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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: