Unlock Genetics

Discover Your Choices

This website explains how genetic testing may help you and your family discover more about your inherited sight loss condition and how to unlock choices.

Discover Genetics

Why genes matter

Genes provide instructions for making proteins, which are the building blocks of our bodies. Significant changes in genes sometimes make the instructions incorrect or unreadable, this can cause problems such as inherited sight loss.

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Discover Inheritance Patterns

Your family’s story

The way in which a faulty gene has been passed down through the generations of a family is referred to as the inheritance pattern. It dictates the chances of children inheriting the condition.

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Discover Genetic Testing

Searching for the cause

Genetic testing is used to try to find out which gene contains the fault that is causing sight loss. A genetic test result can often provide valuable information for you, your family and your doctor.

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Quotation Marks

Knowing our genetic diagnosis is a gift; we are now in the best position to make choices and take up any treatment opportunities that arise.

Cindy

Quotation Marks

Getting a genetic test result was so important; I now have the information I need to volunteer for appropriate trials and I can be confident about my children’s future.

Simon

Discover Genetic Counselling

Every family is different

Genetic counsellors are specially trained healthcare professionals who can discuss with you your family’s circumstances and choices about testing.

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Quotation Marks

The counselling was informative, thorough and sensitively carried out and covered both myself and my wider family.

Martin

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It felt like a big weight had been lifted and finally lots of questions which had been building up over the years were answered in terms I could understand.

Bhavini

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Discover getting a referral

Next steps

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Discover Genetics Clinics

Find a centre

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  • Adult genetics clinic: Refer to Dr Martin McKibbin
  • Paediatric clinic: Refer to Rachael Pilling and Mr John Bradbury at Bradford Royal Infirmary, BD9 6RJ

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  • Ophthalmic genetic clinic: refer to Miss Amanda Churchill, Bristol Eye Hospital, BS1 2LX

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Cambridge
  • Ophthalmic genetic clinic: Miss Louise Allen or Dr Geoff Woods, Addenbrooke’s Hospital, CB2 0QQ
  • Ophthalmic genetic counselling: Amy Taylor, Consultant Genetic Counsellor

Discover Answers

Frequently asked questions

Who do I ask if I want a genetic test?

Speak to your GP, or ophthalmologist if you have one; they will be able to make the appropriate referrals. See Discover Getting a Referral. Your current ophthalmologist may be able to arrange the test themselves.

How old do you have to be to get a genetic test?

Any child or adult who has signs or symptoms of an inherited sight loss condition can get a genetic test, no matter what their age. Predictive testing and carrier testing is usually only offered to adults unless the family condition is one that can start in childhood. See Discover Genetic Testing.