Abstract：
UNASSIGNED: Familial Exudative Vitreoretinopathy (FEVR) is a heritable retinal vascular disease characterized by incomplete vascularization of the peripheral retina resulting in ischemia. Fifty percent of FEVR cases 10 are due to known pathogenic genetic variants, and disease phenotype can vary greatly. FEVR is a clinical diagnosis, however, genetic testing can play a key role in screening for FEVR in genetically susceptible populations, thus leading to early treatment and improved patient outcomes.
UNASSIGNED: A 2-year-old male with no known past ocular or medical history was diagnosed with FEVR upon examination under anesthesia and multimodal retinal imaging. Genetic testing identified a Jagged 1 (JAG1) variant of uncertain significance, 15 which has been linked to FEVR in recent studies. Despite close follow-up and treatment, the patient experienced a funnel retinal detachment in the right eye approximately one year after diagnosis.
UNASSIGNED: This case in conjunction with recent literature suggests that JAG1 variants are likely associated with FEVR. Further investigations are necessary to identify the frequency of JAG1 variants among patients with FEVR. Robust understanding of FEVR\'s heterogenous genetic profile will lead to improved treatment modalities 20 and patient outcomes.
UNASSIGNED: A 2-year-old male with no known past ocular or medical history was diagnosed with FEVR upon examination under anesthesia and multimodal retinal imaging. Genetic testing identified a Jagged 1 (JAG1) variant of uncertain significance, 15 which has been linked to FEVR in recent studies. Despite close follow-up and treatment, the patient experienced a funnel retinal detachment in the right eye approximately one year after diagnosis.
UNASSIGNED: This case in conjunction with recent literature suggests that JAG1 variants are likely associated with FEVR. Further investigations are necessary to identify the frequency of JAG1 variants among patients with FEVR. Robust understanding of FEVR\'s heterogenous genetic profile will lead to improved treatment modalities 20 and patient outcomes.
摘要：
家族性渗出性玻璃体视网膜病变(FEVR)是一种遗传性视网膜血管疾病,其特征在于周边视网膜的不完全血管化导致缺血。百分之五十的FEVR病例10是由于已知的致病性遗传变异，和疾病表型可以有很大差异。FEVR是一种临床诊断，然而,基因检测在遗传易感人群的FEVR筛查中可以发挥关键作用，从而导致早期治疗和改善患者预后。
■一名2岁男性，没有已知的既往眼部或病史，在麻醉和多模式视网膜成像检查后被诊断为FEVR。基因检测发现了一个意义不确定的锯齿状1（JAG1）变体，15，在最近的研究中与FEVR有关。尽管密切随访和治疗，患者在诊断后约1年出现右眼漏斗型视网膜脱离.
■这种情况结合最近的文献表明JAG1变体可能与FEVR相关。需要进一步的研究来确定FEVR患者中JAG1变异的频率。对FEVR的异质性遗传特征的深刻理解将导致改进的治疗方式20和患者结果。
■一名2岁男性，没有已知的既往眼部或病史，在麻醉和多模式视网膜成像检查后被诊断为FEVR。基因检测发现了一个意义不确定的锯齿状1（JAG1）变体，15，在最近的研究中与FEVR有关。尽管密切随访和治疗，患者在诊断后约1年出现右眼漏斗型视网膜脱离.
■这种情况结合最近的文献表明JAG1变体可能与FEVR相关。需要进一步的研究来确定FEVR患者中JAG1变异的频率。对FEVR的异质性遗传特征的深刻理解将导致改进的治疗方式20和患者结果。
