Feasibility Of Oral Levodopa Treatment In Improving Visual Development In Infants And Young Children With Albinism

Albinism is a group of disorders that are characterised by a lack of pigment in the skin, hair and eyes, nystagmus (rapid, involuntary eye movements), strabismus (a misalignment of the eyes), refractive errors (the eye's shape prevents light from focusing correctly on the back of the eye, resulting in blurred vision), abnormalities of retinal development & optic nerve misrouting. Currently, there are no treatments for the eye problems seen in albinism. The average best corrected (that is with glasses) vision in albinism at 20/80, is below UK driving standards. Vision in albinism can be variable depending on circumstances and can be as low as 20/400 in the most severely affected cases. This has significant implications for school, work and social life. Consequently, the majority of people affected by albinism are registered as sight impaired/disabled in the UK. In addition, albinism has been described as a global medical and social emergency. This is why finding a treatment that can improve eyesight in albinism, was named as a priority by the James Lind Sight Loss and Vision Priority Setting Partnership in 2013. We know that the brain has the amazing ability to change and adapt, especially in children. We also know that we make use of the brain's ability to rewire itself, when we improve eyesight in lazy eyes using glasses and patching. In albinism, a chemical called L-DOPA is missing from the eye and this causes problems with eye development. This is why eyesight is so poor in albinism. However, the eye is still able to change and develop in young children with albinism. Similar to the treatment of lazy eyes, we can target this flexibility in albinism. Replacing L-DOPA in albinism at a young age, could improve eye development and eyesight and we will look at whether or not this is likely to work in this project. We have proven that we can change how the eye develops and improve eyesight in albinism after birth, by replacing the missing L-DOPA in mice with albinism. The next stage of this work is to lay the foundations for a future clinical trial to confirm that this treatment is safe and effective in infants and young children with albinism. The aim of this study is to, therefore, carry out a small trial of L-DOPA treatment in children with albinism. L-DOPA is a safe medicine that is currently being used to treat infants and young children born with problems in controlling movement of their limbs. We will explore, together with the parents of the affected children, if the treatment and examinations carried out as part of this trial are reasonable. If successful, this study will lead to a bigger study that will prepare for a full clinical trial.