Eye-opening gene key to treating blindness

September 12, 2011

BACKGROUND: Retinitis pigmentosa (RP) is a rare, inherited disease in which the light-sensitive retina of the eye slowly and progressively degenerates. Eventually, blindness results. Rather than being considered a single disease, RP instead is viewed as a group of diseases affecting how light-sensitive cells in the back of the eye function. Not much is known about what causes RP, except that the disease is inherited.

The genes associated with the eye condition control traits that are passed along in a number of different ways. At times, the genetic trait is dominant and likely to be passed along to a child when a parent has RP. At other times, the trait for RP is recessive. When the trait is dominant, it is more likely to show up when people are in their 40s. When the trait is recessive, it tends to first appear when people are in their 20s. (SOURCE: allaboutvision.com)

SYMPTOMS: The first signs of retinitis pigmentosa usually occur in early childhood, when both eyes typically are affected. Night vision can be poor, and the field of vision may begin to narrow. When RP first starts to appear, the light-sensing cells that are responsible for vision in dim light (rods) gradually deteriorate, and seeing at night becomes more difficult. During later stages, only a small area of central vision remains, along with slight peripheral vision. It's very difficult to predict the extent of vision loss or how fast it will progress when you have retinitis pigmentosa. (SOURCE: OMontejo@med.miami.edu

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