Retinitis Pigmentosa (RP)

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 terms encompasses many named conditions. 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 any of approximately 200 genes, many of which remain to be identified. Though research is progressing it is currently incurable. Several forms of RP are understood to be ciliopathies.

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 incurable but clinical trials underway for gene therapy, use of stem cells, and other prospective treatments

Impact of RP

  • Progressive sight loss of variable degree, pattern and rate.
  • There is no therapy available for RP to date.
  • 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.

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