Rare ocular triad: Goldenhar syndrome with Duane retraction syndrome and optic disc pit

Fig. 1: Clinical and multimodal imaging findings in a patient with Goldenhar syndrome and associated ocular anomalies. Full size image a Nine-gaze photographs demonstrating marked limitation of abduction of the left eye, globe retraction with narrowing of the palpebral fissure on adduction, and characteristic vertical upshoot and downshoot, consistent with Type I Duane retraction syndrome. Bilateral inferotemporal limbal dermoids are also visible. b External facial photograph showing bilateral microtia and multiple preauricular skin tags. c Colour fundus photograph of the left eye demonstrating a greyish superior optic disc excavation consistent with an optic disc pit. d Multimodal retinal imaging confirms a superior optic disc pit with focal excavation, associated vascular flow void, and differential involvement of the superficial and deep retinal capillary plexuses. These findings were identified in an 11-year-old girl with Goldenhar syndrome who presented with mild left head turn, mutism, and hearing impairment.