![]() It replaces the miscoded RPE65 protein that is produced within the retinal pigmented epithelium. Ĭurrently there is only one FDA-approved gene therapy that is commercially available to RP patients with Leber congenital amaurosis type 2. A visual prosthesis may be an option in certain people with severe disease. Vitamin A palmitate supplements may be useful to slow worsening. Efforts to manage the problem may include the use of low vision aids, portable lighting, or orientation and mobility training. There is currently no cure for retinitis pigmentosa. Other supportive testing may include the electroretinogram (ERG), visual field testing (VFT), ocular coherence tomography (OCT) and DNA testing to determine the gene responsible for a person's particular type of RP (now called Inherited Retinal Dystrophy (IRD)). Diagnosis is by eye examination of the retina finding dark pigment deposits caused by the rupture of the underlying retinal pigmented epithelial cells, given that these cells contain a pigment known as melanin. This is generally followed by the loss of cone photoreceptor cells. However, when the rod cells die, this substance is no longer provided. The rod cells secrete a neuroprotective substance (Rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis (cell death). The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. It is caused by genetic miscoding of proteins in one of more than 300 genes involved. Retinitis pigmentosa is generally inherited from one or both parents or rarely it can be caused by a miscoding during DNA division. Onset of symptoms is generally gradual and often begins in childhood. As peripheral vision worsens, people may experience " tunnel vision". Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). Retinitis pigmentosa ( RP) is a genetic disorder of the eyes that causes loss of vision. Low vision aids, portable lighting, orientation and mobility training ![]() Trouble seeing at night, decreased peripheral vision ![]() While the macula is preserved there is some loss of pigmentation around it. Note pigment deposits in the mid periphery along with retinal atrophy. Back of the eye of a person with mid-stage retinitis pigmentosa. ![]()
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