The Association of Venous Malformations of Retina and Brain

Abstract

Purpose : To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessels and describe the systemic associations. Congenital retinal macrovessels is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain.

Methods : Patients with congenital retinal macrovessels, defined as an abnormal, large, macular vessel with a vascular distribution above and below the horizontal raphe, were included in this retrospective, cross-sectional study. The study is based on a multicenter chart review from 7 different retina clinics worlwide over a 10-year period (2007-2017). The main outcome measure was to collect and study the clinical information and multimodal retinal imaging findings. Pertinent systemic information, including MRI findings of the brain, was also noted if available.

Results : A total of 49 eyes from 49 patients (mean ageat onset 44±20.9 years) were included in this study. Macrovessel was unilateral in 100% of cases. Color fundus photography illustrated a large aberrant dilated and tortous retinal vein in 100% of patients (45/45). Early phase frames of fluorescein angiography further confirmed the venous nature of the macrovessels in 40 of 40 eyes. OCTA, available in 17 eyes (34.7%), displayed microvascular capillary abnormalities around the CRM, which were more evident in the deep capillary plexus. Of the 49 cases of CRM, 39 (79.6%) did not illustrate any evidence of ophthalmic complications. Ten patients (20.4%) presented with retinal complications, typically an incidental association with CRM. Twelve patients (24.5%) were noted to have venous malformations of the brain with associated MRI. Location of the venous anomaly in the brain was ipsilateral to the CRM in 10 patients (83.3%) and controlateral in 2 patients (16.6%), mainly located in the frontal love (75%).

Conclusions : Our study has identified an association between macrovessels in the retina and venous anomalies of the brain (24.5% compared to 0.15-6% in the normal population). Thus, we recommend new guidelines for the systemic work-up of patients with CRM to include brain MRI with contrast. These lesions may be more accurately referred to as Retinal Venous Malformations which may raise awareness regarding potential cerebral associations.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.