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Retinitis Pigmentosa refers to a group of disorders characterized by the degeneration of the retina that may eventually lead to blindness. The retina is located on the interior surface of the eyes and consists of several layers. Cones are specialized cells in the retina that are responsible for sharpness, and central and color vision. Cones are localized in the area called fovea. Surrounding the cones are other specialized cells called rods. Rods are responsible for peripheral and night vision. Retinitis Pigmentosa is a progressive disease, initially only affecting the rods in the retina. As the rods start to deteriorate, night vision becomes impaired. Peripheral and color vision also becomes compromised. Onset of the disease typically occurs during early adolescence. In some instances, severe deterioration of the rods and cones results in blindness.
There is no known effective cure or treatment for Retinitis Pigmentosa. Administration of Vitamins A and E have been found to slow progression but only in a small number of patients. Only quite high amounts of Vitamins A and E have been found more effective in these patients. Such amounts may be toxic, thus special care must be exercised during this treatment. Affected individuals must have limited exposure to bright sunlight and must wear sunglasses with infrared and ultraviolet protections.
There are many forms of Retinitis Pigmentosa, some have genetic causes and modes of inheritance in these forms varies. The X-linked forms are generally more severe than the other forms and are more pronounced in males than in females. Among the different forms of Retinitis Pigmentosa, these have been found to be X-linked:
Retinitis Pigmentosa 1 Retinitis Pigmentosa 13
Retinitis Pigmentosa 6 Retinitis Pigmentosa 15
Retinitis Pigmentosa 8 Retinitis Pigmentosa 24
Retinitis Pigmentosa 10
Couples with familial history of Retinitis Pigmentosa should consult with a genetic counselor regarding the various options available to them. A new test now available is called Preimplantation Genetic Diagnosis (PGD). Testing for genetic abnormalities as well as gender determination of embryos prior to implantation can be accomplished through PGD. Certain X-linked diseases are more prevalent in one gender over another. Knowing this and utilizing PGD can reduce the chances of having an affected child. PGD is available for a variety of other genetic disorders. It is continually being improved to include all other forms of Retinitis Pigmentosa and other hereditary diseases.
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