Sol’s story: Retinitis pigmentosa

As a young child, Sol had no idea that anything was wrong – for him, it was normal to bump into objects or run into other children on the playground. It was his father who noticed something was off during a game of cricket. The ball had landed near Sol’s feet, but Sol struggled to locate it. This worried his dad.

Getting a diagnosis

Soon after the match, his dad took Sol, who was 11 years old at the time, to an optician. The optician thought the visual fields machine was broken because his results were so extreme.

Around a year and a half later, after seeing specialists in both Bristol and London, Sol was diagnosed with retinitis pigmentosa.

The diagnosis was determined in the standard way, by looking at images of the back of his eyes.

In 2016 he was invited to join the 100,000 Genomes Project to have his whole genome sequenced to see if a genetic cause could be determined for the condition.

He says: “I get a letter every 3 years or so saying they haven’t yet identified the cause – but I’m happy that my genome is still being looked at. So far this has prevented me from getting on a trial but as soon as it is found I would love to join one. I know it might be a long way off but having gene editing treatment is my long-term goal.”

Living with retinitis pigmentosa

Despite the challenges of sight loss, Sol is living life to the fullest. He’s enjoying his first year at university, is continuing to follow his passion for acting and is in rehearsals for a play.

Currently Sol has very limited peripheral vision. He explains: “I have 10 to 15% of the vision of most people and my night vision is poor. I need to use a cane at night-time and also in busy places such as railway stations.”

Even though Sol is still waiting for the genetic cause for his type of retinitis pigmentosa, he feels the future is exciting.

He’s very keen to encourage more people with sight loss conditions to contribute to genetic research, as scientific progress will advance more quickly if bigger numbers of people take part.

He says: “Do all you can to contribute to that base of knowledge to help others – we all have a responsibility to share information, it’ll only improve if more patients get involved. It is crucial for people like me to take part.”

How whole genome sequencing can help those with retinitis pigmentosa

Retinitis pigmentosa is an inherited condition. In most cases, it's linked to a recessive gene, which must be inherited from both parents.

But dominant genes and genes on the X chromosome have also been linked to RP. In some cases, a new genetic variation causes the condition to occur in a person who does not have a family history.

Whole genome sequencing for patients with RP can help to identify which of these might be the genetic cause of the condition. In turn, that knowledge can help doctors to identify effective treatments, such as gene therapy, which can help to slow or even stop the degeneration.

Sol adds: “People define themselves by their disability, but genetics gives you a more complex understanding of yourself and it helps you to plan your future life more confidently. It makes you think about how to live your life if you know you are going to lose more vision or go blind. Whole genome sequencing gives you a better picture – that’s also why I tell people to get involved.”