultant vitreoretinal surgeon at CUH who leads the service, said: “We are delighted and very honoured to win this award in recognition of what can be achieved through the NHS by close team collaboration between clinicians, scientists, and patient support groups.”
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