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The Stickler Syndrome Diagnostic Service

Stickler syndrome is the most common cause of inherited retinal detachment and the most common cause of Rhematogeous retinal detachment in childhood. In contrast to many other retinal disorders, blindness through retinal detachments, in most cases, is potentially avoidable but the risk of  a retinal detachment varies considerably depending on the sub-type of stickler syndrome. Accurate diagnosis will therefore assist clinicians treating these patients to provide care and appropriate to the individual patient’s needs.

In April 2011 the Stickler Syndrome Support Group announced that the Department of Health (NHS England) has commissioned the Vitreoretinal Service at Cambridge University NHS Foundation Trust to provide a national diagnostic service for Stickler syndrome.

The objective is to:

  • To provide accurate clinical and molecular genetic diagnosis and sub-classification for Stickler Syndrome for patients and families in England.
  • To develop a central patient registry and repository of data for long term outcomes for all patients with Stickler syndrome in England to facilitate advancements in risk assessment, prophylaxis and treatment of the long-term complications of this disorder.
  • Patients suitable for referral will be individuals with congenital vitreous abnormality typically, but not exclusively, from the following 4 groups:
  1. Neonates with Pierre-Robin/cleft and myopia.
  2. Infants with spondyloepiphyseal dysplasia associated with myopia and deafness.
  3. Patients with a family history of retinal detachment and joint hypermobility, midline clefting, or deafness.
  4. Sporadic cases of retinal detachments associated with joint hypermobility, midline clefting, or deafness. Services for patients from Wales, Scotland and Northern Ireland may be requested, commissioned and provided separately or on an individually negotiated basis.Prior to commissioning, a ‘shoestring’ service was offered to patients on a voluntarily basis by research laboratory staff funded by research grants but this has been overburdened by the national demand and this newly commissioned service is expected to eradicate inequity by ensuring patients in England are able to access prompt and accurate diagnosis and MDT advice.The Stickler Diagnostic Clinics:
  5. Approximately 60 specialized services are commissioned national by the National Specialized Commissioning team. The Stickler syndrome diagnostic service is one of those specialized services and the Stickler team is based at Cambridge University Hospitals.  Referrals are received from healthcare professionals. The clinics are held:
  • Every Thursday morning – New appointments are from 9am to 10am.
  • Tuesday afternoon (weeks 1 and 3) – new appointment are from 2pm
  • Thursday afternoon (weeks 2 and 4) – new appointments are at 2pmEnquires and referrals should be made to: Mr. MP Snead, Stickler Syndrome Diagnostic Service, Vitreoretinal Service, Box 41, Cambridge University NHS Foundation Trust, Hills Road. Cambridge CB2 0QQMr M Snead Sister Annie McNinch SRN Wieslawa Johnson[email protected]The service covers patients registered with an English 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 GPs before being referred to the service.During the initial appointment the aim is to complete all the diagnostic testing and any other tests that may be required so that Mr Snead will have all the relevant information. Patients are advised to allow 2-3 hours for this initial appointment.   The patient may also be asked to have a hearing test and blood tests. Sister Annie McNinch, the Stickler specialized nurse will also need to get some family history from you so that a family tree can be completed. This is followed by a consultation with mr Snead. Also see: www.vitreoretinalservice.org
  • www.stickler.org.uk
  • www.specialisedservices.nhs.uk
  • Tel: 01223 348 842
  • Stickler service secretary
  • [email protected] Stickler specialist nurse:
  • [email protected]