Stickler syndrome is the most common cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. In contrast to many other retinal blinding disorders, blindness through retinal detachments in most cases is potentially avoidable but the risk of retinal detachment varies considerably depending on the sub-type of Stickler syndrome. Accurate diagnosis will therefore assist clinicians treating these patients to provide appropriate care to the individual patient’s needs.
NHS England Stickler Syndrome - Highly Specialised Service
Link: https://vimeo.com/720737014/6d0c50c509
Service objectives
- To provide accurate clinical and molecular genetic diagnosis and sub-classification of Stickler Syndrome for patients and families in England.
- To develop a central patient registry and repository of data for longitudinal outcomes of all patients with Stickler syndrome in England to facilitate advancements in risk assessment, Prophylaxis and treatment of the long-term complications of this disorder.
The stickler diagnostic clinics
Approximately 60 specialised services are commissioned nationally by the National Specialised Commissioning team.
We are one of those specialised services and the Stickler team are based at Cambridge University Hospitals.
The Stickler syndrome Highly Specialised Service receives referrals from healthcare professionals for diagnosis and treatment of Stickler syndrome.
The Stickler clinics are held in clinic 14, which is next to the Cambridge eye unit on level 1 and the entrance to the clinic is situated apposite the main bus terminals at the front of the hospital.
Mr Snead and Mr Alexander’s Stickler clinics are held:
- Every Thursday morning
- Tuesday afternoon (weeks 1 and 3)
- Thursday afternoon (weeks 2 and 4)
During the initial appointment we strive to complete all the diagnostic testing and any other tests that may be required to ensure that our team have all the relevant information, so we advise that a patient allow two to three hours for this initial appointment.
You may also be asked to have a hearing test and blood tests, which are carried out in other clinics in the hospital. Our Specialist Nurse will also need to get some family history from you, so that we can complete a family tree. You will then have a consultation with Mr Snead or Mr Alexander.
The service covers patients registered with an English General Practitioner, Resident in Scotland, Resident in the European Union and eligible for treatment in the NHS under reciprocal arrangements. Patients from Wales and Northern Ireland are not part of this commissioned service and the trust must have prior approval for funding via their GP before being referred into the service.