Retinitis pigmentosa (RP) is a rare progressive eye disorder that often leads to blindness. In National Geographic’s new documentary Blink, the reality of living with retinitis pigmentosa comes to life through the story of a Canadian couple, Édith Lemay and Sebastian Pelletier, whose three children are affected by the condition. Knowing their children’s vision is gradually diminishing, the couple decided to take them on an unforgettable journey to see the world before their sight fades.
By bringing retinitis pigmentosa to the public’s attention, Blink spotlights the challenges and unique experiences of those with visual impairment. We spoke with an expert to better understand retinitis pigmentosa, its effects on vision, and how to support individuals with this condition.
DISCLAIMER: This article is based on information from the public domain and/or the experts we spoke to. Always consult your health practitioner before starting any routine.
What is retinitis pigmentosa?
Dr Navya Reddy, consultant ophthalmologist at Athreya Hospital, tells indianexpress.com, “Retinitis pigmentosa is a genetic degenerative eye disorder that affects the retina, leading to progressive vision loss and, in many cases, eventual blindness. It primarily affects the photoreceptor cells (rods and cones) responsible for detecting light and transmitting signals to the brain.”
She reveals that retinitis pigmentosa is “among the leading causes of blindness in younger individuals, with symptoms often beginning in childhood or early adolescence.” This early onset distinguishes it as a significant cause of vision loss in younger populations, although the progression rate can vary.
Vitamin A supplementation has also been studied as a way to slow retinal degeneration (Source: Freepik)
Early symptoms of retinitis pigmentosa
According to Dr Reddy, the early symptoms of retinitis pigmentosa often begin with night blindness, where individuals struggle to see in low-light or dark environments due to the degeneration of the retina’s rod cells.
“This is followed by a gradual loss of peripheral vision, often called tunnel vision. Eventually, the disease can lead to the loss of central vision as the cone cells deteriorate. The severity, onset, and progression of symptoms can vary widely depending on the specific genetic mutation causing the disorder. Some may retain partial vision for decades, while others experience rapid progression,” she states.
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Specific genetic factors or triggers that increase the likelihood of developing retinitis pigmentosa
RP is a genetically inherited disorder that can be passed down through autosomal dominant, autosomal recessive, or X-linked patterns, says Dr Reddy. “Over 60 genes have been identified as potential contributors to the development of this disorder. Mutations in these genes affect the proteins crucial for the structure and function of photoreceptor cells in the retina.”
She notes that genetic testing can often identify the specific mutation responsible for the disease, providing insights into the inheritance patterns and the likelihood of passing it on to future generations. While the disorder is primarily genetic, no clear environmental triggers have been identified.
Current treatment options
Dr Reddy mentions, “Currently, there is no cure for retinitis pigmentosa, but several treatments aim to slow the progression of the disease and preserve vision. Gene therapy has shown promise, particularly with treatments like voretigene neparvovec (Luxturna), designed to treat certain genetic mutations by restoring some retinal function.”
Vitamin A supplementation has also been studied as a way to slow retinal degeneration, she adds, though its efficacy is still debated. “Experimental treatments, such as stem cell therapy and retinal implants, are being researched, with some early successes in animal models and clinical trials. These interventions aim to prolong the functional lifespan of photoreceptor cells, though their effectiveness varies based on the genetic makeup and progression of the disorder.”
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DISCLAIMER: This article is based on information from the public domain and/or the experts we spoke to. Always consult your health practitioner before starting any routine.