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首页> 美国卫生研究院文献>Taylor Francis Open Select >KCNV2 retinopathy: clinical features moleculargenetics and directions for future therapy
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KCNV2 retinopathy: clinical features moleculargenetics and directions for future therapy

机译：KCNV2视网膜病：临床特征分子未来治疗的遗传学和方向

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摘要

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

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