Uncommon association between vascular Ehlers-Danlos syndrome and ocular complications

Abstract

Ehlers-Danlos syndromes (EDS) represent a group of rare inherited disorders that affect connective tissues. There are 13 types of disease, most of them affecting joints or skin; symptoms usually include loose joints, joint pain, stretchy velvety skin, abnormal scar formation. However, the most serious type of disease is vascular EDS (vEDS), or EDS type 4 because patients may suffer vessels dissections or internal organs lesions, followed by bleeding, which endangers patient's life, but also thromboembolic events. We present two clinical cases of vEDS managed in our clinic in 1 year distance. In both cases, patients were active young persons (in their thirties, and respectively, twenties), both with multiple non-traumatic vascular dissections, and severe ocular complications: arterio-venous fistula with massive exophthalmia, and central retinal artery occlusion, respectively. Both cases were challenging since the life of the patients were threatened by their condition. However, in both cases, prompt treatment and finding the right trigger of the ocular pathology and vascular injuries helped doctors to provide proper and prompt medical care, in order to prevent future similar events to happen and to preserve a good quality of life for these patients.

Keywords: arterio-venous fistula; retinal artery occlusion; vascular Ehlers–Danlos syndrome; vascular dissections; young persons.

Figure 1

(A,B) Frontal view showing axial proptosis, as well the massive chemosis with conjunctival prolapse over the lower eyelid.

Figure 2

Patient’s appearance: narrow nose, translucent skin, thin vermilion lips.

Figure 3

(A,B) Magnetic resonance angiography (MRA) of the brain highlighting the arterialization of the cavernous sinus (axial plane) – see red arrows.

Figure 4

Magnetic resonance angiography (MRA) showing axial proptosis and dilation of the superior right ophthalmic vein – see red arrow.

Figure 5

(A,B) Cerebral angiography highlighting the Type D carotid-cavernous fistula [according to Barrow classification (4)] on the right side, and dural shunts between both branches from the external carotid artery (ECA) ant the internal carotid artery (ICA).

Figure 6

(A,B) Cerebral angiography highlighting the direct carotid-cavernous fistula (Type D). Notice the dilated superior ophthalmic vein – see red arrow, and the shunts between ECA and ICA and the facial vein – see blue arrow.

Figure 7

(A,B) Cerebral angiography capture showing embolization of the carotid-cavernous fistula through the facial vein – see red arrows.

Figure 8

(A,B) Cerebral angiography captures showing embolization of the carotid-cavernous fistula – see red arrows.

Figure 9

(A,B) Final ICA injection showing complete embolization of the carotid cavernous fistula, frontal, and lateral view.

Figure 10

Front view of the patient, 1 month after the angiographic intervention.

Figure 11

Appearance of the 28 years old patient presented in the ER with CRAO in the left eye.

Figure 12

Aspect of the left eye fundus showing CRAO with cilioretinal artery sparing.

Figure 13

Cerebral angiography (A) – frontal view showing dissection in the C2–C3 segments of the left ICA, with post stenotic dilatation and poor intracranial filling. (B) Left anterior oblique view showing dissection of the C2–C3 segments of the ICA (brackets) and a pseudo-aneurism (red arrow). (C) Lateral view showing persistent right trigeminal artery (red arrow). (D) Frontal view showing right VA dissection (red arrow). (E) Lateral view showing left VA dissection (red arrow).