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Ocular Manifestations Of Goldenhar Syndrome: At A Glance
Isha Acharya, Jolly Rohatgi, Ashit Handa, Anchal Arora, Saini Aarushi, Tadu Nampi
Department of Ophthalmology, University College of Medical Sciences (UCMS), Guru Teg Bahadur (GTB) Hospital, Delhi, India

Corresponding Author
Isha Acharya (MBBS)
Department of Ophthalmology, 
University College of Medical Sciences (UCMS),
Guru Teg Bahadur (GTB) Hospital, Delhi, India.


Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease with an incidence of 1:3500 and 1:5600. It occurs due to abnormal development of the first and second branchial arches. It has a multifactorial etiopathogenesis. The typical features of Goldenhar syndrome include ocular anomalies - epibulbar dermoids, microphthalmia and coloboma, auricular features such as preauricular tags, hearing loss, micrognathia, and vertebral anomalies such as scoliosis or hemivertebrae.

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease occurring due to abnormal development of the first and second branchial arches.1 

It has a multifactorial etiopathogenesis and dependent on genetic and environmental factors.2 It is associated with constellation of anomalies including ocular, craniofacial (cleft lip / palate, mandibular hypoplasia, etc) (Figure 1), auricular (preauricular appendages / fistulas, ear asymmetry, microtia,etc), (Figure 2) and skeletal (vertebral defects, etc) deformities.3-6

Ocular Manifestations
The classic ocular features of this syndrome include microphthalmia, epibulbar dermoids, lipodermoids (Figure3) and coloboma. However, there are many additional ocular signs that can be found in a patient of Goldenhar syndrome associated with systemic features. (Table 1)

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