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Review
. 2018 Apr-Jun;62(2):96-104.

Goldenhar Syndrome - ophthalmologist's perspective

Speranţa Schmitzer  1 , Miruna Burcel  1 , Dana Dăscălescu  1 , Ioana Claudia Popteanu  1
Affiliations
Review

Goldenhar Syndrome - ophthalmologist's perspective

Speranţa Schmitzer et al. Rom J Ophthalmol. 2018 Apr-Jun.

Abstract

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease arising from the abnormal development of the first and second branchial arches. The incidence is between 1:3500 and 1:5600, with a male: female ratio of 3:2. The etiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknown aspects. The classic features of Goldenhar syndrome include ocular anomalies - epibulbar dermoids, microphthalmia and coloboma, ENT features such as preauricular tragi, hearing loss, low implantation of the auricular pavilion, micrognathia, and vertebral anomalies such as scoliosis or hemivertebrae. The abnormalities are unilateral in 85% of the cases. Ocular features, especially bilateral dermoids are seen in 60% of the cases. The treatment varies with age and systemic associations, from mainly cosmetic, in uncomplicated cases, to complex reconstructive surgeries in severe cases. While the oculoplastic surgeon manages the oculo-palpebral defects, severe forms require a multidisciplinary approach. Treatment should be individualized, adapted to age, as well as to the extent and severity of the disease. The paper is based on the editorial team cases and experience.

Keywords: Goldenhar; coloboma; epibulbar choristoma; subconjunctival dermoid.

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Figures

Fig. 1 (a,b)
Fig. 1 (a,b)
The characteristic combination of external ear, ocular anomalies and ipsilateral facial underdevelopment is the hallmark of Goldenhar syndrome
Fig. 2
Fig. 2
Ocular features in Goldenhar Syndrome – upper eyelid coloboma, epibulbar choristoma (a, b), subconjunctival dermoid (c)
Fig. 3
Fig. 3
Upper eyelid coloboma
Fig. 4
Fig. 4
RE upper eyelid coloboma complicated with corneal ulceration
Fig. 5
Fig. 5
Small defect - up to 25% - direct tissue apposition
Fig. 6
Fig. 6
Upper eyelid coloboma before (a) and after (b) direct tissue apposition.
Fig. 7
Fig. 7
Coloboma between 25-35% of the length of the eyelid - Tenzel semicircular flap
Fig. 8
Fig. 8
Large upper eyelid coloboma before (a) and after (b) a Tenzel semicircular flap was performed
Fig. 9
Fig. 9
Cutler Beard technique
Fig. 10
Fig. 10
Tarsomarginal graft
Fig. 11
Fig. 11
a- Bilateral epibulbar choriostomas; b – epibulbar choriostoma with hair follicles on the surface
Fig. 12
Fig. 12
Epibulbar choriostoma berfore (a) and after (b) surgical excision.
Fig. 13
Fig. 13
Dermolipomas
Fig. 14
Fig. 14
Hemifacial microsomia and bilateral lipodermoids – before (a,c) and after (b,d) the surgical excision
See this image and copyright information in PMC

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