Biology genetics | Page 10

Disease Part 2

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Diagnosis

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Causes

Retinitis pigmentosa is a recessive gene that is inherited from a parent or a grandparent or another family member, otherwise there is no other way to get this disease unless you have it from birth. You get retinitis pigmentosa if one of fifty genes is mutated. These genes carry information on making proteins in cells in the retina.

There is no treatment to this disease, but patients can take Vitamin A to delay the blindness by up to ten years. Also, the Argus retinal prosthesis has been accepted in four countries. Italy, France, Germany and the UK. This treatment is where a small image recording chip is inserted behind the optic fovea. Also, clinical trials are showing that gene transplants may also be possible. They would make an identical copy of the gene and then take out the bad one and replace it with the new un-mutated gene.

Treatment

Retinitis pigmentosa is diagnosed from an examination through the retina. An eye care professional will take a tool that lets them see a clearer, wider view of the retina and look for small black pigments on the retina. This is the reason that the disease has the name it does. They can do many other tests as well, one of them being a test where they test the electrical activity of the photoreceptor cells. They simply use gold foil or contacts with electrodes connected to them. They get a flash of light in there eye, and if a patient has decreased electrical activity, they could have retinitis pigmentosa. Another way is testing the peripheral vision of the patient. A small light is shown in a 180 degree area in front of the patient and when they can see it they click a button, giving the tester a map of where the patient can and can not see. Also, sometimes they will get a genetic test to see if the genes of the disease is in their DNA.