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Abstract：
This retrospective study examines the clinical characteristics and underlying genetic variants that exist in a Leber congenital amaurosis (LCA) patient cohort evaluated at the inherited retinal disease (IRD) clinic at the University of Minnesota (UMN)/M Health System. Our LCA cohort consisted of 33 non-syndromic patients and one patient with Joubert syndrome. We report their relevant history, clinical findings, and genetic testing results. We monitored disease presentation utilizing ocular coherence tomography (OCT) and fundus autofluorescence (FAF). Electroretinogram testing (ERG) was performed in patients when clinically indicated. Next-generation sequencing (NGS) and genetic counseling was offered to all evaluated patients. Advanced photoreceptor loss was noted in 85.7% of the subjects. All patients who underwent FAF had findings of either a ring of macular hypo/hyper AF or peripheral hypo-AF. All patients had abnormal ERG findings. A diagnostic genetic test result was identified in 74.2% of the patients via NGS single-gene testing or panel testing. Two patients in our cohort qualified for Luxturna® and both received treatment at the time of this study. These data will help IRD specialists to understand the genetic variants and clinical presentations that characterize our patient population in the Midwest region of the United States.
摘要：
这项回顾性研究检查了在明尼苏达大学（UMN）/M卫生系统的遗传性视网膜疾病（IRD）诊所评估的Leber先天性黑蒙（LCA）患者队列中存在的临床特征和潜在遗传变异。我们的LCA队列包括33例非综合征患者和1例Joubert综合征患者。我们报告他们的相关历史，临床发现，和基因检测结果。我们使用眼相干断层扫描（OCT）和眼底自发荧光（FAF）监测疾病表现。在有临床指征时，对患者进行视网膜电图测试（ERG）。为所有评估的患者提供了下一代测序（NGS）和遗传咨询。在85.7%的受试者中注意到晚期光感受器损失。所有接受FAF的患者均发现黄斑低/高AF环或外周低AF环。所有患者均有异常的ERG表现。通过NGS单基因测试或小组测试，在74.2％的患者中确定了诊断性基因测试结果。我们队列中的两名患者符合Luxturna®的资格，并且在本研究时都接受了治疗。这些数据将帮助IRD专家了解美国中西部地区患者人群的遗传变异和临床表现。
