Bilateral Wyburn–Mason Syndrome Presenting with Macular Edema

Abstract

The Wyburn-Mason or Bonnet-Dechaume-Blanc syndrome is a sporadic illness which is a type of phakomatosis, usually present as unilateral arteriovenous malformations (AVM), for the first defined by Magnus in 1874 as retinal AVM later in 1932 another description gave by Yates and Payne; as an AVMs of the retina and cerebral vasculature, while in 1937 Bonnet, Dechaume and Blanc defined as AVM involving facial, retinal and brain blood vessels, then in 1943 all literature revised by Wyburn-Mason to put together to his case reports, therefore, the name of Bonnet-Dechaume-Blanc syndrome given in France, but in English articles entitled as Wyburn-Mason syndrome [1]. At that time, due to a deficiency in diagnostic imaging techniques, all the diagnosis were performed by clinical findings, operation, or autopsy [2]. Usually, it is a unilateral disorder comprising of three distinct components: orbit, brain (ipsilateral to the retina) and face, in the face; the sensory region of the trigeminal nerve distribution involved, that takes the shape of naevi which might be wholly formed and illness, is complete, or the naevi might be faint or absent, the latter regarded as an incomplete disease [1, 3] but rarely a bilateral involvement encountered with an asymmetrical grade of malformation [4]. The pathology starts in the early embryonic period, and if vascular dysgenesis encountered can lead to a wide range of neurocutaneous vascular defects in the cerebrum or ocular or both [2]. When the disorder reaches the last stage, the AVM can compress the optic nerve causing impaired perfusion, ischemia eventually optic atrophy [2]. Another explanation for visual loss is glaucoma as a result of elevated vascular pressure, neovascularization resulting from ischemia, which might lead to vitreous hemorrhage [5]. Archer et al., staged the disease into three groups [6][7][8]: Group 1 (AVM cannot be detected clinically). Group 2 (Clinically seen as edema and hemorrhage due to direct AVM, i.e., no capillary network between them). Group 3 (Clinically, it is impossible to distinguish arteries from veins due to severely dilated blood vessels all over retina). We present a 41-year-old male presented with a gradual decrease in his visual acuity in both eyes.