Case Study: Pseudoxanthoma Elasticum with Central Retinal Artery and Vein Occlusion

Researchers presented a case of a patient with pseudoxanthoma elasticum (PXE) who developed central retinal artery and vein occlusion. The findings were presented at the American Society of Retina Specialists (ASRS) 2021 Annual Meeting.

In this case, the patient was a 57-year-old man with PXE, hyperlipidemia, hypertension, and advanced coronary artery disease (CAD) who presented with left eye vision loss lasting four months. The patient was observed to have 20/20 vision in the right eye. An examination of the left eye revealed angioid streaks, optic disc pallor, retinal pallor, a cherry red spot, vessel attenuation, and intraretinal hemorrhages, the researchers noted. The patient had a history of cigarette smoking and had previously undergone coronary artery bypass grafting at age 47 due to premature CAD.

Testing showed that erythrocyte sedimentation rate, C-reactive protein, platelets, lipids, and hemoglobin A1c were unremarkable, although homocysteine was moderately elevated. Computed tomography (CT) angiography showed mild to moderate atherosclerosis of internal carotid arteries, and a brain CT showed no abnormalities. The patient was diagnosed with a combined central retinal artery and vein occlusion and was treated with intravitreal bevacizumab.

Subsequent to treatment, optical coherence tomography showed retinal thinning and reduced intraretinal fluid, and fluorescein angiography showed delayed filling of retinal arteries. The patient’s visual acuity failed to improve.

“PXE is characterized by vasculo-endothelial abnormalities that include calcification of elastic fibers and narrowing of small- and medium-sized arteries, which contribute to hypertension and premature atherosclerosis,” the researchers concluded. “The vascular changes from PXE, as well as from smoking and elevated homocysteine, likely placed the patient at a higher risk for a combined central retinal artery and vein occlusion.”

Source: Somani N, Annan J. Pseudoxanthoma Elasticum with Central Retinal Artery and Vein Occlusion. Published for ASRS 2021; October 8-12, 2021, San Antonio, TX.