Retinitis pigmentosa
Retinitis pigmentosa (RP) is an inherited eye condition that affects the photoreceptor cells responsible for capturing images from the visual field.
The defining features of conditions covered by Retina UK are that:
- the cause of sight loss is retinal degeneration (cells in any part of the retina, including the macula, deteriorate and die)
- they have a direct genetic cause (they are caused by mutations in a particular part of a person’s DNA).
The mutations cause failure of a particular structure or function within retinal cells, ultimately leading to degeneration of the cells and subsequent sight loss.
The mutations are almost always inherited from one or both parents, even in situations where both parents have healthy eyesight. In a tiny proportion of cases, the mutation appears for the first time in the affected person and is not carried by either parent.
Genetic retinal conditions usually cause vision problems that start in childhood or early to mid-adulthood.
Vision problems starting later in life (50s or 60s) onwards are less likely to have a direct genetic cause, although this is possible. Most
Retina UK conditions are progressive, becoming gradually worse over time, although a small number are “stationary”; they may be present at birth but do not progress.
