Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism
Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism
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DOI：
10.1111/pcmr.12782
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发表时间：
2019-09-01
影响因子：
4.3
通讯作者：
Lotery, Andrew
中科院分区：
文献类型：
--
作者：
Lee, Helena;Scott, Jennifer;Lotery, Andrew
白化病是一组以色素缺乏和视网膜发育异常为特征的疾病。尽管它是世界范围内视觉障碍的常见原因，但治疗方法却很缺乏，患者通常会终身遭受视觉障碍。年幼的白化病儿童视网膜发育的残余可塑性已被证实，这提示了一个产后治疗拯救的窗口。l - 3,4二羟基苯丙氨酸（L-DOPA）是一种对正常视网膜发育至关重要的关键信号分子，已知在白化病中缺乏。在这项研究中，我们首次证明了出生后补充左旋多巴可以挽救人类白化病小鼠模型的视网膜发育、形态和视觉功能，但仅在出生后或出生后15天给予。
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.