Ophthalmic Surgery, Lasers and Imaging Retina

Case Report 

Detection of Occult Arteriovenous Malformation With Annular Array Ultrasonography

Gerardo Ledesma-Gil, MD; Juliet Essilfie, MD; K. Bailey Freund, MD; Lawrence. A Yannuzzi, MD; Yale L. Fisher, MD

Abstract

Retinal vascular tortuosity may occur in a wide range of ocular disorders. When retinal vascular tortuosity involves both arteries and veins, and presents unilaterally and without hemorrhage, a diagnosis of Wyburn Mason syndrome (WMS) should be considered due to the potential morbidity and mortality associated with cerebral involvement. Magnetic resonance imaging (MRI) and MRI angiography (MRA) are important tools for identifying cerebral arteriovenous malformations (AVMs), but these imaging modalities have limited spatial resolution to detect very small vascular lesions. Annular array contact ocular ultrasound is a new imaging modality capable of detecting small intraorbital AVMs.

[Ophthalmic Surg Lasers Imaging Retina. 2020;51:239–243.]

Abstract

Retinal vascular tortuosity may occur in a wide range of ocular disorders. When retinal vascular tortuosity involves both arteries and veins, and presents unilaterally and without hemorrhage, a diagnosis of Wyburn Mason syndrome (WMS) should be considered due to the potential morbidity and mortality associated with cerebral involvement. Magnetic resonance imaging (MRI) and MRI angiography (MRA) are important tools for identifying cerebral arteriovenous malformations (AVMs), but these imaging modalities have limited spatial resolution to detect very small vascular lesions. Annular array contact ocular ultrasound is a new imaging modality capable of detecting small intraorbital AVMs.

[Ophthalmic Surg Lasers Imaging Retina. 2020;51:239–243.]

Introduction

Wyburn-Mason syndrome (WMS) is a rare nonhereditary disorder that involves both neural and cutaneous tissue. The etiology of WMS is unknown. The syndrome classically presents at birth as arteriovenous malformations (AVMs) that may involve the brain, facial structures, eye, and orbit in a unilateral fashion, although bilateral disease has also been reported.1 Due to a lack of capillary connections between arteries and veins, the involved vessels may appear as a tangled network of dilated vasculature. Patients lack symptoms or present with decreased vision, hemiparesis, or seizures depending on the size and location of the AVMs.2 Management of the WMS depends on the location and severity of the AVMs. Due to the potential morbidity and mortality related to associated CNS hemorrhage, accurate diagnosis of the syndrome is clinically important. Herein, we present a patient with reduced vision in one eye secondary to an occult AVM detected utilizing a new annular array contact ultrasound device.

Case Report

A 32-year-old man presented for evaluation of fluctuating vision in his right eye (OD) over the prior 5 years. Past medical and family history were unremarkable. There was no other relevant ocular history. On examination, best-corrected visual acuity was 20/25 in the right eye and 20/20 in the left eye (OS). The anterior segments were normal in both eyes (OU). Confocal true color montage fundus photography (EIDON AF; CenterVue, Fremont, CA) OD demonstrated diffuse vascular tortuosity involving both arterial and venous systems with sclerotic vessels in the temporal periphery (Figure 1). The posterior segment OS appeared normal. Ultra-widefield multicolor and fundus autofluorescence (FAF) images (California; Optos, Dunfermline, United Kingdom) OU enabled visualization of the more peripheral vascular changes OD and a comparison of the vasculature between both eyes (Figure 2). Ultra-widefield fluorescein angiography demonstrated scattered microaneurysms, peripheral capillary telangiectasia and nonperfusion, and macular leakage (Figure 3). Spectral-domain optical coherence tomography (OCT) (Spectralis OCT; Heidelberg Engineering, Heidelberg, Germany) showed cystoid macular edema with subfoveal subretinal fluid (Figure 4). Color, depth-encoded, 15 mm × 9 mm OCT angiography montage (PLEX Elite 9000; Carl Zeiss Meditec, Dublin, CA) showed no major capillary plexus abnormalities (Figure 5). The suspicion of an orbital or cerebral AVM was discussed with the patient. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) did not detect any clinically significant vascular abnormalities; however, an occult AVM was still suspected, and the patient was maintained under observation. On subsequent visit, a sonogram utilizing an annular array contact ultrasound (Eye Prime; Ellex, Adelaide, Australia) was performed by one of the authors (YLF). The vertical posterior 18 MHz annular array B-scan of the anterior orbit above the right optic nerve showed pulsatile movement of the orbital fat coinciding with the cardiac cycle (See Supplemental Video below). By comparison, the study of left eye showed just trace movement in the same location (Supplemental Video).

Confocal true color montage fundus photography of the right eye shows generalized vascular tortuosity.

Figure 1.

Confocal true color montage fundus photography of the right eye shows generalized vascular tortuosity.

Ultra-widefield multicolor (A, B) and fundus autofluorescence (FAF) images (C, D) of both eyes. Due to improved contrast, FAF shows better the vascular change in the right eye.

Figure 2.

Ultra-widefield multicolor (A, B) and fundus autofluorescence (FAF) images (C, D) of both eyes. Due to improved contrast, FAF shows better the vascular change in the right eye.

Ultra-widefield fluorescein angiography demonstrates scattered microaneurysms, peripheral capillary telangiectasia and nonperfusion, and macular leakage.

Figure 3.

Ultra-widefield fluorescein angiography demonstrates scattered microaneurysms, peripheral capillary telangiectasia and nonperfusion, and macular leakage.

