A B S T R AC T Background Scientific advances in the understanding of the molecular biology of inherited eye conditions now allow more effective diagnosis and management for patients and families. For translation into clinical practice, it is vital that specialist services are developed with the necessary multi-disciplinary expertise, investigatory resources and organizational arrangements. We investigate the equity of specialist provision in the UK and make recommendations for service

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... nt. Methods A questionnaire survey was carried out of all providers of specialist genetic services in the UK. Results were analysed by provider, catchment population and Strategic Health Authority population. Results Nineteen specialist services were identified. Provision of annual out-patient clinics and medical consultant sessions varied widely with many small services lacking full multi-disciplinary teams. There was an 8-fold regional variation in patient activity. Across the UK, we estimated an annual shortfall of 1000 new patient referrals. Conclusions There should be a national programme of strategic planning of specialist genetic ophthalmology services. Necessary elements will include service specifications and standards, overall number and configuration of services, models which maximize the efficiency of use of specialist genetics elements and education of specialist and general ophthalmologists in genetics elements of their speciality.