With the advent of gene therapies for inherited retinal degenerations (IRDs), genetic diagnostics will have an increasing role in clinical decision-making. Yet the genetic cause of disease cannot be identified using exon-based sequencing for a significant portion of patients. We hypothesized that noncoding pathogenic variants contribute significantly to the genetic causality of IRDs and evaluated patients with single coding pathogenic variants in RPGRIP1 to test this hypothesis.

中文翻译：

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非编码致病变异对 RPGRIP1 介导的遗传性视网膜变性的贡献。

随着遗传性视网膜变性 (IRD) 基因疗法的出现，基因诊断将在临床决策中发挥越来越大的作用。然而，对于很大一部分患者，使用基于外显子的测序无法确定疾病的遗传原因。我们假设非编码致病变异对 IRD 的遗传因果关系有显着影响，并评估了 RPGRIP1 中具有单一编码致病变异的患者以检验这一假设。