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KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-05-22 , DOI: 10.1080/13816810.2020.1766087
Thales A C De Guimaraes 1, 2 , Michalis Georgiou 1, 2 , Anthony G Robson 1, 2 , Michel Michaelides 1, 2
Affiliation  

ABSTRACT

KCNV2

-associated retinopathy or “cone dystrophy with supernormal rod responses” is an autosomal recessive cone-rod dystrophy with pathognomonic ERG findings. This gene encodes Kv8.2, a voltage-gated potassium channel subunit that acts as a modulator by shifting the activation range of the K+ channels in photoreceptor inner segments. Currently, no treatment is available for the condition. However, there is a lack of prospective long-term data in large molecularly confirmed cohorts, which is a prerequisite for accurate patient counselling/prognostication, to identify an optimal window for intervention and outcome measures, and ultimately to design future therapy trials. Herein we provide a detailed review of the clinical features, retinal imaging, electrophysiology and psychophysical studies, molecular genetics, and briefly discuss future prospects for therapy trials.



中文翻译:

KCNV2视网膜病变:临床特征,分子遗传学和未来治疗方向。

摘要

KCNV2

相关性视网膜病变或“锥体棒反应异常的圆锥型营养不良”是一种常染色体隐性隐性锥体棒营养不良,伴有病理性ERG表现。该基因编码Kv8.2,它是一个电压门控的钾离子通道亚基,通过改变K +的激活范围来充当调节剂。感光器内部片段中的通道。目前,尚无针对该疾病的治疗方法。但是,在大分子确认的队列中缺乏前瞻性的长期数据,这是准确的患者咨询/预后,确定干预和结果措施的最佳窗口以及最终设计未来治疗试验的前提。在这里,我们提供了临床特征,视网膜成像,电生理学和心理生理学研究,分子遗传学的详细综述,并简要讨论了治疗试验的未来前景。

更新日期:2020-05-22
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