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Retinitis Pigmentosa (RP)

In a nutshell

Retinitis pigmentosa (RP) is the name given to a large group of inherited diseases of the retina that all lead to a gradual, progressive loss of vision. Difficulties with night vision and peripheral vision are usually the first things noticed, typically followed by tunnel vision. The approximate incidence is 1 in 3,500, affecting all ages, races and both sexes, and RP is caused by flaws in at least 300 genes. One gene-specific therapy (Luxturna, for faults in the RPE65 gene) is available on the NHS, and clinical trials for other prospective treatments are underway.

Retinitis pigmentosa (RP) is the name given to a large group of inherited diseases of the retina that all lead to a gradual progressive loss of vision (Inherited Retinal Dystrophies). The term encompasses many named conditions including retinal ciliopathies such as classic retinitis pigmentosa, cone-dystrophy, cone-rod dystrophy and Leber congenital amaurosis. Difficulties with night vision and peripheral vision are usually the first things that are noticed. Later, detailed and colour vision are affected. The age at which symptoms start is variable and the rate of deterioration may vary but typically night blindness and loss of peripheral vision is followed by tunnel vision. Ultimately this window on the world may shrink and close up altogether.

RP is caused by flaws in at least 300 genes, some of which have not yet been fully characterised or even identified. Research is progressing, there is now one gene-specific therapy, called Luxturna, available on the NHS; this is for RP caused by faults in the RPE65 gene. However, this is not a ciliopathy gene, but instead is involved in the visual cycle.

Primary features

  • Variable patterns and rates of retinal degeneration (sight loss).
  • 1/3,500 approximate incidence.
  • Syndromic forms of RP involve other disabilities or difficulties.
  • Affects all ages, races and both sexes.
  • A major cause of sight loss in people of working age and children.
  • Currently only one treatment is available for a very specific gene fault (although this is not a ciliopathy gene however clinical trials are underway for gene therapy, use of stem cells, and other prospective treatments

Impact of RP

  • Progressive sight loss of variable degree, pattern and rate.
  • Practical assistance and lifestyle changes are necessary to cope with reduced vision or blindness.
  • Significant emotional impacts in RP families, especially where there are multiple generations of people affected.

Find out more

https://pmc.ncbi.nlm.nih.gov/search/?term=retinitis+pigmentosa

Useful links

RetinaUK

Last reviewed: August 2026