Retinitis Pigmentosa: Disease Mechanisms, Diagnosis, and Therapies.
Retinitis Pigmentosa: Disease Mechanisms, Diagnosis, and Therapies.
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色素性视网膜炎：疾病机制、诊断和治疗。
DOI：
10.1155/2015/819452
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发表时间：
2015
影响因子：
1.9
通讯作者：
Mansfield,David
中科院分区：
文献类型：
--
作者：
Shu,Xinhua;Pang,Ji-Jing;Zhang,Houbin;Mansfield,David
视网膜色素变性（RP）是最遗传和表型异质性疾病，其特征在于感光细胞的进行性死亡。近年来，在理解疾病机制、识别致病基因和开发治疗策略方面取得了巨大进展。本特刊更新了RP的知识，并介绍了原始的临床和实验研究。已知光感受器细胞死亡的特征是在早期由caspase依赖或不依赖的凋亡和在晚期由坏死，但分子机制尚未完全理解。在这个特殊的问题上，S。R. Patnaik等人综述了RPGR蛋白复合物在RP发病机制中的功能作用。在小鼠中进一步阐明了疾病机制（Q. Zheng et al.）和斑马鱼模型（Y. Liu et al.和S. Akhtar等人）。R. Migliorini等人讨论了RP相关综合征，如眼球运动受损。E. Strobbe等报道了早期RP患者眼部炎症与内皮素（ET-1）血浆水平之间的相关性，并建议抗炎治疗可减缓RP的进展。
Retinitis pigmentosa (RP) is the most genetically and phenotypically heterogeneous disorder, characterized by the progressive death of photoreceptor cells. In recent years, huge advances have been made in understanding the disease mechanisms, identifying causal genes, and developing therapeutic strategies for this disorder. This special issue updates the knowledge of RP and presents original clinical and experimental research.Photoreceptor cell death is known to be characterized at the early stage by caspase dependent or independent apoptosis and at late stage by necrosis, but the molecular mechanisms are not fully understood. In this special issue, S. R. Patnaik et al. review the functional role of RPGR protein complex in the pathogenesis of RP. Disease mechanisms are further elucidated in mouse (Q. Zheng et al.) and zebrafish models (Y. Liu et al. and S. Akhtar et al.). R. Migliorini et al. discuss RP associated syndromes, such as impaired ocular motility. E. Strobbe et al. report a correlation between ocular inflammation and endothelin (ET-1) plasma levels in early RP patients and suggest that anti-inflammatory therapy may slow the progression of RP.