Retinitis Pigmentosa (RP) - Coggle Diagram
Retinitis Pigmentosa (RP)
What is RP?
It is the name given to a group of inherited eye diseases that affect the retina
RP causes the breakdown of photoreceptor cells. Because of this breakdown and dying of cells, people with RP experience progressive vision loss.
Rod- Cone Dystrophy
RP first causes the breakdown of rod cells. The more rod cells that breakdown, the more people with Rod-Cone Dystrophy lose their peripheral vision. This creates tunnel vision. The loss of rod cells also causes night blindness.
This affects central vision. People with cone-rod dystrophy lose their central vision and it cannot be corrected with glasses or contact lenses. The loss of cone cells can also cause disturbances in color perception
The degree of visual loss varies from person to person.
It is an inherited disorder, so it is not caused by an injury, infection or any other external environmental factors.This disorder is already programed into the cells.
First signs in show up in children as early as 10 years old.
There are several different types of gene mutations that can send faulty messages to the retinal cells.
RP is linked to a recessive gene, so it must be inherited from both parents.
There is no known cure
Few treatment options such as light avoidance and/or use of low-vision aids to slow down the progression.
Research is being conducted in gene therapy research, transplant research, and retinal prothesis.
The family passes down the mutation in genes and they fall into three main categories.
Autosomal Recessive RP occurs when bother parents are unaffected carriers of the same defective gene. The child must inherit the defective gene from each parent.
Autosomal Dominant RP the disease is present in males or females only when a single copy of the gene is defective. Typically one of the parents is affected by the disease.
X-Linked Recessive RP occurs in two ways. The fathers can be affected or mothers can be carriers. If the father is affected then all sons will be unaffected and the daughters will be carriers. If the mother is the carrier 1 in 2 sons will be affected and 1 in 2 daughters will be carriers.