What is Retinitis Pigmentosa?
When I was 33 years old, I was diagnosed with an inherited retinal disease called retinitis pigmentosa, commonly referred to as RP. RP is not a single disease process, but rather a group of genetically-transmitted disorders with similar features.
How common is RP?
RP is rare, affecting 1 in 4000 people in Europe and the United States, accounting for about 100,000 cases. Worldwide, 1 in 5000 people are affected, comprising about 2 million cases.
Who is affected by RP?
RP impacts both men and women, with slightly more men affected. While some people are diagnosed in childhood or their teenage years, the majority are diagnosed in their 20s or early 30s.
Patterns of genetic transmission include autosomal recessive, autosomal dominant, and X-linked. The term “autosomal” means that the affected gene is carried on one of the numbered or non-sex chromosomes. In autosomal dominant cases, a ssingle mutated gene received from one parent can cause the disease, while autosomal recessive cases require the same mutated gene to be passed on from both parents in order for their offspring to display the disease. In X-linked cases, the mutated gene is passed on the X chromosome.
How does RP impact the retina?
RP attacks the light receptor cells that line the retina at the back of the eye. The light receptors, called photoreceptors, are an essential part of the process of converting light into images in the brain, allowing our brains to visually interpret the world around us. RP causes the photoreceptors scattered across the retina to die. As more and more photoreceptors die, the person loses more and more of their visual field.
What are the symptoms of RP?
Typically, the first reported symptom is loss of night vision. As the disease progresses, there is a narrowing of the visual field, and later in the disease process, many report tunnel vision. Loss of visual acuity and the ability to distinguish colors are also later symptoms. While the disease can progress to total blindness, most people retain the ability to distinguish light from dark. The progression of the disease is very individualized. The pattern and rate of vision loss is different for everyone. Typically, the progression is slow and the loss of vision is a gradual process. While some people lose the bulk of their vision in their teenage years, others can maintain some level of vision into their 70s and beyond. Some people lose their far peripheral vision initially, while others first lose vision closer to the center of the visual field. There is no way to predict the pattern of the disease or how rapidly the vision loss will progress.
What treatments are available for RP?
There is no cure for RP at this point. However, in recent years, significant progress has been made on a variety of treatment options, including gene therapy, nutritional therapy, and stem cell research. These treatment options are still in various stages of clinical trials, but their progress is very encouraging. The research is advancing at a rapid pace, inspiring hope that there will be viable treatment options available in the not-too-distant future.
Want more information?
For more detailed technical information on the disease process as well as updates on the clinical research regarding treatment options, check out The FoundationFighting Blindness at www.blindness.org
For excellent video and podcast offerings on coping with progressive vision loss, explore the resources at hadley.edu: https://hadleyhelps.org/
For real-life insights into the journey through progressive vision loss, check out my inspirational memoir, “Rough Places Smooth: Moments In A Journey Through Blindness” by Anita Peden Sherer. Now available on Amazon in paperback or Kindle ebook.
-APS 6/14/2024
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NOTE: these posts and references are intended to share helpful information and personal insights about coping with progressive vision loss. This content is not intended to replace appropriate medical advice. For specific concerns related to your personal vision, please consult your doctor.
Want to read more of Anita’s story?
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Rough Places Smooth:
Moments in a Journey Through Blindness
by Anita Peden Sherer
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Faith Beyond Sight 