Retinitis pigmentosa (RP) is a genetic eye condition that leads to vision loss. RP is caused by the loss of light receptor cells (photoreceptors) that are located in the back of the eye (retina). The photoreceptors, which send signals from the eye to the brain, are made up of rods and cones. The rods help with vision in lower light as well as side (peripheral) vision. The cones help with vision in bright light. In RP, the rods start to go away first, which causes a person to have poor night vision, which usually starts in childhood. As time goes on, a person starts to have poor peripheral vision, followed by vision only in the center (tunnel vision) and then total blindness. The progression of these symptoms usually takes several years.
RP is caused by a change (mutation) in one of many different genes and can be inherited in several different ways, including autosomal dominant, autosomal recessive, and X-linked recessive, depending on which gene has the mutation. RP can be the only health issue a person has (isolated RP) or it can be part of a genetic syndrome that causes many different health problems (syndromic RP). There are over 60 genes that are known to cause isolated RP. Common syndromic forms of RP include Usher syndrome and Bardet-Biedl syndrome.
RP can be diagnosed by vision tests and an eye exam that show poor vision, rod dysfunction, and loss of photoreceptor function. There is not a cure for RP, but there are some medications available that may help slow the progress of the disease. If your child has been diagnosed with RP, talk to their doctor about current treatment options. Meeting with a genetic counselor may be helpful to determine how RP is inherited in your family. Support groups may provide additional information and connect you with others affected by RP.