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Stickler syndrome diagnostic service

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 care appropriate to the individual patient’s needs.

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

Approx 60 specialised services are commissioned nationally by the National Specialised Commissioning team.

The stickler syndrome diagnostic service is one of those specialised services and the stickler team are based at Cambridge University Hospitals.

The stickler syndrome diagnostic service receives referrals from healthcare professionals for diagnosis 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’s Stickler syndrome diagnostic clinics are held:

  • Every Thursday morning – New appointments are at 9am and 10am.
  • Tuesday afternoon (weeks 1 & 3) – New appointments are at 2pm
  • Thursday afternoon (weeks 2 & 4) – New appointments are at 2pm

During the initial appointment we strive to complete all the diagnostic testing and any other tests that may be required to ensure that Mr Snead and his team has all the relevant information, so we advise that a patient allow 2-3 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.

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.

Contact Details

Mr M Snead
mps@cam.ac.uk

 

Stickler specialist nurse
Sister Annie McNinch SRN 
am789@cam.ac.uk

 

Stickler service secretary
Wieslawa Johnson
Tel: 01223 348 842
wieslawa.johnson@addenbrookes.nhs.uk