OLIVIA study

There is a paucity of treatment options for albinism, a condition characterised by pigment deficiency and abnormal retinal development which results in a significant degree of visual disability. In this study, we aim to develop a treatment to improve vision in albinism. Our approach will be based on a similar concept to that of amblyopia treatment, where correcting the cause of the visual abnormality in early childhood results in improvements in vision due to neuroplasticity. We have previously demonstrated residual plasticity of the
developing albino retina in young children, importantly suggesting a window, where we can modulate retinal development and improve visual function. L-3,4
dihydroxyphenylalanine (L-DOPA), a signalling molecule which is essential for normal retinal development, is known to be deficient in albinism. One potential treatment in albinism is L-DOPA replacement using an oral levodopa drug suspension - a drug that is currently being used safely to treat infants as young as 3 months of age with infantile dystonia. Prenatal oral L-DOPA replacement appears to be effective in animal models of albinism. However, whether oral L-DOPA supplementation will also be effective in modulating postnatal retinal development and visual function is unknown.

The aims of the proposed study is to:

1. Prove, for the first time, that post-natal retinal development, morphology and visual function in albinism can be modulated through oral L-DOPA supplementation in a murine model of albinism
2. Characterise the response of the developing albino retina to different doses and timing of postnatal L-DOPA supplementation
3. Test the feasibility of the intervention and trial procedures for a future randomised controlled clinical trial to test efficacy and safety of oral levodopa treatment in children with albinism