Agordia - One Health Place

The eyes may have it: Retinitis Pigmentosa

2 min read
The retina, it’s the light sensitive part of our eyes that contains the cells which detect light and color. 
Called rods and cones, these cells can breakdown.
It typically starts with losing night vision. 
And then progresses to losing peripheral vision… Moving towards a sort of tunnel vision.
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It can also start the opposite way, where affected people lose their central vision first. 
Retinitis pigmentosa is inherited and can be detectable by age 10.
While there is no known cure, the disease progression can be slowed through light avoidance or vitamin A supplementation.
However vitamin A supplementation can be toxic to other parts of the body.
There are over 100 genes that, if containing a mutation, can lead to 
the disease.
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It can be inherited from both parents or just one parent.
 If both parents have the gene but do not have the disease, then the chance of their children having retinitis pigmentosa is one in four. 
And the chance that their child is a carrier of the gene but without the disease is one in two. 
If one of the parents has the disease, the chance of their children having retinitis pigmentosa can be as high as If one of the parents has the disease, the chance of their children having retinitis pigmentosa can be as high as one in two. 
Sex, male or female, is determined by sex specific genes known as X and Y.
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If the gene mutation is on the X Gene, then an affected father will give the retinitis pigmentosa gene, but not the disease, to 1 in 2 daughters. The sons will not be affected. 
If the mother has the gene, then one in two sons will be affected. The daughters will not have the disease, but one in two will have the gene mutation. 
This means that, if the mutation is on the X gene… then only the boys can be at risk for having the disease. The girls are only at risk of carrying the gene but will not get the disease.