Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
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DOI：
10.1111/nyas.12990
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发表时间：
2016-05
影响因子：
5.2
通讯作者：
Wang QJ
中科院分区：
文献类型：
--
作者：
Ouseph MM;Kleinman ME;Wang QJ
幼年神经元蜡样质脂褐质沉着症（JNCL；也称为 CLN3 病）是一种破坏性神经退行性溶酶体贮积症，也是巴顿病最常见的形式。进行性视觉和神经系统症状导致患者在三十岁时死亡。尽管神经元蜡质脂褐素沉积症 3 (CLN3) 已被确定为唯一的疾病基因，但 JNCL 的生化和细胞基础以及 CLN3 的功能尚未完全了解。由于严重的眼部病变在疾病进展的早期就表现出来，因此视网膜是研究阐明疾病病因和设计治疗方法的理想组织。人类 JNCL 和现有的小鼠模型之间的眼部表型存在显着差异，这阻碍了对视力障碍进展过程中发生的事件顺序的研究。本综述重点介绍了目前对 JNCL 视力丧失的认识，并讨论了对该疾病发病机制和相关视力问题进行分子解剖的未来研究方向，以最终提高患者的生活质量并治愈该疾病。
Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storage disorder and the most common form of Batten disease. Progressive visual and neurological symptoms lead to mortality in patients by the third decade. Although ceroid-lipofuscinosis, neuronal 3 (CLN3) has been identified as the sole disease gene, the biochemical and cellular basis of JNCL and the functions of CLN3 are yet to be fully understood. As severe ocular pathologies manifest early in disease progression, the retina is an ideal tissue to study in the efforts to unravel disease etiology and design therapeutics. There are significant discrepancies in the ocular phenotypes between human JNCL and existing murine models, impeding investigations on the sequence of events occurring during the progression of vision impairment. This review focuses on current understanding of vision loss in JNCL and discusses future research directions toward molecular dissection of the pathogenesis of the disease and associated vision problems in order to ultimately improve the quality of patient life and cure the disease.
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