Retinitis pigmentosa

Overview

What is retinitis pigmentosa?

Retinitis pigmentosa is a term that describes a group of genetic conditions that cause loss of vision. Retinitis pigmentosa primarily affects the back wall of the eye which is known as the retina. The retina allows the eye to respond to light. Within the retina are specific types of cells known as "photoreceptors" or "rods and cones", as well as a layer of cells known as the "retinal pigment epithelium." The genetic changes that cause retinitis pigmentosa affect either the photoreceptors or the retinal pigment epithelium, leading to death of cells within the retina, causing progressive vision loss and often ending in blindness.

There are several different types of retinitis pigmentosa, each of which is associated with a different gene change and the forms of retinitis pigmentosa can be inherited in several different manners. Retinitis pigmentosa can be considered either "nonsyndromic", meaning that only the vision system is affected; "syndromic", meaning other neurologic functions, such as hearing, are also affected; or "systemic", meaning that multiple body systems are affected. Generally, however, the term "retinitis pigmentosa" is used to describe nonsyndromic forms of the condition, whereas the syndromic and systemic forms are typically referred to by their specific diagnosis name.

Unfortunately, there is no cure for retinitis pigmentosa; however, there are treatments which may slow the progression of the disease. Researchers are working to identify new treatments and potentially even a cure through something known as gene therapy. While this cure may be some way off, there is a great deal of support available to affected individuals. More information on living with retinitis pigmentosa can be found here. A review of retinitis pigmentosa written for physicians and others interested in a medical/scientific discussion can be found here.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/retinitis-pigmentosa/overview/59223 • DATE UPDATED: 2016-10-16

References

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