How do faults in the RPGR gene cause X-linked retinitis pigmentosa?

Research details

  • Type of funding: New Lecturers' Small Grant Award
  • Grant Holder: Dr Roly Megaw
  • Institute: University of Edinburgh
  • Region: Scotland
  • Start date: January 2017
  • End Date: April 2018
  • Priority: Causes
  • Eye Category: Inherited retinal


Retinitis pigmentosa (RP) is a condition that causes blindness due to the death of light-detecting cells in the retina at the back of the eye. It affects 1 in 3500 people in the UK and is currently untreatable.

About 8-12 people in every hundred with RP have a glitch in a gene known as RPGR. It causes a severe form of RP and inherited via the X-chromosome.

We know that it’s important for transporting the component parts of photoreceptors around inside the cell, so that they are in the right place to do their jobs. But we don’t yet know exactly how it’s involved.

The research team has used gene editing to develop a mouse version of RP that should closely mimic this type of human RP. In this project the researchers will study in detail how and when the glitch in RPGR affects photoreceptors. The aim is to get a better understanding of the condition and provide the data that might ultimately lead to developing a gene editing treatment for this type of X-linked RP.