Congenital retinal macrovessel with intracranial venous malformation in a pediatric patient: a case report

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. 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.

Purpose Congenital retinal macrovessels (CRM) represent rare aberrant vasculature of the retinal vessels that can supply or drain the macula. In this report, the optical coherence tomography angiography features of a congenital retinal macrovessel are discussed. Methods The history and examination findings are presented alongside swept-source OCT angiography with corresponding B scan and en face OCT imaging. Patients The case is a 12-year-old female patient with excellent best-corrected visual acuity in both eyes. Results Swept-source OCT angiography demonstrated considerable loss of the foveal avascular zone at the levels of the superficial and deep capillary plexus. Discussion In this case there was no detrimental effect on vision despite anatomical loss of the foveal avascular zone.

Acute macular neuroretinopathy after Covid 19 in an eye with a congenital retinal macrovessel - a case report.

To report a case of congenital retinal macrovessel associated with cystoid macular edema and an ipsilateral intracranial venous malformation. Case report. A 58-year-old woman with decreased vision was found to have a congenital retinal venous macrovessel associated with cystoid macular edema because of tributary venous occlusion. The patient underwent neuroimaging and an ipsilateral venous malformation of the frontal lobe was discovered. Congenital retinal macrovessel can occasionally be complicated by vascular occlusion and macular edema. The authors report a case of congenital retinal macrovessel associated with an intracranial venous malformation. Clinicians should be aware of this potential association, and further studies are warranted.

To describe a case of unilateral congenital retinal macrovessel with a retinal cavernous hemangioma in a patient with Cowden syndrome (CS). In addition, we summarize previously reported cases of ocular findings in CS in the literature. Observational case report and literature review. A 45-year-old White female patient with Cowden syndrome presented for routine ocular examination. She had a history of thyroid carcinoma, fallopian paratubal cyst, chromophobe-type renal cell carcinoma, multiple benign skin lesions, and macrocephaly. At presentation, she was asymptomatic with good vision. On dilated fundus examination, the right eye revealed a congenital retinal macrovessel and retinal cavernous hemangioma. Previously performed genetic testing revealed a pathogenic c.46dupT mutation in the PTEN gene, which was consistent with CS. Our patient had a history of multiple malignancies and hamartomas consistent with her genetic diagnosis of CS. We incidentally discovered a congenital retinal macrovessel with a retinal cavernous hemangioma. Patients with CS should be referred for interdisciplinary evaluation, including routine ocular examinations.

HomeCirculationVol. 126, No. 2Response to Letter Regarding Article, “Spontaneous Resolution of Central Serous Chorioretinopathy in a Patient With Congenital Retinal Macrovessel” Free AccessReplyPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessReplyPDF/EPUBResponse to Letter Regarding Article, “Spontaneous Resolution of Central Serous Chorioretinopathy in a Patient With Congenital Retinal Macrovessel” Francisco J. Ascaso, MD, PhD Francisco J. AscasoFrancisco J. Ascaso Department of Ophthalmology “Lozano Blesa” University Clinic Hospital Aragon Health Sciences Institute Zaragoza, Spain (Ascaso) Search for more papers by this author Originally published10 Jul 2012https://doi.org/10.1161/CIRCULATIONAHA.112.113688Circulation. 2012;126:e25I sincerely thank Lee et al for their interest in our article.1 I also appreciate their words about the value of this case report to provide information regarding the etiologic relationship between central serous chorioretinopathy and congenital retinal macrovessel (CRM). Although they might be right about the origin of the macular edema from an anastomotic site at the CRM, the level of the leakage is not completely clear. Likewise, the spontaneous resolution of the condition in 1 month, the existence of a recent stressful episode, and the elevated 24-hour urine cortisol levels argue in favor of a central serous chorioretinopathy. Unfortunately, I did not have spectral domain optical coherence tomography at the moment the patient was visited. Nevertheless, there is not always a typical serous retinal detachment in the previously described cases of CRM. Thus, the optical coherence tomography findings observed in our case are comparable to those reported by Arai et al,2 which revealed a combination of serous retinal detachment with certain amount of intraretinal fluid in the inner retina. Finally, another case of central serous chorioretinopathy associated with a CRM has already been reported.3 As in Kumar′s case, whether our central serous chorioretinopathy could be caused by CRM or whether these are coincidental findings remains to be determined.Francisco J. Ascaso, MD, PhD Department of Ophthalmology “Lozano Blesa” University Clinic Hospital Aragon Health Sciences Institute Zaragoza, SpainDisclosuresNone.

Congenital retinal macrovessels are large aberrant branches of retinal arteries or veins that cross the macula. We present three patients with a unilateral congenital retinal macrovessel and we conduct a review of the literature. A 22-year-old man complaining of chronic headache as well as two other men, 18 and 23 years old, respectively, during a routine ophthalmological examination, were found with a unilateral congenital retinal macrovessel each. A thorough ophthalmological examination was performed, including colour fundus photography in all three patients and fluorescein angiography in two of the patients. We followed them up for five years. Investigation revealed a unilateral venous congenital retinal macrovessel in all patients. Clinical findings and visual acuity remained unchanged throughout the entire follow-up period. No complications were recorded. Congenital retinal macrovessels are rare and they tend to remain stable. Visual acuity is preserved in most cases. Complications occur only occasionally and have been described in the literature. Differential diagnosis from other arteriovenous malformations affecting multiple organs is necessary.

