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USH2A-retinopathy: From genetics to therapeutics
Experimental Eye Research ( IF 3.4 ) Pub Date : 2020-10-27 , DOI: 10.1016/j.exer.2020.108330
Lyes Toualbi 1 , Maria Toms 1 , Mariya Moosajee 2
Affiliation  

Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod photoreceptor loss resulting in nyctalopia and a constricted visual field, followed by subsequent cone degeneration, leading to the loss of central vision and severe visual impairment. The USH2A gene raises many challenges for researchers and clinicians due to a broad spectrum of mutations, a large gene size hampering gene therapy development and limited knowledge on its pathogenicity. Patients with Usher type 2 may benefit from hearing aids or cochlear implants to correct their hearing defects, but there are currently no approved treatments available for the USH2A-retinopathy. Several treatment strategies, including antisense oligonucleotides and translational readthrough inducing drugs, have shown therapeutic promise in preclinical studies. Further understanding of the pathogenesis and natural history of USH2A-related disorders is required to develop innovative treatments and design clinical trials based on reliable outcome measures. The present review will discuss the current knowledge about USH2A, the emerging therapeutics and existing challenges.



中文翻译:

USH2A-视网膜病变:从遗传学到治疗学

USH2A基因中的双等位基因变异可导致 2 型亚瑟综合征和非综合征性视网膜色素变性。在这两种疾病中,视网膜表型均涉及进行性杆状光感受器丧失,导致夜盲症和视野狭窄,随后发生视锥细胞变性,导致中央视力丧失和严重视力障碍。由于突变范围广、基因尺寸大阻碍了基因治疗的发展以及对其致病性的了解有限,USH2A基因给研究人员和临床医生带来了许多挑战。Usher 2 型患者可能受益于助听器或人工耳蜗来纠正听力缺陷,但目前尚无批准的治疗USH2A视网膜病变的方法。包括反义寡核苷酸和翻译通读诱导药物在内的几种治疗策略已在临床前研究中显示出治疗前景。需要进一步了解USH2A相关疾病的发病机制和自然史,以开发创新疗法并根据可靠的结果指标设计临床试验。本综述将讨论有关USH2A的当前知识、新兴疗法和现有挑战。

更新日期:2020-12-09
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