A gene for a disease that blinds men who have a defective form of the gene by age 30 has been discovered. This condition is a severe form of retinitis pigmentosa. This gene accounts for about 10 to 20 percent of all known cases. RP3 has been diagnosed name or term used to label the condition.
RP3 is on the X chromosome. This causes its strongest effect to reside in men.
There are also known mutations in this RP3. This mutation causes 70 percent of the severe cases. With a defeat in one of there genes, younger meant have difficulty with their vision late at night. This may also cause them to have tunnel vision. Unfortunately right now there is no known cure for this condition causing the meant to become blind before middle age.
"Scientists have known the gene's approximate location since the early 1980's, but it's been very elusive, Dr. Sieving said."
"Scientists have known the gene's approximate location since the early 1980's, but it's been very elusive, Dr. Sieving said."
This is really interesting. Scientists having been working with this for over a decade and have now finally just determined it's function. With this mutation leading to such a terrible disease, it is relieving to see scientists finally having a breakthrough in this study. Although it may take time for a cure or treatment, at least they are on the right track!
ReplyDeleteI remember having this conversation with my grandfather about men losing their vision by 30 because of a genetic defect. I could only imagine how a parent must feel knowing their child is going to lose their eyesight. But I don't agree with this article. My boyfriend was told that he was going to lose his eyesight b/c he had a rare disease and there was nothing the doctor's could do about it. He's 21 now and can see perfectly without any contacts or glasses. Sometimes we cant put all our faith onto man... man is only limit to do so much.
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