Nagiel Aaron, Lalane Robert A, Jen Joanna C, Kreiger Allan E
Retina Division, Stein Eye Institute, University of California Los Angeles, Los Angeles, California.
Department of Ophthalmology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Retin Cases Brief Rep. 2018;12 Suppl 1:S87-S91. doi: 10.1097/ICB.0000000000000641.
The aim of this study was to investigate the presenting sign of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, a rare autosomal dominant condition caused by mutations in the TREX1 gene, and to explore the potential efficacy of bevacizumab in preventing capillary occlusions.
Observational case report with the use of ultra-widefield fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography.
A 31-year-old man with a family history of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations presented with a scotoma in his left eye. The visual acuity was 20/20 in both eyes, and his examination was notable for scattered cotton wool spots in the retina of both eyes as well as an area of paracentral acute middle maculopathy in the left eye. Ultra-widefield fluorescein angiography revealed peripheral capillary nonperfusion and vascular leakage corresponding to the cotton wool spots. Spectral domain optical coherence tomography and optical coherence tomography angiography confirmed the presence and distribution of superficial capillary plexus and deep capillary plexus ischemia. Neurologic examination and imaging were normal. A trial of monthly intravitreal bevacizumab injections to the left eye over 6 months resulted in diminished capillary leakage.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is a rare genetic condition manifested most commonly by cerebral and retinal ischemia. This retinal vasculopathy leads to occlusions of small-caliber retinal vessels in the superficial plexus and deep plexus with resulting cotton wool spots and paracentral acute middle maculopathy, respectively. Recognition of the retinal findings by ophthalmologists and neurologists may avoid unnecessary brain biopsies in diagnosing this rare disorder.
本研究旨在调查伴有脑白质脑病和全身表现的视网膜血管病变的临床表现，这是一种由TREX1基因突变引起的罕见常染色体显性疾病，并探索贝伐单抗在预防毛细血管闭塞方面的潜在疗效。
采用超广角荧光素血管造影、光学相干断层扫描和光学相干断层扫描血管造影的观察性病例报告。
一名31岁男性，有伴有脑白质脑病和全身表现的视网膜血管病变家族史，左眼出现暗点。双眼视力均为20/20，检查发现双眼视网膜有散在的棉絮斑，左眼有旁中心急性黄斑中层病变区域。超广角荧光素血管造影显示与棉絮斑对应的周边毛细血管无灌注和血管渗漏。光谱域光学相干断层扫描和光学相干断层扫描血管造影证实了浅表毛细血管丛和深部毛细血管丛缺血的存在和分布。神经学检查和影像学检查均正常。对左眼每月进行一次玻璃体内注射贝伐单抗，持续6个月，结果毛细血管渗漏减少。
伴有脑白质脑病和全身表现的视网膜血管病变是一种罕见的遗传疾病，最常见的表现是脑和视网膜缺血。这种视网膜血管病变分别导致浅表丛和深部丛中小口径视网膜血管闭塞，从而产生棉絮斑和旁中心急性黄斑中层病变。眼科医生和神经科医生认识到视网膜病变表现，可能会避免在诊断这种罕见疾病时进行不必要的脑活检。
