State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China.
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China.
Exp Eye Res. 2020 Mar;192:107941. doi: 10.1016/j.exer.2020.107941. Epub 2020 Jan 24.
Familial exudative vitreoretinopathy (FEVR) is a disease exhibits a wide range of clinical signs, ranging mild peripheral retinal vascular anomalies to severe retinal detachments. Individuals with mild FEVR are frequently asymptomatic with good visual function and are often undiagnosed. However, little is known about the genetic characters of the cohort. The purpose of this study was to investigate the clinical characteristics and genetic spectrum of in patients with asymptomatic mild FEVR. Herein, sixty-two patients (124 eyes) with asymptomatic mild FEVR were studied in a case series. Comprehensive ophthalmic examinations and genetic testing were performed in all patients. Clinical examinations showed that the avascular zone was seen in all 124 eyes and was the most common abnormality observed. Increased vessel branching and straightened peripheral vessel branches were found in 122 (98.4%) eyes. Late-phase angiographic posterior and peripheral leakage (LAPPEL) was observed in 80 (64.5%) eyes and V-shape degeneration was noted in 36 (29.0%) eyes. Other manifestations including extensive anastomoses, retinal ridges, and extraretinal neovascularization, which were detected in 30 (24.2%), 10 (8.1%) and 2 (1.6%) eyes respectively. Overall, pathogenic mutations were identified in 48.4% (30/62) of individuals with asymptomatic mild FEVR. Mutations in FZD4, LRP5, TSPAN12, and KIF11 were detected in 21.0% (13/62), 12.9% (8/62), 12.9% (8/62), and 1.6% (1/62) of our patients respectively. Ten novel mutations were found. In conclusion: Pathogenic mutations in the known FEVR-associated genes were detected in nearly half (48.4%) of the asymptomatic mild FEVR cohort. Among these mutations, FZD4 was predominant, appearing in 21.0% of all individuals. Patients with asymptomatic mild FEVR should receive timely examinations, lifelong monitoring, and some of them need preventive therapy and treatment. Additionally, we discovered 10 novel variants, which may enable a deeper understanding of this disease.
家族渗出性玻璃体视网膜病变（FEVR）是一种临床表现多样的疾病，从轻微的周边视网膜血管异常到严重的视网膜脱离均有涉及。轻度 FEVR 患者通常无症状，视力良好，且常常未被诊断。然而，人们对该队列的遗传特征知之甚少。本研究旨在探讨无症状轻度 FEVR 患者的临床特征和遗传谱。在此，我们对 62 名（124 只眼）无症状轻度 FEVR 患者进行了病例系列研究。所有患者均接受了全面的眼科检查和基因检测。临床检查显示，所有 124 只眼中均可见无血管区，这是最常见的异常表现。122 只眼（98.4%）发现血管分支增多和周边血管分支变直。80 只眼（64.5%）观察到晚期相造影后和周边渗漏（LAPPEL），36 只眼（29.0%）发现 V 形变性。其他表现包括广泛吻合、视网膜嵴和视网膜外新生血管，分别在 30 只眼（24.2%）、10 只眼（8.1%）和 2 只眼（1.6%）中发现。总体而言，在无症状轻度 FEVR 患者中，48.4%（30/62）确定了致病性突变。在我们的患者中，发现 FZD4、LRP5、TSPAN12 和 KIF11 的突变分别占 21.0%（13/62）、12.9%（8/62）、12.9%（8/62）和 1.6%（1/62）。发现了 10 种新突变。总之，在无症状轻度 FEVR 队列中，近一半（48.4%）患者检测到已知与 FEVR 相关的基因的致病性突变。在这些突变中，FZD4 占主导地位，出现在所有患者的 21.0%。无症状轻度 FEVR 患者应及时接受检查、终身监测，其中一些患者需要预防性治疗和治疗。此外，我们发现了 10 种新的变异体，这可能有助于更深入地了解这种疾病。
