Duane type I retraction syndrome associated with Wyburn-Mason syndrome.

PURPOSE: Our aim is to report the co-existence of Duane's retraction syndrome and Wyburn-Mason syndrome, a rare condition characterized by arteriovenous malformations (AVMs) in the central nervous system and retina.

METHODS: An 11-year-old boy was referred for evaluation of strabismus present since birth. On examination his uncorrected visual acuity was 6/6 in each eye, with small angle left eye esotropia in the primary position, ipsilateral face turn, abduction deficit, lid fissure narrowing in adduction and widening in abduction; plus typical features of left-sided type I Duane syndrome were present. The left fundus demonstrated localized, well-compensated, markedly convoluted, dilated and tortuous retinal vessels and venous congenital retinal macrovessel, which traverse the macular region. The right fundus was unremarkable. In order to elucidate if this retinal vascular malformation is associated with similar lesions in the orbit, paranasal sinuses and/or brain, magnetic resonance imaging (MRI) was performed, followed by digital subtraction angiography of the brain vessels.

RESULTS: Clinical features of retinal disease (typical retinal vascular malformation) and brain imaging studies have led to the diagnosis of Wyburn-Mason syndrome. Digital subtraction angiography of the brain revealed an AVM of 30 mm maximal diameter in the left occipital lobe.

CONCLUSIONS: Intracranial AVM might have affected the normal vascular development during the second month of gestation, causing involutional changes of the sixth nerve and resulted in Duane's syndrome by "steal phenomenon." Retinal AVM may point to concomitant intracranial AVMs, thus warranting neurological assessment. Patients with AVM of the retina should be examined early with brain and orbital neuroimaging to rule out cerebral AVMs.