Families

What is RP2-associated retinitis pigmentosa?
RP2-associated retinitis pigmentosa is a serious eye disorder caused by changes (mutations) in a gene called RP2. The disease causes the cells in the retina (the part of the eye that senses light) to break down and stop working properly, leading progressive visual impairment. It usually starts in childhood. People with this condition often experience early problems with their central vision (macula) and become nearsighted (myopic). Vision tends to decline quickly.

How common is this condition?
Retinitis pigmentosa (RP) is the most common inherited disease of the retina. Specific forms of RP that are passed down through families in an X-linked way (XLRP) account for 5-15% of all cases of RP. RP due to variants in the RP2gene affects about 1 in 150,000 to 1 in 400,000 individuals.

How is the disease inherited?
The RP2gene is located on the X chromosome. Therefore, RP2-associated retinitis pigmentosa follows an X-linked inheritance pattern and affects boys and men more often than girls and women.