Retinitis pigmentosa type 25 (RP25) is one form of a group of inherited eye disorders known as retinitis pigmentosa.
These disorders lead to a gradual loss of vision due to issues with the cells that sense light in the eyes. The first sign of RP25 is often difficulty seeing in low light, known as night blindness. Over time, it can progress to losing side vision, causing a “tunnel vision” effect, and eventually, central vision may also be lost. While complete blindness is rare, it can happen. RP25 is a condition that only affects the eyes, and there are no other symptoms in the rest of the body. Currently, there is no cure for retinitis pigmentosa. However, wearing sunglasses that block UV-A and UV-B rays is recommended, and certain optical aids can make eyes more comfortable. Some individuals may benefit from vitamin A palmitate therapy, which could slow down the degeneration of the retina. Counseling and lifestyle adjustments can also help individuals manage the progressive loss of vision.
RP25 is caused by pathogenic (disease-causing) variants in the EYS gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 42 chance to be a carrier.
Other names for this condition are pigmentary retinopathy, rod-cone dystrophy, and tapetoretinal degeneration.