Spontaneous Thrombosis of an Orbital Arteriovenous Malformation Revealing Hereditary Haemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)

Abstract

<jats:p> Hereditary Haemorrhagic Telangiectasia (HHT) is a genetic disorder responsible for cutaneous or mucosal telangiectasia and arteriovenous malformations (AVMs). The most frequent locations are lung and brain. In contrast, orbital AVMs are very rare. We describe a case of symptomatic orbital arteriovenous malformation due to spontaneous thrombosis. A 65-year-old woman was referred for chronic right eye proptosis associated with dilation of conjunctival vessels with a jellyfish pattern. Right visual acuity was 20/40 and intraocular pressure was 40 mmHg. Personal and familial history of recurrent epistaxis, associated with multiple telangiectasia within lips and palate, led to the diagnosis of HHT. Magnetic resonance imaging (MRI) completed with cerebral angiography found a giant and occluded AVM within the right orbit. Other AVMs were also found in brain and chest, confirming the diagnosis. Antiglaucomatous eyedrops were added to reduce intraocular pressure and a steroid therapy was begun. Two months later, visual acuity decreased in the right eye, due to a central retinal vein thrombosis. In conclusion, Most brain or pulmonary AVM can be treated by embolization. By contrast, this treatment in case of orbital location can lead to central retinal artery and/or central retinal vein occlusion, which may also appear as a spontaneous complication of the orbital AVM. Therapeutic management of orbital AVM is thus not standardized, and the balance between spontaneous and iatrogenic risk of visual loss has to be taken into account. </jats:p>

Combined approach to management of periocular arteriovenous malformation by interventional radiology and surgical excision

“…Orbital AVMs may be associated with similar lesions elsewhere in Wyburn-Mason syndrome and hereditary hemorrhagic telangiectasia or Rendu–Osler–Weber syndrome. [ 4 ] A classification system by Schobinger describes the clinical characteristics of superficial AVM. [ 5 ] [ Table 1 ].…”

Neuro-ophthalmology Annual Review

“…Although steroid treatment and IOP-lowering drops were initiated on the affected eye, the patient ultimately experienced a central retinal artery occlusion in the eye 2 months later. 85 These cases emphasize the wide scope of orbital AVM presentations, the importance of a careful, complete physical examination, and consideration for the possible adverse affects of treatment embolization in some types of orbital AVMs, although in this case, the thrombosis occurred spontaneously.…”

An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

“…The authors suggested that this finding could be related to the disease, as it is caused by mutations in genes involved in the TGF-β superfamily signalling, which also plays a role in glaucoma pathogenesis. Van Went et al described a case of spontaneous thrombosis of an orbital AVM leading to proptosis, chemosis, and ocular hypertension as the presenting symptom in one patient [ 61 ]. In one case, longstanding hypoxemia and polycythemia due to a large pulmonary AVM with right-to-left shunt, contributed to hyperviscosity and consequent branch retinal artery occlusion in a patient with HHT [ 62 ].…”