Abstract：
In this study, we investigated medically or surgically actionable genes in inherited eye disease, based on clinical phenotype and genomic data. This retrospective consecutive case series included 149 patients with inherited eye diseases, seen by a single pediatric ophthalmologist, who underwent genetic testing between 1 March 2017 and 28 February 2018. Variants were detected using a target enrichment panel of 429 genes and known deep intronic variants associated with inherited eye disease. Among 149 patients, 38 (25.5%) had a family history, and this cohort includes heterogeneous phenotype including anterior segment dysgenesis, congenital cataract, infantile nystagmus syndrome, optic atrophy, and retinal dystrophy. Overall, 90 patients (60.4%) received a definite molecular diagnosis. Overall, NGS-guided precision care was provided to 8 patients (5.4%). The precision care included cryotherapy to prevent retinal detachment in COL2A1 Stickler syndrome, osteoporosis management in patients with LRP5-associated familial exudative vitreoretinopathy, and avoidance of unnecessary phlebotomy in hyperferritinemia-cataract syndrome. A revision of the initial clinical diagnosis was made in 22 patients (14.8%). Unexpected multi-gene deletions and dual diagnosis were noted in 4 patients (2.7%). We found that precision medical or surgical managements were provided for 8 of 149 patients (5.4%), and multiple locus variants were found in 2.7% of cases. These findings are important because individualized management of inherited eye diseases can be achieved through genetic testing.
摘要：
在这项研究中,我们研究了遗传性眼病的医学或手术可操作的基因，基于临床表型和基因组数据。这个回顾性的连续病例系列包括149例遗传性眼病患者，由一位儿科眼科医生看到，在2017年3月1日至2018年2月28日期间接受基因检测.使用429个基因的靶富集组和与遗传性眼病相关的已知深内含子变体检测变体。在149名患者中，38人（25.5%）有家族史，这个队列包括异质性表型，包括前节发育不全，先天性白内障,婴儿眼球震颤综合征,视神经萎缩,和视网膜营养不良.总的来说,90例（60.4%）患者接受了明确的分子诊断。总的来说,为8名患者（5.4%）提供了NGS指导的精准护理。精准护理包括冷冻治疗以防止COL2A1Stickler综合征的视网膜脱离，LRP5相关家族性渗出性玻璃体视网膜病变患者的骨质疏松症管理，在高铁蛋白血症-白内障综合征中避免不必要的静脉切开术。对22例患者（14.8％）的初始临床诊断进行了修订。在4例患者中发现了意外的多基因缺失和双重诊断（2.7％）。我们发现，为149名患者中的8名（5.4%）提供了精准医疗或手术管理，在2.7%的病例中发现了多个基因座变异。这些发现很重要，因为遗传性眼病的个体化管理可以通过基因检测来实现。
