Delhi Journal of Ophthalmology

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.
Email: isha515acharya@gmail.com 

Received: 18-DEC-2020

Accepted: 08-FEB-2021

Published Online: 05-OCT-2021

DOI:http://dx.doi.org/10.7869/djo.701

Abstract
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.

Keywords :Congenital, Auricular, Dermoid, Coloboma

Introduction
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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Acharya I, Rohatgi J, Handa A, Arora A, Aarushi S, Nampi TOcular Manifestations Of Goldenhar Syndrome: At A Glance.DJO 2021;32:91-92

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Acharya I, Rohatgi J, Handa A, Arora A, Aarushi S, Nampi TOcular Manifestations Of Goldenhar Syndrome: At A Glance.DJO [serial online] 2021[cited 2021 Dec 6];32:91-92. Available from: https://www.djo.org.in/articles/32/1/Ocular-Manifestations-Of-Goldenhar-Syndrome.html