Goldenhar syndrome is a more severe presentation of the OAV spectrum. Patients with Goldenhar syndrome have HFM (unilateral or bilateral) in addition to characteristic ophthalmic abnormalities. Most cases are sporadic.
Epibulbar and limbal dermoids are the ocular hallmarks of Goldenhar syndrome. Epibulbar dermoids (also termed lipodermoids) usually occur in the inferotemporal quadrant, covered by conjunctiva and often hidden by the lateral upper and lower eyelids. Limbal dermoids are reported more frequently than lipodermoids and can be bilateral (in approximately 25% of cases). They occasionally impinge on the visual axis but more commonly interfere with visual acuity by causing astigmatism; they can also cause anisometropic amblyopia. Eyelid colobomas may occur. Other abnormalities include microphthalmia, cataract, and iris abnormalities (Fig 28-9). Duane syndrome is more common in patients with Goldenhar syndrome than in the general population.