What is Retinitis Pigmentosa?
Retinitis Pigmentosa (RP) is an inherited retinal disease (IRD). It’s genetic, meaning its source is in one’s DNA, and it’s degenerative, meaning it worsens over time.
RP is caused by a gene mutation. As of December 2017, there are approximately 300 known gene mutations causing RP and DNA testing can identify up to 181 of them. Due to advances in research, these numbers are rapidly growing and testing is constantly improving. Why is this important? The short answer is that in order to treat an individual’s RP through gene therapy, doctors need to know each individual’s specific variation.
The mutation of these genes affects the retina, which is where the photoreceptors are located. The photoreceptors, called rods and cones, take in the light from what the eyes see and send signals to the brain, telling us how to interpret that data as images. Rods help us see in low light and cones help us see fine details and color.
Retinitis Pigmentosa is considered a rare disease, affecting approximately 1 in 4,000 people worldwide.
However, considering how difficult it was for me to get my diagnosis, I imagine it might be more common than that.
I am documenting my own journey here not only for myself and for my loved ones, but with the hope that someone else may find help (and hope) more quickly than I did.
Some wonderful links for more information:
- Spark Therapeutics
- Foundation Fighting Blindness
- National Eye Institute
- American Academy of Ophthalmology
- American Foundation for the Blind
- Prevent Blindness
February is Retinitis Pigmentosa Awareness month and the cause’s color is purple.