Francesco Pichi1,2, K Bailey Freund3, Antonio Ciardella4, Mariachiara Morara4, Emad B Abboud1, Nicola Ghazi1, Christine Dackiw1, Netan Choudhry5,6,7, Eduardo Cunha Souza8,9, Leonardo Provetti Cunha10,11, J Fernando Arevalo12, T Y Alvin Liu12, Adam Wenick12, Lingmin He12, Guadalupe Villarreal12, Piergiorgio Neri13, David Sarraf14,15. 1. Cleveland Clinic Abu Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates. 2. Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio. 3. Vitreous Retina Macula Consultants of New York, New York. 4. Ophthalmology Unit, Sant'Orsola-Malpighi Polyclinic, Bologna, Italy. 5. Vitreous Retina Macula Specialists of Toronto, Toronto, Ontario, Canada. 6. Cleveland Clinic Canada, Toronto, Ontario, Canada. 7. Department of Ophthalmology and Visual Sciences, University of Toronto, Toronto, Ontario, Canada. 8. Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto, São Paulo, Brazil. 9. University of São Paulo, São Paulo, São Paulo, Brazil. 10. Department of Ophthalmology, School of Medicine, Federal University of Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil. 11. University of São Paulo Medical School, São Paulo, São Paulo, Brazil. 12. Retina Division, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland. 13. The Ocular Immunology Service, The Eye Clinic, Polytechnic University of Marche, Ancona, Italy. 14. Stein Eye Institute, University of California, Los Angeles. 15. Greater Los Angeles VA Healthcare Center, Los Angeles, California.
Abstract
Importance: Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain. Objective: 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. Main Outcomes and Measures: 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. Results: 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%). Conclusions and Relevance: 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.
Importance: Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain. Objective: 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. Main Outcomes and Measures: 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. Results: 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%). Conclusions and Relevance: 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.
Authors: Dov B Sebrow; Eduardo Cunha de Souza; José Belúcio Neto; Marina Roizenblatt; Claudio Zett Lobos; Pedro Paulo Bonomo; Yasha Modi; Joel S Schuman; K Bailey Freund Journal: Retin Cases Brief Rep Date: 2020
Authors: Rachel E Linderman; Jenna A Cava; Alexander E Salmon; Toco Y Chui; Alan D Marmorstein; Brandon J Lujan; Richard B Rosen; Joseph Carroll Journal: Ophthalmol Retina Date: 2019-11-22
Authors: Jared S Rosenblum; Herui Wang; Pauline M Dmitriev; Anthony J Cappadona; Panagiotis Mastorakos; Chen Xu; Abhishek Jha; Nancy Edwards; Danielle R Donahue; Jeeva Munasinghe; Matthew A Nazari; Russell H Knutsen; Bruce R Rosenblum; James G Smirniotopoulos; Alberto Pappo; Robert F Spetzler; Alexander Vortmeyer; Mark R Gilbert; Dorian B McGavern; Emily Chew; Beth A Kozel; John D Heiss; Zhengping Zhuang; Karel Pacak Journal: JCI Insight Date: 2021-03-08