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Abstract：
Background Von Hippel-Lindau (VHL) disease is an autosomal dominant multisystem disorder caused by germline mutations at chromosome 3p25-26 in the VHLtumour suppressor gene. Retinal manifestations include capillary haemangiomas that develop in up to 80% of gene carriers. Lifelong retinal surveillance involves yearly assessment usually by fundoscopy and often as part of a VHL multidisciplinary clinic. Optos ultra-widefield retinal imaging is now becoming more widely used in virtual retinal screening clinics. We aimed to assess discrepancies in the pickup rate of angioma and angiomatous-associated disease between slit-lamp fundoscopy and Optos ultra-widefield imaging. Methodology A total of 49 patients had both Optos ultra-widefield retinal imaging and slit-lamp fundoscopy over 16 months in VHL retinal surveillance clinics at the John Radcliffe Hospital, Oxford, UK. Optos images were analysed for image quality and presence of angioma(s) by a Consultant Ophthalmologist who was masked to the fundoscopy findings. The pickup rate was compared between slit-lamp fundoscopy and Optos imaging. Results In total, data on 94 eyes were collected. Of the total Optos retinal images, 12.8% were positive for angiomas compared to 11.7% from the slit-lamp examination. There was a discrepancy of 1.1% (one value) where the Optos image analysis suggested a possible angioma, which was not identified on slit-lamp examination. Optos imaging identified all angiomas in this cohort. Conclusions Optos imaging was non-inferior to slit-lamp examination in this sample of 94 eyes. In the current COVID-19 climate, reducing clinician-patient interaction is important. This research supports providing retinal imaging as an acceptable alternative to the yearly slit-lamp fundus examination.
摘要：
背景：VonHippel-Lindau（VHL）疾病是一种常染色体显性遗传多系统疾病，由VHLtumour抑制基因3p25-26号染色体上的种系突变引起。视网膜表现包括毛细血管血管瘤，在多达80％的基因携带者中发展。终身视网膜监测通常通过眼底镜检查进行年度评估，并且通常作为VHL多学科诊所的一部分。Optos超宽视野视网膜成像现在越来越广泛地用于虚拟视网膜筛查诊所。我们旨在评估裂隙灯眼底镜检查和Optos超宽视野成像之间血管瘤和血管瘤相关疾病的拾取率差异。方法在JohnRadcliffe医院的VHL视网膜监测诊所中，共有49例患者在16个月内进行了Optos超宽视野视网膜成像和裂隙灯眼底镜检查，牛津,英国。Optos图像由顾问眼科医生分析图像质量和血管瘤的存在，该顾问眼科医生掩盖了眼底镜检查结果。比较了裂隙灯眼底镜检查和Optos成像之间的拾取率。结果总计,收集了94只眼的数据。在所有的Optos视网膜图像中，12.8％的血管瘤阳性，而裂隙灯检查为11.7％。Optos图像分析显示可能的血管瘤存在1.1％（一个值）的差异，在裂隙灯检查中没有发现。Optos成像确定了该队列中的所有血管瘤。结论在94只眼的样本中，Optos成像不劣于裂隙灯检查。在目前的COVID-19气候下，减少临床医生与患者的互动非常重要。这项研究支持提供视网膜成像作为每年裂隙灯眼底检查的可接受替代方案。
