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How to see a genetic eye specialist?


Specialist centres for genetic eye disease

There are various centres throughout the UK with specialised genetic eye services. Given the rarity of these conditions, some ophthalmologists may not be familiar in their management. It is advisable that patients are seen in these specialist centres as they can receive a more comprehensive management of their condition, including genetic testing and genetic counselling, development assessment for children, and evaluate eligibility to participate in any ongoing research or trials.  

The Moorfields Eye Hospital NHS Foundation Trust in London has the largest genetic eye service in the UK and provide access to all of the above. They are happy to see patients with any form of genetic eye disease, as they have dedicated clinics for all these conditions.

Information on the location of other specialist centres can be obtained from the following charities: 

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How to get a referral?

1) Public (NHS) route

If you or your family member is currently not being seen in a specialised genetic eye service and would like to be referred to one, you can get a referral from your own family doctor (GP). You need to express the following to your GP: 

“I have a genetic eye condition and I would like to be seen by an expert consultant ophthalmologist specialising in genetic eye disease for further assessment including genetic testing, genetic counselling and family planning advice.”

The GP needs to ensure that the referral is made electronically to the specialist centre, and that they ideally name the consultant on the referral letter e.g. Professor Mariya Moosajee, Genetic Eye Disease Clinic, Moorfields Eye Hospital.

2) Private route

If you wish to be seen as a private patient, you can book an appointment with one of the genetic eye specialists through the following: 

Some specialist centres are offering virtual consultations and arrange genetic testing remotely by sending blood or saliva kits to the patients’ home. This can also be arranged privately for international patients.

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