TheBlindJournalist: Impact of living with Retinitis Pigmentosa

“Could this be my last day seeing…”

TheBlindJournalist Mohammed Salim Patel looks at an eye condition which has the potential of leaving sufferers totally blind. The symptoms of the condition and the impact upon the patients and their families will be presented.

Vision is a sense that can be, and is, taken for granted by us all.

There are many different eye conditions out there in the world. Some more severe than others. Due to the nature of Retinitis Pigmentosa it would fall into the severe category simply because it can lead to a life without vision.

Retinitis Pigmentosa, or RP for short, is a degenerative and hereditary condition but unlike other eye conditions that can be controlled by wearing glasses, or having surgery. RP currently has no medical cure. However, there is a lot of money being spent around the world on research to find a cure. This has resulted in possible cures and pioneering surgery to take place on human ‘guinea pigs’. One of the latest advances has come from the Oxford University who have been working with Oxford Eye Hospital on a possible cure for blindness. They have called this treatment ‘gene therapy’.

Symptoms

In the back of the human eye there are light sensitive cells called photoreceptors. For those suffering with RP these cells gradually stop working as the condition deteriorates resulting in these cells dying and therefore entailing to blindness.

Furthermore, those with RP have night blindness because the cells in the eye which are used for seeing in low-light or complete darkness (rod cells) do not develop. RP sufferers also have tunnelled vision because their peripheral vision is non-existent.

All the symptoms that have been measured above are only a few of the main symptoms associated with the condition. However, there are a lot more.

Other symptoms include:

Scotoma – blind area in centre of vision

   

Constricted visual fields – no peripheral vision. If a ball was to be thrown at someone with RP they can’t see it coming in their direction, left or right, until it hits them; they wouldn’t know. Hence why there are no boxers who suffer from the condition.

Flashes – these are sudden flashes of light that originate in the eye. This is because the retina is tearing apart or detaching from the blood vessels that nourish it. Therefore causing sudden flashes caused by the brain as it tries to interpret the messages being sent due to the detachment.

Floaters – these can be either dark spots, thin white threads or cloudy areas floating in the eye. These can be scars on the retina making themselves visible. As sufferers age the floaters increase in number.

Increased glare sensitivity – glare is light that obscures or makes it difficult to see the intended visual target. Sunlight shining through a window or car head lights at night can be possible causes of glare affecting the patient. This is why some sufferers of RP struggle in sunlight due to shadows. Hence why they may were sunglasses or caps.

Reduced contrast sensitivity – this is where those who have RP cannot see or find objects due to the contrast sensitivity for example if they drop a 50p coin onto a white marbled floor they wouldn’t be abled to see it.

Reduced visual acuity – this is where vision is blurred and indistinctive. Small or distant objects become very blurred and significantly so in dim light. This is why a lot of light is essential in order for somebody with RP to see as best as possible.

Distorted colour sensitivity – this is where colours cannot be differentiated easily unless they are the primary colours. Therefore sometimes making it difficult to colour co-ordinate clothing.

Slow light adaptation –this is where an individual with RP takes a very long time to adjust from dark-to-light areas and light-to-dark areas. The transition period in order for the eyes to adjust to their surroundings can be extensive.

Sudden loss of whole or part of visual field – this can be a very serious issue that would need immediate medical consultation. It maybe symptom related or an issue with the brain and the eyes. For some sufferers the loss of visual field can last a short duration and for others it becomes lifelong. For some the area that has lost the vision becomes black or brightly coloured and for others they hallucinate.

Visual distortion – this symptom would also require immediate medical consultation. This is where straight lines become wavy or have breaks. Objects seem larger or smaller than usual. This is caused by sub-retinal bleeding and therefore distorting the retina.  

Simulator
Below are two images. Both images are of a window looking out into the garden. Image 1 is the view of a sighted person. Image 2 is the from the view from somebody who is at the halfway stage of Retinitis Pigmentosa.

Image 1:

Image 2:

Support

In the United States 1 in 3500 people suffer from the condition and approximately 1 in 3,000 to 4,000 people suffer from RP in the UK. In comparison to the population of the UK there is only a small minority of individuals suffering from RP however, in 1975 a society was founded by a group of people with the condition.

Chief Executive, of RP Fighting Blindness, David Head said:

“RP Fighting Blindness was founded because the group was concerned at the lack of knowledge about RP in the medical profession, the lack of treatment or cure, and the lack of support for people with RP”

“We exist to do two things; our first objective is to find a treatment for RP. Secondly we provide key information and support services to people with RP, their families, and indeed anyone with an interest in the condition”

Impact

Even though RP is an international eye condition the impact upon each individual varies from patient to patient.

Nadia, 18, from Blackburn who was diagnosed with RP at the age of seven said:

“Living with RP has presented me with an array of obstacles both physical and emotional. Nevertheless, I feel that it has moulded me in to the individual that I am today. I believe that every one of us is different in some way but for those of us who are more different, we simply need to convince the less different that we can do the same things they can, just differently or with some help. Optimism is key.”

Living with a visual impairment does not only affect the individual with the disability but also their family members.

Ilyas Patel, 47, Father of Nadia and TheBlindJournalist, said:

“My heart slumped and my tears were uncontrollable upon hearing the words from the consultant that

“I am really sorry to say Mr Patel but both your beautiful kids have RP and there is no cure”

RP isn’t a condition that is always diagnosed at an early age. The diagnosis can come at any point in a person’s life because the condition may not be apparent until the photoreceptor cells start to die and therefore impact upon the patient.

Junyad Ahmed, 15, from London, who was diagnosed at 14 said:

“Since being diagnosed with RP it has affected my life in many ways from my school life to my social life. It has pretty much affected all aspects of my life. I am missing out on things that sighted people are able to do such as go out at night but I am hopeful to Allah that things will change for the positive one day. It is very hard for me to be positive because I am really struggling to come to terms with the condition I have and the possible way in which it may impact on my life. I cannot comprehend what a life will be like being totally blind. I get very depressed and upset whenever I think about RP. My sister has lost her sight due to the condition and that scares me even more. Knowing that there is a lot of research taking place for cures is what I hold on to for hope and I hope that one day things will change for the better”

That day seems to be coming soon. Junyad has been referred to receive the gene therapy trial.

Due to RP being an inherited condition it is common that siblings will both suffer from the condition and that one of the siblings, if not both, carry the RP gene and therefore could pass it on to their children.

Rukshana Shaheen, 29, a single Mum from Birmingham said:

“It hasn’t been easy being a mum with an eye condition. I can’t always do certain activities with my daughter. But she understands and she is very supportive. If it wasn’t for my daughter I don’t think I could cope. We fight it together.”

Cure

The latest breakthrough in a cure for RP came in January of this year. Gene therapy is where a harmless virus carries a working copy of a gene, which sufferers do not have, and this virus is injected behind the retina using a fine needle. The virus infects light sensitive cells and the gene is then released. This gene then produces protein which helps preserve vision.   Professor, 

Robert MacLaren, of Oxford University who is leading the trial said:

“In truth we did not expect to see such dramatic improvements in visual activity. It is still too early to know if the gene therapy treatment will last indefinitely”

However, it seems that there may be light at the end of the tunnel for a cure to Retinitis Pigmentosa.

TheBlindJournalist Mohammed Salim Patel reporting