Congenital retinal macrovessel and the association of retinal venous malformations with venous malformations of the brain

Francesco Pichi, K. Bailey Freund, Antonio Ciardella, Mariachiara Morara, Emad B. Abboud, Nicola Ghazi, Christine Dackiw, Netan Choudhry, Eduardo Cunha Souza, Leonardo Provetti Cunha, J Fernando Arevalo, Tin Yan Liu, Adam Wenick, Lingmin He, Guadalupe Villarreal, Piergiorgio Neri, David Sarraf

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)372-378
Number of pages7
JournalJAMA Ophthalmology
Volume136
Issue number4
DOIs
StatePublished - Apr 1 2018

Fingerprint

Brain
Multimodal Imaging
Retina
Magnetic Resonance Imaging
Retinal Vein
Fluorescein Angiography
Photography
Optical Coherence Tomography
Frontal Lobe
Age of Onset
Multicenter Studies
Medical Records
Blood Vessels
Angiography
Color
Cross-Sectional Studies
Outcome Assessment (Health Care)
Guidelines
Population

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Congenital retinal macrovessel and the association of retinal venous malformations with venous malformations of the brain. / 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, Tin Yan; Wenick, Adam; He, Lingmin; Villarreal, Guadalupe; Neri, Piergiorgio; Sarraf, David.

In: JAMA Ophthalmology, Vol. 136, No. 4, 01.04.2018, p. 372-378.

Research output: Contribution to journalArticle

Pichi, F, Freund, KB, Ciardella, A, Morara, M, Abboud, EB, Ghazi, N, Dackiw, C, Choudhry, N, Souza, EC, Cunha, LP, Arevalo, JF, Liu, TY, Wenick, A, He, L, Villarreal, G, Neri, P & Sarraf, D 2018, 'Congenital retinal macrovessel and the association of retinal venous malformations with venous malformations of the brain', JAMA Ophthalmology, vol. 136, no. 4, pp. 372-378. https://doi.org/10.1001/jamaophthalmol.2018.0150
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, Tin Yan ; Wenick, Adam ; He, Lingmin ; Villarreal, Guadalupe ; Neri, Piergiorgio ; Sarraf, David. / Congenital retinal macrovessel and the association of retinal venous malformations with venous malformations of the brain. In: JAMA Ophthalmology. 2018 ; Vol. 136, No. 4. pp. 372-378.
@article{988ae9bc44f14bf08f621224b5f30464,
title = "Congenital retinal macrovessel and the association of retinal venous malformations with venous malformations of the brain",
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.",
author = "Francesco Pichi and Freund, {K. Bailey} and Antonio Ciardella and Mariachiara Morara and Abboud, {Emad B.} and Nicola Ghazi and Christine Dackiw and Netan Choudhry and Souza, {Eduardo Cunha} and Cunha, {Leonardo Provetti} and Arevalo, {J Fernando} and Liu, {Tin Yan} and Adam Wenick and Lingmin He and Guadalupe Villarreal and Piergiorgio Neri and David Sarraf",
year = "2018",
month = "4",
day = "1",
doi = "10.1001/jamaophthalmol.2018.0150",
language = "English (US)",
volume = "136",
pages = "372--378",
journal = "JAMA Ophthalmology",
issn = "2168-6165",
publisher = "American Medical Association",
number = "4",

}

TY - JOUR

T1 - Congenital retinal macrovessel and the association of retinal venous malformations with venous malformations of the brain

AU - Pichi, Francesco

AU - Freund, K. Bailey

AU - Ciardella, Antonio

AU - Morara, Mariachiara

AU - Abboud, Emad B.

AU - Ghazi, Nicola

AU - Dackiw, Christine

AU - Choudhry, Netan

AU - Souza, Eduardo Cunha

AU - Cunha, Leonardo Provetti

AU - Arevalo, J Fernando

AU - Liu, Tin Yan

AU - Wenick, Adam

AU - He, Lingmin

AU - Villarreal, Guadalupe

AU - Neri, Piergiorgio

AU - Sarraf, David

PY - 2018/4/1

Y1 - 2018/4/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85045583771&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85045583771&partnerID=8YFLogxK

U2 - 10.1001/jamaophthalmol.2018.0150

DO - 10.1001/jamaophthalmol.2018.0150

M3 - Article

C2 - 29494725

AN - SCOPUS:85045583771

VL - 136

SP - 372

EP - 378

JO - JAMA Ophthalmology

JF - JAMA Ophthalmology

SN - 2168-6165

IS - 4

ER -