Overview of Retinitis Pigmentosa Retinitis pigmentosa is a term that refers to group of hereditary disorders that affect the retina's ability to respond to light. The condition primarily affects rod cellsthe photoreceptor cells that are responsible for night vision, seeing in dim light, and peripheral vision. Cone cells, which are responsible for color vision and seeing in bright light, may also be affected as the disease progresses. Retinitis pigmentosa may be caused by mutations in any one of at least ten different genes, resulting in a malfunction in the retinal pigment epithelial (RPE) cells and a breakdown of a portion of the outer segment disc membrane of photoreceptor cells. When cells are destroyed at an abnormal rate, the build-up of waste products interferes with normal retinal function. The result is the occlusion (blockage) of small blood vessels, an abnormal increase in the number of RPE cells (hyperplasia), and the loss of photoreceptor cells. Retinitis pigmentosa is relatively rare. It affects 50,000 to 100,000 people in the United States. Worldwide, approximately 1.5 million people are afflicted. Retinitis pigmentosa is caused by a genetic defect. Patterns may be of three types: Ocular signs start with the breakdown of rod cells. Rods are … Continue reading
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