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Genetic eye disease

Genetic eye disease is a leading cause of blindness among infants, children and adults. It represents the commonest cause of severe visual loss in children and the working age population in the UK.

  • It can result from a change in the normal genetic code (DNA sequence). Most genetic disorders are caused by a combination of genetic and environmental factors, but a large proportion is also due to mutations in single genes or chromosomal abnormalities. The resultant disease can affect the eyes alone, but can also involve other parts of the body (forming a syndrome).

    Genetic eye disease includes congenital (present at birth) eye malformations (microphthalmia [small abnormal eyes], anophthalmia [no eyes] and ocular coloboma [cleft in the eyeball]), congenital cataracts, congenital glaucoma, inherited retinal degenerations, optic atrophy and certain types of strabismus with a family history.

    Common diseases such as refractive error e.g. myopia (short-sightedness), glaucoma and age-related macular degeneration also have a genetic component together with environmental influences.

  • It is important to consult a specialist in eye genetics to make an accurate timely diagnosis as they have expertise in identifying genetic eye conditions through the appropriate examination and investigations, in order to provide reliable advice, information on prognosis and offer appropriate genetic counselling. There are many novel therapies on the horizon for genetic eye disease and knowing one’s genetic mutation can help gain access to new research and treatments.

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If you would like to know more about our services or book an appointment please call our New Patient Team.

If you are already a patient at Moorfields Private and have an enquiry, please contact your consultant’s practice manager.

New Patient Team: Freephone 0800 328 3421
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New Patient Team: Freephone 0800 328 3421

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Genetic eye disease consultants

A picture of Professor Mariya Moosajee

Professor Mariya Moosajee


Consultant Ophthalmologist

A picture of Professor Michel Michaelides

Professor Michel Michaelides


Consultant Ophthalmic Surgeon

A picture of Mr Patrick Yu Wai Man

Mr Patrick Yu Wai Man


Consultant Ophthalmologist

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Paying for treatment

Private Medical Insurance

If you are covered by private medical insurance, please verify the details with your insurer prior to arrival and if possible, obtain a pre-authorisation number.

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Self pay

You don’t have to be insured to come to Moorfields Private. Many of our patients pay for their own treatment.

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Third party sponsorship

​If a company, employer or other third party agrees to settle your account, they will be required to provide a letter of guarantee along with a deposit.

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