PhenomeGene — Human Disease Gene Website SeriesRP2

Clinical Characteristics

What are the symptoms?
The symptoms, severity and progression of RP2-associated RP can vary, even within the same family. Common symptoms include:
•    Early trouble seeing in the dark or dim light
•    Rapid loss of sharp vision
•    Early problems with central vision
•    Loss of side (peripheral) vision
•    Difficulty telling colors apart
•    Short-sightedness
•    Severe problems with both rod and cone vision (types of light-detecting cells in the retina)
•    Deposits (“drusen”) in the optic disc
•    Changes in the retina that a doctor can see during an eye exam (like pigment changes and thinning blood vessels)
•    Clouding of the lens of the eye (cataract)

As RP2-associated retinitis pigmentosa is inherited in an X-linked pattern, it mainly affects boys and men. Women carrying the RP2variants may have no symptoms, mild symptoms, or sometimes more noticeable symptoms.