Hope for young children with impaired eyesight caused by albinism

Groundbreaking research to improve the vision of children born with albinism has been awarded over half a million pounds.

Albinism is a rare genetic condition caused by a lack of the pigment melanin. Children born with it often have poor eyesight.

The OLIVIA study has been awarded £542,000 from the Medical Research Council to investigate a potential treatment. Babies at University Hospital Southampton (UHS) will be able to take part.

This research is led by Southampton’s Dr Helena Lee. She is an Associate Professor at the University of Southampton and an Honorary Consultant Ophthalmologist at UHS.

Helping children with albinism

Melanin gives eyes, skin and hair their colour. People with albinism, who lack melanin, therefore have extremely pale skin, eyes and hair.

Having a reduced amount of melanin can also affect how babies’ retinas develop. This makes their eyes very sensitive to light, and leaves them with severe sight problems as they grow up.

Dr Lee says: “We have spent years researching how we can help children with albinism to improve their chances of growing up with better sight. We believe we’ve found a treatment which will help them. This award means we can start testing this in the real world.

“We aim to initially use this funding to run a small scale trial with around 10 infants. Later we’d hope to run a larger one and also monitor the children’s progress as they grow up. We want to transform how we treat albinism in children, while also setting an important precedent for other paediatric eye diseases.”

Narrow treatment window

Between 1 in 12,000 to 1 in 15,000 people in European countries have albinism. Among other effects, it is associated with a deficiency in L-DOPA. This chemical is essential for normal retinal development. The deficiency contributes to significant visual impairment in affected children.

Over several years, Dr Lee has investigated whether replacing L-DOPA could positively influence eye development. She has found a drug called Levodopa, which is commonly used to treat Parkinson’s Disease, could hold the key. Given by mouth to infants, in specific doses under controlled conditions, Levodopa may encourage normal retinal development in babies with albinism. However, the treatment window is narrow.

“With some eye conditions, intervention to treat children is needed before they reach the age of around eight,” says Dr Lee. “In children with albinism, we believe this window is even narrower – with treatment required before they are two years old.”

Support from parents

Reaching this trial milestone was made possible, in part, by the incredible fundraising efforts of Joe Marsden and Abby Arrowsmith. Both have young children whose sight is affected by albinism.

Joe and Abby raised over £43,000 for the University of Southampton charity, Gift of Sight. These funds will help support the study.

Joe’s two year old daughter Raya wears glasses for short-sightedness and to protect her eyes. Abby’s daughter Amelia is also two and severely visually impaired.

Abby commented: “As a family we are over the moon that the research has been given the go ahead. It’s really exciting to imagine how many children could benefit in the years to come.”

Joe completed seven marathons, in seven cities, in seven days for Gift of Sight.

Commenting on this step forward in the research, Joe said: “Raya’s albinism diagnosis was a complete surprise to us, as none of our other three children had been born with this condition.

“Diving into the world of albinism has really helped us understand the incredible work that is going on in research and the amazing people working behind the scenes to make a difference.

“News of this new funding to allow trials to go ahead is fantastic. Along with the money I and others have raised, I hope it will give a massive boost to efforts to develop a treatment and help other young children in the future in the same situation as Raya.”

If successful, the OLIVIA study could also pave the way for identifying and implementing new therapies for other childhood eye conditions.