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Genetic Eye Disease

Services for genetic eye disease

Eye disorders that lead to blindness or near-blindness cause serious disability. A small but significant proportion of such cases in the UK are due to inherited (genetic) forms of eye disease.  Genetic factors are also thought to be involved in the more common forms of eye disease, such as age-related macular degeneration; these disorders are not inherited, but it may be possible to inherit an increased chance of eventually developing them.

Progress in scientific understanding of these conditions is leading to new opportunities for diagnosis and treatment of specific conditions, especially for the rarer, genetic forms of eye disease. UK-based health policy research organisation the PHG Foundation recently got together a group of experts (including doctors, ophthalmologists, geneticists, and representatives of patient groups and charities to consider the effect of these changes on the NHS.

The study looked at current specialist services for genetic eye disorders in the NHS, and in particular, assessed how current ophthalmology services may need to change in response to new understanding about genetic factors in rare and common forms of eye disease, and to emerging technologies for diagnosis and treatment.

A report from the working group is now available; Genetic Ophthalmology in Focus by PHG Programme Director Dr Hilary Burton and Professor Tony Moore of the Institute of Ophthalmology summarises the findings of the expert group, and provides recommendations for making sure that people with genetic eye disease (including inherited disorders that may affect many different parts of the body as well as the eyes) can all access the best NHS specialist services, wherever they live in the UK.

The full report is available for download free of charge from the PHG website at:

A shorter summary of the report is also available at:

Read about the PHG Foundation on our vision and sight charities & support groups pages.

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