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Review Article

眼部纤毛病：发展治疗的遗传和机制见解

卷 26, 期 17, 2019

页: [3120 - 3131] 页: 12

弟呕挨: 10.2174/0929867325666180917102557

价格: $65

摘要

为遗传病开发合适的药物不仅需要详细了解导致疾病的途径，还需要详细了解疾病表现所涉及的遗传成分。 本文重点讨论与眼部纤毛病相关的复杂性 - 一种由纤毛功能障碍引起的眼部衰弱性疾病。 已经在眼睛的前段和后段识别出纤毛细胞类型。 光感受器（视杆细胞和视锥细胞）是视网膜中研究最多的纤毛神经元，位于后眼。 光感受器包含专门的光敏外部区域或纤毛。 外段的发育或维持中的任何缺陷都可导致严重的视网膜纤毛病，例如色素性视网膜炎和Leber先天性黑朦。 还已经认识到纤毛在涉及调节眼前段中的水性流体流出的细胞类型中的作用。 这些细胞类型的缺陷通常与某些形式的青光眼有关。 在这里，我们将讨论了解遗传异质性和眼球状病的发病机制的重要性，以制定这些致盲疾病的合适治疗策略。

关键词: Leber先天性黑朦，光感受器，遗传性疾病，眼部纤毛虫，光感受器，后眼，先天性黑朦。

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