Pichi Francesco, Freund K Bailey, Ciardella Antonio, Morara Mariachiara, Abboud Emad B, Ghazi Nicola, Dackiw Christine, Choudhry Netan, Souza Eduardo Cunha, Cunha Leonardo Provetti, Arevalo J Fernando, Liu T Y Alvin, Wenick Adam, He Lingmin, Villarreal Guadalupe, Neri Piergiorgio, Sarraf David
Cleveland Clinic Abu Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates.
Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio.
JAMA Ophthalmol. 2018 Apr 1;136(4):372-379. doi: 10.1001/jamaophthalmol.2018.0150.
Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain.
To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations.
DESIGN, SETTING, AND PARTICIPANTS: In this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007-2017). Patients with CRM, defined as an abnormal, large, macular vessel with a vascular distribution above and below the horizontal raphe, were identified. Data were analyzed from December 2016 to August 2017.
Clinical information and multimodal retinal imaging findings were collected and studied. Pertinent systemic information, including brain magnetic resonance imaging findings, was also noted if available.
Of the 49 included patients, 32 (65%) were female, and the mean (SD) age at onset was 44.0 (20.9) years. A total of 49 eyes from 49 patients were studied. Macrovessel was unilateral in all patients. Color fundus photography illustrated a large aberrant dilated and tortuous retinal vein in all patients. Early-phase frames of fluorescein angiography further confirmed the venous nature of the macrovessel in 40 of 40 eyes. Optical coherence tomography angiography, available in 17 eyes (35%), displayed microvascular capillary abnormalities around the CRM, which were more evident in the deep capillary plexus. Of the 49 patients with CRM, 39 (80%) did not illustrate any evidence of ophthalmic complications. Ten patients (20%) presented with retinal complications, typically an incidental association with CRM. Twelve patients (24%) were noted to have venous malformations of the brain with associated magnetic resonance imaging. Of these, location of the venous anomaly in the brain was ipsilateral to the CRM in 10 patients (83%) and contralateral in 2 patients (17%), mainly located in the frontal lobe in 9 patients (75%).
Our study has identified an association between macrovessels in the retina and venous anomalies of the brain (24% compared with 0.2% to 6.0% in the normal population). Thus, we recommend new guidelines for the systemic workup of patients with CRM to include brain magnetic resonance imaging with contrast. These lesions may be more accurately referred to as retinal venous malformations, which may raise awareness regarding potential cerebral associations.
先天性视网膜大血管（CRM）是一种罕见报道的视网膜静脉畸形，与脑部静脉异常有关。
研究一系列先天性视网膜大血管患者的多模态影像学表现，并描述其全身相关性。
设计、地点和参与者：在这项横断面多中心研究中，回顾性分析了全球7个不同视网膜诊所10年期间（2007 - 2017年）的病历。确定患有CRM的患者，定义为水平缝上下有异常粗大黄斑血管且血管分布异常。2016年12月至2017年8月进行数据分析。
收集并研究临床信息和视网膜多模态影像学表现。如有相关全身信息，包括脑部磁共振成像结果，也予以记录。
49例纳入患者中，32例（65%）为女性，发病时的平均（标准差）年龄为44.0（20.9）岁。共研究了49例患者的49只眼。所有患者的大血管均为单侧。彩色眼底照相显示所有患者均有一条粗大异常扩张且迂曲的视网膜静脉。荧光素血管造影早期图像进一步证实40只眼中40只的大血管为静脉性质。17只眼（35%）进行了光学相干断层扫描血管造影，显示CRM周围微血管毛细血管异常，在深层毛细血管丛中更明显。49例CRM患者中，39例（80%）未显示任何眼科并发症迹象。10例患者（20%）出现视网膜并发症，通常与CRM偶然相关。12例患者（24%）经磁共振成像检查发现有脑部静脉畸形。其中，10例患者（83%）脑部静脉异常位置与CRM同侧，2例患者（17%）为对侧，主要位于额叶的有9例患者（75%）。
我们的研究发现视网膜大血管与脑部静脉异常之间存在关联（24%，而正常人群中为0.2%至6.0%）。因此，我们建议对CRM患者进行全身检查的新指南应包括增强脑部磁共振成像。这些病变可能更准确地称为视网膜静脉畸形，这可能提高对潜在脑部相关性的认识。
