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NHS England commissioned the national Highly Specialised Service for Stickler Syndrome in 2011 and, therefore, patients in England* can be referred free of charge by their GP. Diagnosis is made through clinical examination and family history, in combination with genetic testing to confirm diagnosis and to determine the precise gene mutation.

Stickler Syndrome UK is keen to help progress referrals wherever you are across the UK and the Republic of Ireland. Not everyone can travel to Addenbrooke’s, so depending on an individual patient’s needs, the Specialist Team based in Cambridge will generally alternate shared care with your local hospital team and/or be available to provide online advice if needed.

What to expect on referral

Medical professionals

If you suspect a patient has ‘key indicators’ for Stickler Syndrome we urge you to consider a referral to the NHS England Highly Specialised Service for Stickler Syndrome for baseline assessment and advice, according to sub-group and genetics diagnosis.


Your time is valuable, as is that of healthcare professionals. Please liaise carefully with your GP, Optician, or local hospital/healthcare providers before seeking a referral for diagnosis.

You can ask your GP or Ophthalmologist to refer you to the Specialist Team in Cambridge by sending a letter via post, or email to

You are welcome to print off our generic referral letter and hand it to them to assist in their referral.

UK referrals

Referral letter download icon
More in-depth detail can be sourced from:
*For patients from Scotland, Wales and Northern Ireland funding approval is required. Please see the link below for more information:

*For patients from the Republic of Ireland funding must be approved by the Treatment Abroad Scheme. Please see the link below for more information: