Image of a retina in a in a colored scanning electron micrograph. The light-detecting part of the retina is formed of rod and cone photoreceptor cells that are responsible for everything we see. The lower third of this image depicts the layer of blood vessels and nerves that light must penetrate to reach the tightly packed photoreceptors which lie just below a layer of retinal pigment epithelium cells.
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Retinitis Pigmentosa: A Journey Through Sight Loss and the Need for Supportive Care

Retinitis Pigmentosa is a rare genetic disorder that leads to the gradual loss of vision. For many, the condition starts with night blindness and eventually progresses to tunnel vision, color blindness, and complete blindness. While the disease affects people worldwide, it is especially common in India. Research shows that South India has a higher incidence with 1 out of 930 people having Retinitis Pigmentosa.

In 2019, Edith and Sébastien Pelletier, a Canadian couple, received life-altering news: three of their four children were diagnosed with Retinitis Pigmentosa. Knowing that their children’s sight would gradually deteriorate, they embarked on a global journey, hoping to fill their children’s visual memories with beautiful experiences before blindness set in. Their journey, documented in the film Blink, sheds light on the challenges faced by those living with Retinitis Pigmentosa and the importance of preparing for the future.

Official trailer of National Geographic Documentary Film “Blink”

So, what is Retinitis Pigmentosa?

Retinitis Pigmentosa is a genetic disorder caused by mutations in the genes responsible for the retina’s functioning. The retina is a thin layer of tissue at the back of the eye that is critical for vision. It contains cells called photoreceptors — rods and cones — that capture light and send signals to the brain, allowing us to see. In people with Retinitis Pigmentosa, these photoreceptor cells slowly deteriorate and die over time, leading to vision loss.

While Retinitis Pigmentosa can be caused by external factors like infections or injuries, it is most commonly inherited. There are over 3,100 different genetic mutations known to cause Retinitis Pigmentosa, making it a complex disease with no single solution.

One of the biggest challenges in treating Retinitis Pigmentosa is the wide variety of gene mutations that cause the disease. Currently, there is no cure, and treatments are limited. Luxturna, a gene therapy approved by the U.S. Food and Drug Administration (FDA), offers hope to a small percentage of Retinitis Pigmentosa patients, but it targets only two specific gene mutations. This means that it can only help around 0.3 to 1 percent of Retinitis Pigmentosa patients.

While there is no cure for Retinitis Pigmentosa, supportive care is essential in helping individuals with the condition maintain their independence and quality of life. Early detection, counseling, orientation, mobility training, and psychological support can make a significant difference.

In India, where many people face barriers to accessing specialized care, supportive care is especially crucial. Organizations like Score Foundation’s Eyeway Toll-Free Helpdesk provide guidance and information to individuals with blindness, including those with Retinitis Pigmentosa, to help them navigate the challenges they face.

One of the key aspects of supportive care is orientation and mobility (O&M) training. As vision deteriorates, individuals with Retinitis Pigmentosa may struggle to navigate their environment safely. O&M training helps them develop skills to move around confidently using canes, guide dogs, or even technology like GPS-based apps. The psychological impact of losing one’s vision can be profound. Many people with Retinitis Pigmentosa experience anxiety, depression, and isolation. Counseling can help individuals cope with these feelings and adjust to life with reduced or no vision. Family members also play a crucial role in this journey, and counseling can support them as they help their loved ones adapt to the condition. For individuals with Retinitis Pigmentosa in India, access to support networks is very important. Blindness is often misunderstood, and those affected may face social stigma or a lack of understanding from their communities. Connecting with others who share similar experiences can provide emotional support and practical advice.

While Retinitis Pigmentosa is a life-altering condition, supportive treatments can help individuals with the disease maintain their independence and live fulfilling lives. Early intervention, coupled with O&M training, counseling, and psychological support, can make a significant difference in managing the challenges of Retinitis Pigmentosa.

(Note: India accounts for around 20% of the global blind population. Project Eyeway is an initiative by Score Foundation that acts as a one-stop knowledge resource for those people who are living their lives with blindness. Eyeway operates a national toll-free Helpdesk — 1800 53 20469.)

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