Retinitis pigmentosa (RP) is a group of rare genetic eye diseases that affect the retina, which is the light-sensitive layer of tissue in the back of the eye. RP causes cells in the retina to break down slowly over time, leading to vision loss. Symptoms usually start in childhood, and most people eventually lose most of their sight. Common symptoms of RP include difficulty seeing in poor lighting or in the dark, trouble adjusting to light changes or dim lighting, difficulty seeing in bad weather, tunnel vision caused by narrowed peripheral vision, trouble seeing colors, especially blue, vision loss, partial or complete, usually gradual, clumsiness due to poor vision, and blurry vision from cataracts that may complicate RP later in the disease.
There is no cure for RP, but vision aids and rehabilitation programs can help people with RP make the most of their vision. Some patients with RP develop swelling of the retina and may be helped by a certain type of eye drop or medication taken by mouth. Cataracts or clouding of the eyes lens may also develop, and surgery to treat this might be helpful for some patients. There is also an “artificial retina” called the ARGUS II implant, which may be helpful for some patients with severe vision loss due to RP. One form of RP caused by a defect in the RPE65 gene can now be treated with medication (voretigene neparvovec-rzyl) . Scientists are working hard to develop genetic therapies for other forms of RP, so it is very important to know what specific genetic defect causes your RP. Researchers are also testing possible new RP treatments, including clinical trials for a type of RP called X-linked retinitis pigmentosa.
To diagnose RP, an eye doctor may perform several tests, including a visual field test, electroretinogram (ERG), optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, and genetic testing. Protecting the retina by using UV sunglasses may help delay the start of symptoms. It is important to schedule and keep regular eye examinations, and if you think you may have RP, you should see an eye healthcare provider for a diagnosis.
