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What is
Retinitis Pigmentosa? The term retinitis pigmentosa (RP) describes a group of heritable retinal diseases characterized by night vision difficulties, and peripheral visual field loss with pigment deposition in the retina. The condition usually affects both eyes equally and ranges in severity from no visual disturbance at all in some families to blindness at birth in others. Most cases of retinitis pigmentosa are inherited in an autosomal recessive pattern, meaning that an individual must inherit an abnormal gene from both parents to be affected; those with only one abnormal gene are "carriers" and typically have no symptoms. RP may also be inherited in an autosomal dominant or X-linked pattern. In most cases of retinitis pigmentosa, an abnormal gene leads to the production of an abnormal protein in the retina. This causes the retina to slowly degenerate at a rate proportional to the severity of the abnormality caused by the mutated protein. Rod cells (the cells responsible for seeing in dim light) are usually the first to be affected by the degeneration. Thus, affected individuals often suffer from "nyctalopia" (night blindness). Because the peripheral retina has a larger proportion of rod cells than the central retina, patients also notice difficulty with peripheral vision. The majority of patients with RP notice difficulty with night vision beginning relatively early in life followed by trouble with peripheral vision in later life. Unfortunately, this loss of peripheral vision can be severe and progressive leading to legal blindness in many affected individuals. The diagnosis of RP can usually be confirmed with a test called an electroretinogram (ERG). This test measures the electrical activity of the retina and is usually severely compromised even early in the course of retinitis pigmentosa. Some University centers now offer genetic testing for individuals with RP. In many instances, it is possible to identify the specific genetic mutation which caused the problem and even screen family members who are concerned that they may be affected. Except in rare circumstances, there is no effective treatment for retinitis pigmentosa. Dr. Goldman has extensive experience in the diagnosis and management of individuals with retinal dystrophies such as retinitis pigmentosa. If you or a someone you know has RP or other retinal problem, please call us to arrange a comprehensive evaluation at wither of our convenient locations. |
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