Retinitis Pigmentosa is a genetically inherited disorder which means that I’m not only affected but carry the genetic disorder in my genome. To better understand this lovely disease, I have complied the below information for those of you who would like to understand it better.
The Short and Skinny
Retinitis Pigmentosa (RP) sucks.
The genetic mutation that causes RP has been traced back to over 150 different possible genes. The short and skinny of RP is that it causes the cells around the back of your eye to fail and die. As the cells perish, the field of view that one sees begins to shrink. “Tunnel Vision” is a great word that i’ve read that really does create an image of what it does.
On top of the “Tunnel Vision,” RP also attacks the Rods and Cones that make up the Retina. The results of this is sensitivity to light, night blindness and extreme difficulty adjusting from light to dark and vice versa.
What does it mean?
While every situation of RP is unique, I can only speak for myself. I suffer from complete night blindness, meaning that if there isn’t lights on, I can’t see. If i’m in an unknown area and it’s dark, I can’t see. My situation is riddled with poor vision from the get go. Currently, I wear a -17.00 prescription contact lens which allows for me to see to my best ability.
With the poor myopia condition that I have, in conjunction with the RP, my vision is just terrible. You can see some Visual Examples that i’ve created to help show how little of my vision remains.
The LONG and Informational
Retinitis Pigmentosa defined by Blindness.org
“Retinitis pigmentosa, also known as RP, refers to a group of inherited diseases causing retinal degeneration. The retina is a thin piece of tissue lining the back of the eye. It converts light into electrical signals that the brain interprets as vision. People with RP experience a gradual decline in their vision, because photoreceptor cells in the retina degenerate.
Forms of RP and related diseases include Usher syndrome, Leber congenital amaurosis, and Bardet-Biedl syndrome, among others.”
People Affected
Under 100,000 in the United States
1 in 4,000 people may have or carry the gene for Retinitis Pigmentosa.
Symptoms Often Associated
Symptoms depend on whether rods or cones are initially involved. In most forms of RP, rods are affected first. Because rods are concentrated in the outer portions of the retina and are triggered by dim light, their degeneration affects peripheral and night vision. When the disease progresses and cones become affected, visual acuity, color perception, and central vision are diminished.
Night blindness is one of the earliest and most frequent symptoms of RP. People with mainly cone degeneration, however, first experience decreased central vision and reduced ability to discriminate colors and perceive details.
The “light show” is another fun side effect of Retinitis Pigmentosa. As the cells fail in the back portion of the retina, a series of white flashes and “floaters” take over your vision. Most of the time, you can still function through the show. In recent months, I’ve had two “light shows” that were so bright and full that I was unable to see anything past the bright white lights.
Retinitis Pigmentosa is typically diagnosed in adolescents and young adults. It is a progressive disorder. The rate of progression and degree of visual loss varies from person to person. Most people with RP are legally blind by age 40, with a central visual field of less than 20 degrees in diameter. It is a genetic disorder and, therefore, is almost always inherited.
Treatments and Cure
There is no current treatments or cures to stop, correct or slow down Retinitis Pigmentosa.
There are several Stem Cell studies being conducted that have recently been approved by the DFA. In addition, Spark Therapies has issued several results of promise in a Gene Therapy where they manipulate the affected Gene to correct the disorder.
We will see. (No pun intended)