Rod cone dystrophy (RCD), also known as retinitis pigmentosa, is an inherited condition leading to vision loss, affecting 1/3500 people. Over 270 genes are known to be implicated in the inherited retinal degenerations (IRDs), yet genetic diagnosis for ∼30% IRD of patients remains elusive despite advances in sequencing technologies. The goal of this study was to determine the genetic causality in a family with Rod-cone dystrophy (RCD). Family members were given a full ophthalmic exam at the Retinal Service at MEE and consented to genetic testing. Whole exome sequencing (WES) was performed and variants of interest were Sanger validated. Functional assays were conducted in zebrafish along with splicing assays in relevant cell lines to determine the impact on retinal function.

中文翻译：

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已知 IRD 基因中隐藏的结构变异：两个新疾病候选基因的警示故事

视杆细胞营养不良 (RCD)，也称为视网膜色素变性，是一种导致视力丧失的遗传性疾病，影响 1/3500 人。已知超过 270 种基因与遗传性视网膜变性 (IRD) 相关，尽管测序技术取得了进步，但仍有约 30% 的 IRD 患者的基因诊断难以实现。本研究的目的是确定杆锥营养不良 (RCD) 家族的遗传因果关系。家庭成员在 MEE 的视网膜服务处接受了全面的眼科检查，并同意进行基因检测。进行了全外显子组测序 (WES)，感兴趣的变体经过 Sanger 验证。在斑马鱼中进行功能测定以及在相关细胞系中进行剪接测定，以确定对视网膜功能的影响。