Paired near infrared reflectance image (A) and optical coherence tomography B-scan (B). The latter shows cystoid macular edema with subfoveal subretinal fluid. These changes account for the mild visual disturbances experience by the patient.

Figure 4.

Paired near infrared reflectance image (A) and optical coherence tomography B-scan (B). The latter shows cystoid macular edema with subfoveal subretinal fluid. These changes account for the mild visual disturbances experience by the patient.

Color depth-encoded optical coherence tomography angiography montage shows no capillary plexus abnormalities.

Figure 5.

Color depth-encoded optical coherence tomography angiography montage shows no capillary plexus abnormalities.

Discussion

As retinal vascular tortuosity can be a sign of systemic disease, it is important to investigate its potential causes. In the setting of unilateral AVMs, the diagnosis of WMS should be considered. WMS is a rare, nonhereditary congenital vascular disorder whereby a focal lack of capillaries permits direct communication of arterial and venous vasculature.3 The disorder can affect the brain, retina, optic pathways, and the skin.3,4,5 The main intraocular manifestation is the presence of arteriovenous dilation and tortuosity,6 which may subsequently lead to vascular occlusions, serous retinal detachments, cystoid macular edema, peripheral ischemia, neovascularization, and choroidal infarction.5,7,8 When present, associated brain AVMs occur in most patients on the same side as the ocular malformation, and this can be seen even in the setting of relatively mild alterations of the retinal vessels.9 Neuroradiological evaluation of the brain to identify AVMs is important since these lesions may produce life-threatening intracranial hemorrhages.

Despite an unremarkable brain MRI/MRA, the degree of retinal vascular tortuosity in our patient, and the unilateral presentation raised a high clinical suspicion of WMS. The possibility of a cerebral or intraorbital AVM too small to be detected by the particular MRI/MRA performed was considered. Using an annular array contact ultrasound with an 18 MHz transducer we identified pulsatile changes just superior to the right optic nerve in the involved orbit. Similar changes were not present in the left orbit (Supplementary Video). These findings confirmed or raised further suspicion of an AVM. Annular array ultrasound has been used for many years in general ultrasonography and has more recently become available to the ophthalmic community. Annular array involves the use of multiple transducer elements that permits movement of the narrowly focused ultrasound beam to areas of interest, which in this case was the anterior orbit. Given that our patient did not have any other known systemic disease we gave the presumed diagnosis of occult arteriovenous malformation of the orbit: a variant of WMS. Treatment of the cystoid macular edema was discussed with the patient, but observant management was elected due to the relatively stable visual acuity and the patient's desire for a conservative approach.

References

  1. Patel U, Gupta SC. Wyburn-Mason syndrome. A case report and review of the literature. Neuroradiology. 1990;31(6):544–546. doi:10.1007/BF00340139 [CrossRef] PMID:2191247
  2. Schmidt D, Pache M, Schumacher M. The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. Surv Ophthalmol. 2008;53(3):227–249. doi:10.1016/j.survophthal.2007.10.001 [CrossRef] PMID:18501269
  3. Wyburn-Mason R. Arteriovenous aneurysm of midbrain and retina, facial naevi, and mental changes. Brain. 1943;66(3):163–203. doi:10.1093/brain/66.3.163 [CrossRef]
  4. Zeng Y, Fan YC, Liu Y, Wan L. Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome. J Pediatr Ophthalmol Strabismus. 2016;53 Online:e15–e17. PMID:27112169
  5. Mansour AM, Wells CG, Jampol LM, Kalina RE. Ocular complications of arteriovenous communications of the retina. Arch Ophthalmol. 1989;107(2):232–236. doi:10.1001/archopht.1989.01070010238029 [CrossRef] PMID:2644928
  6. Onder HI, Alisan S, Tunc M. Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome. Semin Ophthalmol. 2015;30(2):154–156. doi:10.3109/08820538.2013.835832 [CrossRef] PMID:24171831
  7. Rao P, Thomas BJ, Yonekawa Y, Robinson J, Capone A Jr, . Peripheral Retinal Ischemia, Neovascularization, and Choroidal Infarction in Wyburn-Mason Syndrome. JAMA Ophthalmol. 2015;133(7):852–854. doi:10.1001/jamaophthalmol.2015.0716 [CrossRef] PMID:25906291
  8. Gass JDM. Differential Diagnosis of Intraocular Tumors. A Stereoscopic Presentation. St Louis, MO: CV Mosby; 1974.
Authors

From Vitreous Retina Macula Consultants of New York, New York (GLG, JE, KBF, LAY, YLF); the Department of Ophthalmology, Manhattan Eye, Ear and Throat Hospital, New York, New York (JE, KBF); the Department of Ophthalmology, New York University School of Medicine, New York, New York (JE, KBF); The LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear and Throat Hospital, New York, New York (LAY); the Department of Ophthalmology, Weill Cornell Medical Center, New York, New York (YLF); and the Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida (YLF).

Supported by The Macula Foundation, New York, NY.

Dr. Freund is a consultant to Genentech, Allergan, Optovue, Zeiss, Bayer, Heidelberg Engineering, and Novartis and receives research funding from Genentech/Roche. The remaining authors report no relevant financial disclosures.

Address correspondence to Yale L. Fisher, MD, Vitreous Retina Macula Consultants of New York, 950 3rd Avenue, New York, NY 10022; email: yfisher42@aol.com.

Received: December 30, 2019
Accepted: March 06, 2020

10.3928/23258160-20200326-06

Sign up to receive

Journal E-contents