PDF(Pubmed)
Abstract：
Purpose: We aim to analyze the clinical and genetic features in a Chinese family with congenital retinoschisis by whole-exome sequencing and comprehensive clinical examination. Methods: Six members were recruited from a Chinese family. Three of them were diagnosed as congenital retinoschisis, including two twin siblings. All subjects received a full eye examination. Whole-exome sequencing (WES) and Sanger sequencing were performed on two twin probands and all participants, respectively. Results: A novel splice site mutation RS1.c.53-1G>A was identified in a Chinese congenital retinoschisis family. The mean onset age was 16.7 ± 2.4 years old. The average BCVA in patients was 0.37 ± 0.05. A typical spoke-wheel pattern was observed in all affected eyes. OCT examination results showed fovea schisis and schisis cavities were located in the inner nuclear layer in 100% eyes (6/6). ERG b/a ratio was decreased markedly, but was still more than 1 in the four eyes that were available. Conclusion: The present study discovered a new pathogenic splice cite variant of RS1 in congenital retinoschisis, which expands the mutational spectrum. In contrast to previous research, the phenotype of patients with the same mutation within one family was highly similar. Early molecular testing is crucial for early diagnosis, clinical management, and genetic counseling of patients with congenital retinoschisis.
摘要：
目的：我们旨在通过全外显子组测序和综合临床检查分析中国先天性视网膜裂孔症家庭的临床和遗传特征。方法：从一个中国家庭招募6名成员。其中三人被诊断为先天性视网膜裂,包括两个双胞胎兄弟姐妹.所有受试者都接受了全面的眼睛检查。对两个双先证者和所有参与者进行全外显子组测序（WES）和Sanger测序，分别。结果：一个新的剪接位点突变RS1。c.53-1G>A在中国先天性视网膜劈裂家族中被发现。平均发病年龄为16.7±2.4岁。患者的平均BCVA为0.37±0.05。在所有受影响的眼睛中观察到典型的辐条轮图案。OCT检查结果显示裂孔和裂孔位于100％眼的内核层（6/6）。ERGb/a比值明显降低，但在可用的四只眼睛中仍然超过1只。结论:本研究在先天性视网膜劈裂中发现了一个新的致病性剪接性变异型RS1,扩展了突变谱。与以前的研究相比，一个家族中具有相同突变的患者的表型高度相似.早期分子检测对早期诊断至关重要,临床管理，先天性视网膜裂孔患者的遗传咨询。
