Anomalous optical coherence tomography findings in Wyburn-Mason syndrome and isolated retinal arteriovenous malformation

• Published in: Journal of AAPOS Vol. 19; no. 2; pp. 175 - 177
• Main Authors: Chowaniec, Margaret J., BS, Suh, Donny W., MD, FAAP, Boldt, H. Culver, MD, Stasheff, Steven F., MD, PhD, Beer, Paul M., MD, Barry, Gerard P., MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.2015
• Subjects: Arteriovenous Fistula - diagnosis; Arteriovenous Fistula - physiopathology; Arteriovenous Malformations - diagnosis; Arteriovenous Malformations - physiopathology; Child; Child, Preschool; Female; Humans; Magnetic Resonance Angiography; Male; Neurocutaneous Syndromes - diagnosis; Neurocutaneous Syndromes - physiopathology; Ophthalmology; Retinal Artery - abnormalities; Retinal Vein - abnormalities; Tomography, Optical Coherence; Visual Acuity - physiology; Visual Fields - physiology
• ISSN: 1091-8531; 1528-3933
• DOI: 10.1016/j.jaapos.2014.09.019

We report 2 cases of unilateral retinal arteriovenous malformation (AVM) with previously unreported anomalies of the inner retinal layers detected on spectral domain optical coherence tomography (SD-OCT): a 5-year-old girl with a large unilateral retinal AVM, ipsilateral visual acuity of 20/200, and ipsilateral intracranial AVM; and a 10-year-old boy with a large unilateral retinal AVM, ipsilateral visual acuity of 20/20, ipsilateral temporal visual field defects, and no intracranial AVM. Both macular SD-OCT findings showed multiple large inner retinal vessels that created a prominent shadowing artifact, retinal thickening, and speckling and heterogeneity of inner retinal layers.