2020–2021 BCSC Basic and Clinical Science Course™
8 External Disease and Cornea
Chapter 8: Systemic Disorders With Corneal and Other Anterior Segment Manifestations
Skeletal and Connective Tissue Disorders
Goldenhar-Gorlin syndrome, also known as oculoauriculovertebral (OAV) syndrome, is a rare congenital condition characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
The cause of Goldenhar-Gorlin syndrome is uncertain, but it may have a genetic component.
Common clinical manifestations include limbal dermoids (Fig 8-12A), preauricular skin tags (Fig 8-12B), and strabismus. Affected patients also have hemifacial microsomia and hearing difficulties. The condition can be associated with colobomas of the eyelids (upper > lower eyelid) and with aural fistulae. In addition, scoliosis can develop secondary to incomplete development of the vertebrae. Corneal dermoids can occur independently of Goldenhar-Gorlin syndrome and are choristomas that result from faulty development of eyelid folds; thus, they are displaced embryonic tissue that was destined to become skin. Dermoids are composed of fibrous and fatty tissue and occasionally hair and sebaceous gland material. Limbal dermoids are covered by conjunctiva and often have an arcuslike deposition of lipid along their anterior corneal border. See Table 8-5 for additional clinical findings.
A, Clinical photograph showing an inferotemporal limbal dermoid in a patient with Goldenhar-Gorlin syndrome. Note the multiple hair follicles. B, External photograph showing preauricular skin tags in a patient with Goldenhar-Gorlin syndrome.
(Courtesy of Stephen E. Orlin, MD.)
Corneal dermoids can lead to amblyopia if they induce significant corneal astigmatism. As the child grows, the dermoid enlarges with the eye; it has virtually no malignant potential. The elevated portion of the dermoids can be surgically shaved down to improve cosmetic appearance, but the lesions often extend deep into underlying tissues. Some corneal astigmatism might remain, but it can permit fitting of a rigid contact lens. LK can also improve the cosmetic appearance.
Al-Shamekh S, Traboulsi EI. Skeletal and connective tissue disorders with anterior segment manifestations. In: Mannis MJ, Holland EJ, eds. Cornea. Vol 1. 4th ed. Philadelphia: Elsevier; 2017:645–664.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.