Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.
Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
Corneal ulcers associated with Goldenhar syndrome.
Snyder DA, Swartz M, Goldberg MF. J Pediatr Ophthalmol. 1977;14(5):286-9.
Predisposing ocular anomalies in patients with Goldenhar syndrome include corneal hypesthesia; keratoconjunctivitis sicca, and exposure secondary to eyelid colobomas, lacrimal gland and duct anomalies, dermoids and lipodermoids, and neurologic deficits.