Decompensation of a congenital retinal macrovessel with arteriovenous communications induced by repetitive rollercoaster rides

Congenital retinal macrovessel is a large aberrant vessel discovered as an incidental finding. These aberrant vessels are mostly single, unilateral veins. CRMs do not affect vision unless there are associated foveolar cysts, foveal ectopia, pigmentary changes at fovea, macular haemorrhage, exudates, serous macular detachment or the macrovessel crosses the fovea. Thorough clinical evaluation and investigations are valuable in diagnosis and follow-up of such cases and aid in timely management of associated complications. In this report, we have discussed a case of CRM with unaffected visual acuity. To the best of our knowledge, such a case of CRM crossing fovea but sparing vision and findings substantiated by Spectral Domain Optical Coherence Tomography (OCT) has not been documented earlier.

Congenital retinal macrovessels (CRMs) are a rare entity.They are usually unilateral, abnormally large, and aberrant vessels. Although the majority of the patients are asymptomatic, CRMs may affect vision if they are associated with pigmentary changes at the macula, foveolar cysts, central serous retinopathy, macular hemorrhage, or if the macrovessel crosses the fovea. Here, we present the case of a young female who came for a routine ophthalmological evaluation. She was asymptomatic, and the macrovessel was an incidental finding. Visual acuity and slit lamp examination were normal, and dilated fundus evaluation was normal except for CRM in the right eye. Optical coherence tomography angiography imaging helped visualize the depth of the vessel and the analysis of the architecture of the foveal avascular zone.

Congenital retinal macrovessel (CRM) is a rare developmental condition in which a large vein, artery, or occasionally an artery and a vein together, cross the macular region. Most often, this aberrant vessel originates from a branch of the inferotemporal vein, with branches crossing the horizontal raphe. CRMs do not affect vision unless there are associated foveolar cysts, foveal ectopia, pigmentary changes at fovea, macular hemorrhage, exudates, serous macular detachment, or the macrovessel crosses the fovea. We present a case of a 13-year-old male patient with congenital macular artery crossing the fovea, associated with macular edema and decreased visual acuity. In this case report, we highlight the fundus fluorescein angiography findings and optical coherence tomography evaluation of the patient.

To the Editor: We read the article by Ascaso entitled, “Spontaneous Resolution of Central Serous Chorioretinopathy in a Patient with Congenital Retinal Macrovessel” published in Volume 124 of Circulation with great interest.1 In our opinion, the images provided in the article do not seem to show what we can see in typical central serous chorioretinopathy (CSCR). In the images provided, the leakage seen on fundus fluorescein angiography definitely appears to be originating from an anastomotic site at the congenital retinal macrovessels (CRMs). The retinal vessels are visible below the leakage point, which …

We report a highly unusual case involving the coexistence of four rare ophthalmic conditions (keratoconus, Salzmann nodular degeneration (SND), congenital ptosis, and congenital retinal macrovessel) in a single patient. A young woman in her late adolescence presented with bilateral progressive vision loss and a history of left upper eyelid drooping since childhood. She was recently diagnosed as being in the early stages of pregnancy. Ocular examination revealed signs consistent with keratoconus, including corneal thinning, conical protrusion, and a scissoring reflex on retinoscopy. Two subepithelial, bluish-gray nodules characteristic of SND were found in the right eye. The patient also demonstrated left-sided congenital ptosis with good levator function and Bell’s phenomenon. Fundus evaluation revealed bilateral optic disc hypoplasia and a congenital retinal macrovessel traversing the fovea in the right eye without associated hemorrhage or cysts.This case highlights the importance of comprehensive ophthalmologic evaluation when encountering atypical presentations. The association between keratoconus and other systemic or ocular disorders has been well-documented; however, simultaneous manifestation with Salzmann nodular degeneration, congenital ptosis, and congenital retinal macrovessel expands the spectrum of possible syndromic presentations.

Congenital retinal macrovessel: An atypical presentation with low vision and macular thickening

Aman in his 20s presented reporting blurry vision in his right eye. Visualacuitywas20/25OD.Fluoresceinangiographyrevealedanonleakingmacular lesionwith late intermixed lobulesof hyperfluorescence and hypofluoresence consistent with a retinal cavernous hemangioma (Figure). Retinal cavernous hemangiomas are typically low-flow lesions and thus not associated with transudation (fluid, lipid), which aids in their differentiation from Coats disease and capillary hemangioblastomas.1 Macular retinal cavernous hemangiomas are rare and they can occasionally be associatedwith vision loss.2,3 Because retinal macrovessels can occur as an asymptomatic finding independent of other retinal vascular abnormalities, one cannot excludewith certainty thepossibility that the retinalmacrovessel is coincident to theretinal cavernoushemangioma.Nevertheless, these images illustrate the possible association of a retinal cavernous hemangioma with a congenital retinal macrovessel, underlining the role of abnormal vascular development in the rise of eachof these lesions.4