Poretti-Boltshauser Syndrome: A Potential Pathognomonic “Wolfjaw” Pattern of Retinal Perfusion

This is the authors' abstract. We don't add key points for this paper.

This is a case of a 9-month-old boy who presented to the ophthalmology clinic with bilateral tearing, strabismus, and upward-gaze nystagmus. Physical examination revealed large-angle esotropia with cross-fixation, hypertonia, and repetitive head movements. Optical coherence tomography showed bilateral staphylomas and abnormal retinal contour. Fluorescein angiography (FA) demonstrated complete nonperfusion of the macula and temporal periphery corresponding to the ciliary nerve region, with some leakage and abnormal vessel dilation. Electroretinography exhibited significant dysfunction of rod and cone photoreceptors, with magnetic resonance imaging demonstrating cerebellar hypoplasia. The constellation of findings prompted genetic testing, which was initially negative. However, additional testing identified a variant implicated in Poretti-Boltshauser syndrome. This case highlights a characteristic "wolfjaw" pattern of perfusion and underscores the necessity of strong clinical suspicion, even in the face of inconclusive testing, to identify rare syndromic conditions.