Abstract

Albinism is a group of disorders characterized by pigment deficiency and abnormal retinal development. Despite being a common cause for visual impairment worldwide, there is a paucity of treatments and patients typically suffer lifelong visual disability. Residual plasticity of the developing retina in young children with albinism has been demonstrated, suggesting a post‐natal window for therapeutic rescue. L‐3, 4 dihydroxyphenylalanine (L‐DOPA), a key signalling molecule which is essential for normal retinal development, is known to be deficient in albinism. In this study, we demonstrate for the first time that post‐natal L‐DOPA supplementation can rescue retinal development, morphology and visual function in a murine model of human albinism, but only if administered from birth or 15 days post‐natal age.

Highlights

  • We demonstrate for the first time that post-natal L-DOPA supplementation can rescue retinal development, morphology and visual function in a murine model of human albinism, but only if administered from birth or 15 days post-natal age

  • Main Text Introduction Albinism is a group of disorders of melanin biosynthesis that affects 1 in 4000 people in the UK, and 1 in 1000 people in sub-Saharan Africa.(Hong, Zeeb, & Repacholi, 2006; Sarvananthan et al, 2009) It can be divided into two subtypes: autosomal recessive oculocutaneous albinism (OCA) which manifests as hypopigmentation in the skin, hair and eyes and X-linked ocular albinism, which only manifests in the eyes

  • L-DOPA is known to be deficient in the developing retina in OCA.(Roffler-Tarlov et al, 2013) In this study, we have demonstrated for the first time that it is possible to modulate postnatal retinal morphology and rescue function and in albino (CALBs) mice, through the administration of a 28-day course of oral L-DOPA

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Summary

Introduction

Albinism has significant effects on school performance, employment and quality of life, and carries a negative stigma especially in people of Southeast Asian and African descent.(Kiprono, 2012; Maia, Volpini, dos Santos, & Rujula, 2015) To date, children with albinism have been deprived of an effective treatment. For these reasons, one of the top 10 research priorities in Childhood Onset Disorders, as determined by the Sight Loss and Vision Priority Setting Partnership in 2013, is: "Can a treatment be developed to improve vision for people with albinism?”

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