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About RP

Retinitis pigmentosa (RP) is the name given to a group of inherited conditions of the retina (see Structure of the Eye) that all lead to a gradual progressive reduction in vision. Difficulties with night vision and peripheral ('side') vision are the first things that are noticed. Later, reading vision (detailed vision), colour vision, and central ('straight-ahead') vision are affected. The age at which symptoms start is variable and the rate of deterioration often varies - for example with the different genetic types - but is generally very slow with changes occurring over years rather than months. In approximately half of all cases there are other family members with RP.

There are three main inheritance patterns, autosomal recessive, autosomal dominant and X-linked inheritance, depending on the genetic cause, with RP affecting approximately 1 in 3,000 to 4,000 people.

A clinical trial to treat retinitis pigmentosa caused by mutations in the RPGR gene has started at the University of Oxford. It is sponsored by Nightstarx Ltd., a University of Oxford spin out company set up to develop treatments for RP using gene therapy. The current trial uses gene therapy to restore the full length RPGR gene to photoreceptor cells. The preliminary work funded by the Medical Research Council showed that small modifications to the vector can make the gene stable so that the correct RPGR sequence is restored (Fischer et al., Molecular Therapy 2017). Until now, other gene therapy approaches have only been able to generate mutated versions of the gene, which may not be effective in patients. More volunteers are needed and anyone interested in joining the gene therapy trial should arrange for a routine GP referral to see Prof Robert MacLaren for review at the Oxford Eye Hospital. Please note that this trial is only for UK based male patients with X-linked RP caused by a confirmed mutation in the RPGR gene. Patients who are under review at other hospitals are also welcome, but should first discuss their eligibility with their regular consultant. A second gene RPGR gene therapy trial centre in Manchester will shortly be opened. Anyone who is unsure about eligibility or who wishes further information should contact Nightstar at: www.nightstarx.com/patients/research,

Whether you have just been diagnosed with retinitis pigmentosa (or one of the many related inherited retinal conditions) or have known about the condition for a while, this website will provide a lot of information.

Also, we recommend that you visit The RP Patient Pathway which provides lots of information about how to cope with living with RP and about the people and services you will come across.

We are grateful to Professor Michel Michaelides BSc MB BS MD FRCOphth FACS of Moorfields Eye Hospital and UCL Institute of Ophthalmology for authoring this section and the Research section of this website.


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