Genetic condition awaiting consideration - Autosomal Dominant Retinitis Pigmentosa
Retinitis Pigmentosa (RP) is a disorder of the ‘photoreceptor’ cells in the retina of the eye. These cells are responsible for converting light into the images we see. Cone cells allow us to see colour and are focused in the centre of the retina. Rod cells are found everywhere else on the retina and can function in lower levels of light than the cones. In RP, the complex process by which light signals are converted into electrical signals is interrupted.
There are a number of different genes that can cause RP; this application covers the Autosomal Dominant form of RP caused by mutations (alterations) in the RP1 gene. In this form of RP both men and women can develop visual problems ranging from problems with vision at night to severe blindness. The first symptoms are usually associated with difficulties seeing in dim light or at night and related to loss of rod cells. Vision loss is progressive but the rate of progression can vary from person to person.
Over time, people tend to experience problems with peripheral vision, while central vision is usually retained into older ages. Some people with AD RP will be registered blind while others retain some useful vision into old age.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 28 January 2013