Improving healthcare services for people with inherited retinal dystrophies: an evidence-based approach.

Research details

  • Type of funding: Programme Grant
  • Grant Holder: Professor Graeme Black
  • Institute: University of Manchester
  • Region: North West
  • Start date: January 2010
  • End Date: March 2016
  • Priority:
  • Eye Category:


Genetic disorders are the most common reason for visual disability in childhood. Finding genes that cause these conditions has been highly successful, with major scientific benefits. This has created a need for genetic testing to support affected patients and families.

Prof Black and team have developed a national service for genetic testing for inherited retinal dystrophies that has been running since 2005. The service is free to patients, but when the team evaluated how it was working they found that access to the service was not equal.

An expert working-group confirmed the findings on inequality in 2008 and recommended that research should be done to work out the most effective way to provide care for families with genetic eye disorders. So the aims of this programme of research are to:

Develop a model for providing clinical services to families with inherited retinal dystrophy. The model is to be patient-led and based on evidence from interviews with patients and health professionals. The model can then be tested to find out how well it works in practice.

Study the potential of new DNA sequencing technology to change the way we find genetic faults. The team is looking at how well the new technology can identify people with faults in genes that we already know cause eye conditions and also how well it can discover new genes and genetic faults.