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Case Report

Ultrawide Field Imaging of Progressive Retinal Arteriovenous Malformation in a Pediatric Patient with Wyburn-Mason Syndrome

    Published Online:https://doi.org/10.3928/23258160-20211210-02

    Abstract

    Wyburn-Mason syndrome (WMS) is a rare congenital disease that presents with unilateral arteriovenous malformation (AVM) in the visual pathway, midbrain, and/or skin. We report a case of a 5-year-old girl with a history of cerebral and orbital AVM who presented with left exotropia and was found to have group 3 retinal AVM consistent with WMS. Here, we use ultrawide field imaging to show the progression of retinal AVM and peripheral nonperfusion areas for a period of 1 year in a pediatric patient with WMS.

    [Ophthalmic Surg Lasers Imaging Retina. 2022;53:46–48.]

    Introduction

    Wyburn-Mason syndrome (WMS), also known as Bonnet-Dechaume-Blanc syndrome, is a rare congenital disease that affects young patients in their first or second decade with unilateral arteriovenous malformation (AVM) in the retina, brain, and/or skin.1 Retinal AVM, characterized by dilated and tortuous vessels lacking capillary interposition, is found in the majority of patients with WMS and can cause complications such as neovascular glaucoma, central retinal vein occlusion, and retinal ischemia and detachment.2–4 Retinal AVM can be classified into groups based on severity. Group 3 is the most severe form, in which markedly dilated and tortuous retinal vessels without a capillary network lead to severe impairment or loss of vision, and is also associated with systemic malformations.5

    In this report, we used ultrawide field (UWF) imaging to demonstrate the progression of retinal AVM and peripheral nonperfusion areas in a pediatric patient with WMS whose vision declined to no light perception within 1 year.

    Case

    A 5-year-old girl with a history of AVM in the brain and left orbit presented with left exotropia. On evaluation, the patient had large-angle exotropia and trace afferent pupillary defect in the left eye. Best-corrected visual acuity was 20/50 in the right eye and light perception in the left eye. Results from a dilated fundus examination were unremarkable in the right eye but showed elevated optic nerve head from vascular malformation, engorged and tortuous retinal AVM, and flat macula in the left eye. UWF color fundus imaging (Optos) demonstrated group 3 retinal AVM (Figure 1A), consistent with WMS. Results from spectral-domain optical coherence tomography were unremarkable and without significant cystoid macular edema or ischemia.

    Figure 1.
    Figure 1.

    (A) Ultrawide field color fundus image of the left eye of a patient with Wyburn-Mason syndrome demonstrates dilated and tortuous vessels. (B) Fundus photograph of the left eye shows engorged and dilated retinal arteriovenous malformation and (C) progression 1 year later. (D) Ultrawide field fundus fluorescein angiography image of the left eye highlights retinal arteriovenous malformation and peripheral nonperfusion areas (arrows) and (E) progression 1 year later.

    During the next year, the patient's visual acuity had deteriorated from light perception to no light perception in the left eye, and the patient was found to have new left optic nerve swelling. Fundus photography showed increased dilation and tortuosity of retinal AVM (Figure 1A–C), and UWF fundus fluorescein angiography showed the expansion of peripheral nonperfusion areas (Figure 1D and E). Brain imaging showed stable appearance of the orbital (Figure 2A) and intracranial AVM (Figure 2B–D), but slight enlargement of tectal and thalamic AVMs were newly observed. No treatment was recommended through retina, oculoplastics, or interventional radiology for the left eye.

    Figure 2.
    Figure 2.

    (A) Axial computed tomography angiography (CTA) of the orbit of a patient with Wyburn-Mason syndrome shows left intraconal orbital arteriovenous malformation (AVM) (arrow) with mild proptosis of left eye. (B) Coronal CTA shows AVM involvement of the left basal ganglia and a large vein draining to the straight sinus. On this mixed venous and arterial phase examination, the normal cerebral vasculature is also opacified. Note the increased vasculature associated with the AVM (C and D). Sagittal CTA and magnetic resonance imaging show extensive midline brain involvement of the optic chiasm, midbrain, tectum, and cerebellum as well as enlargement of the straight sinus due to AVM drainage. Scalp AVMs are seen on panels B, C, and D.

    Discussion

    The most common locations for AVM formation in WMS are in the orbit and retina, leading to decreased or no vision in the affected eye.6 On initial presentation, our patient had extensive but relatively stable retinal lesions without evidence of intra-orbital hemorrhage, vessel occlusion, or macular edema, which lead us to believe that her poor vision was mostly due to chronic compression of the optic nerve by the orbital AVM, located at the level of the orbital apex and along the left optic nerve. With UWF imaging, we observed the progression of retinal AVM engorgement and peripheral nonperfusion areas, which, along with orbital AVM progression, contributed to the complete loss of vision in the affected eye after 1 year.

    UWF imaging with Optos provides a 200° field of view that is equivalent to 82% of the retinal surface and has been shown to be more efficient in detecting peripheral microvascular changes compared with conventional imaging techniques in conditions such as diabetic retinopathy and retinal vein occlusions.7,8 UWF has been used to detect scattered microaneurysms, peripheral capillary telangiectasia, nonperfusion, and macular leakage in a 32-year-old patient suspected of having WMS, as well as optic nerve drusen in a 16-year-old patient with WMS.9,10 Additionally, UWF imaging is done via a noncontact ophthalmoscope that is advantageous in imaging children and has been used in patients as young as 3 years old without sedation.11 This case highlights the advantages of UWF in the long-term treatment of young patients with WMS to document disease progression.

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