13-year-old London boy who 'can't see the colours of Christmas'

Avi Krishnan, who lives in Pinner, North West London, with mum Janki, dad Anant and younger brother Aarav, was diagnosed at two and half years old with achromatopsia, an inherited eye condition thought to affect 1 in 30,000 people worldwide and for which there is currently no cure.

The condition causes problems in the retina, the light-sensitive tissue at the back of the eye.

As well as not being able to see the colours of the festive season, bright lights, such as fairy lights adorning Christmas trees, hurt Avi’s eyes.

Avi says: “I can't see any colour and in general I can't see as far away as other people can. And when it's very bright, it's a bit difficult to see.”

Avi also has nystagmus, which means that his eyes ‘wobble’, which first alerted his parents to the fact that something was wrong.

Mum, Janki, explains: “Before he was one, we noticed that he wasn't pointing, nor making the appropriate sounds in terms of talking as well. Developmentally, we felt that there was something not quite right.”

A health visitor referred Avi to a paediatrician, who dismissed Janki’s suggestion that this was down to vision issues.

The family disagreed, and Avi was eventually referred to Great Ormond Street Hospital, where tests revealed his achromatopsia was caused by Avi inheriting two separate “faulty” genes from each parent.

“We were told that he would only see in shades of grey. It came as quite a shock,” says Janki, who has a degree in genetics. “I remember doctors saying Avi wouldn’t be able to drive, and for some reason, that felt like the most shocking, horrible thing at the time.”

Janki says it is when she’s out with Avi and his younger brother Aarav that she notices his eye condition most.

“Every time I see a rainbow; my instinct is to point it out to the children. But then I do have to check myself because, obviously, Avi can't see the colours, and I’m not sure if he sees the rainbow at all.”

Achromatopsia research is focused on developing cutting-edge gene therapies that aim to deliver a correct copy of the faulty gene into the patient’s cone cells, restoring their function.

In 2020, Avi missed his school Christmas celebrations, due to being one of nine children in the UK to receive pioneering gene therapy of his specific gene defect at Moorfields Eye Hospital in London. The trial was led by Michel Michaelides, Avi’s consultant who received an initial grant for his work into achromatopsia in 2010, funded by Fight for Sight.

Since the trial, there has been a marginal improvement in Avi’s left eye which is the eye that was injected with the gene therapy. He has slightly better perception and less nystagmus and light sensitivity.

When the opportunity to take part in the trial arose, the family jumped at it. Janki says: “Research takes time. It takes a lot of time and money and may not work perfectly or at all, but we just felt that we couldn't miss that opportunity to try. That's what research is about. If we can help progress any kind of understanding into sight loss, that's beneficial as well.”

As well as contributing to research, the family are committed to raising awareness and fundraising for Fight for Sight. Last year, Avi, his brother Aarav and dad Anant each swam 8km in 30 days, with Janki counting laps, raising £2,500 for the charity.

Both boys have also given talks at school. Avi’s dad, Anant, a radiologist, says: “After Aarav’s speech, an older pupil told him he also had nystagmus. This is why it’s important to share stories; to reach people.”

Despite the challenges he faces and his young age, Avi is determined to make a difference. He says: “I’m at the stage where I can give back. Fight for Sight is a wonderful charity with a mission to stop sight loss through pioneering research, and we need funding to get there.” He’s looking forward to Christmas, which he says, “has a certain smell. I’m excited because I wonder what gifts we are going to get!”

His brother Aarav remains Avi’s biggest cheerleader, adding: “The world isn’t built for people like my brother, even though he’s brilliant. Avi is funny, kind, incredibly clever and my best friend. I’m very proud of him and lucky to have him as my big brother.”

Keith Valentine, CEO, Fight for Sight, says: “We are so grateful to Avi and his family for sharing their story and for their fantastic awareness raising and fundraising efforts. Sight loss research has come on in leaps and bounds in recent years, and we are confident that the development of AI will quicken its pace considerably. There is a lot to be optimistic about this Christmas when it comes to sight loss research, but more funding is desperately needed to speed up the process. We are extremely grateful to everyone who has donated to our Christmas appeal so far, helping us to save sight and change lives.”

If you would like to donate to Fight for Sight’s Christmas Appeal, please visit: Christmas 2025 | Fight for Sight