Delhi Journal of Ophthalmology

Association of Goldenhar with Duane’s Retraction Syndrome

Shagun Korla, Savleen kaur, Jaspreet Sukhija
Advanced eye centre (Department of Ophthalmology) Postgraduate Institute of Medical Education and Research, Chandigarh, India

Corresponding Author:

Savleen Kaur, Assistant Professor
Advanced Eye Centre, PGIMER, Chandigarh
Email: mailsavleen@gmail.com

Received: 29-APR-2020

Accepted: 11-MAY-2020

Published Online: 20-DEC-2020

DOI:http://dx.doi.org/10.7869/djo.606

Abstract
A six-year girl presented with history of deviation of eye and facial asymmetry. Diagnosis of Goldenhar syndrome (GHS) with Duane retraction syndrome (DRS) was made. This case highlights DRS as an unusual but known association of Goldenhar Syndrome. Patient with GHS presenting to an ophthalmologist should be screened for vertebral, cardiac, renal and central nervous system defects.

Keywords :Goldenhar Syndrome, Duane's Retraction Syndrome, Microsomia, Branchial Arch Syndrome

A six-year girl presented with history of deviation of eye and facial asymmetry (A). On examination, there was a notch in the upper lid (B) and preauricular skin tags (C). Ocular motility showed (D) deficient adduction (black arrow) and abduction (white arrow). Diagnosis of Goldenhar syndrome (GHS) with Type III Exotropic Duane retraction syndrome (DRS) was made. 
GHS is known by various names depending upon the components of the disease complex. This includes craniofacial microsomia, oculo-auriculo-vertebral syndrome, hemifacial microsomia and Ist and IInd branchial arch syndrome. The pathognomic triad includes presence of epibulbar dermolipoma or bulbar dermoid, low set ears and vertebral skeletal anomalies.1,2
GHS affects derivatives of the first and second brachial arch.3 Abnormalities are unilateral in 85% and bilateral in 10–33% of the cases and the right side is more frequently affected.4 Ophthalmic features include microphthalmia,dermoids, coloboma, cataract and strabismus. Ocular anomalies mainly bilateral dermoids are seen in 60%, vertebral anomalies in 40%, and ear anomalies in 40% of the cases.
DRS is an unusual but known association of GHS. Incidence of Duane Retraction Syndrome(DRS) with GHS is around 5% in sporadic and 10% in familial cases. The frequent association of DRS with other congenital anomalies might be suggestive of teratogenic event occurring between the fourth to eighth week of gestation as an etiological factor.6
Patient with GHS presenting to an ophthalmologist should be screened for vertebral, cardiac, renal and central nervous system defects.


Figure 1: Composite photograph of a 6-year girl highlighting the association of Goldenhar and Duane’s Retraction Syndrome. A: She presented with a facial asymmetry and low set ears. B: There was a notch in the upper lid and preauricular tags (C). Ocular motility revealed deficient adduction and abduction (D). 

References
  1. Harley: Paediatric Ophthalmology, Vol II, Saunders Company. 1983 (1041-1043.1243)
  2. Feingold, M, and Gabis. S: Ocular abnormality associated with 1st and lied arch syndrome: Survey Ophthal. 14:30, 1968. 
  3. Verma MJ, Faridi MM. Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome - a case report. Indian J Ophthalmol. 1992;40:61-2.
  4. Bielicka B, Necka A, Andrych M. Interdisciplinary treatment of patients with Goldenhar Syndrome – Clinical reports. Dent Med Probl. 2006;43:458–62.
  5. Kulkarni V, Shah M, Parikh A. Goldenhar syndrome: A case report. J Postgrad Med. 1985;31:177–9.
  6. Patrick A, Anthony R, Rudolph S, Suqin G. Duane's retraction syndrome. Survey of Ophthalmology. 1993;38: 257-88.

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Korla S, Kaur S, Sukhija JAssociation of Goldenhar with Duane’s Retraction Syndrome.DJO 2020;31:103-104

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Korla S, Kaur S, Sukhija JAssociation of Goldenhar with Duane’s Retraction Syndrome.DJO [serial online] 2020[cited 2021 Jan 26];31:103-104. Available from: http://www.djo.org.in/articles/31/2/Association-of-Goldenhar-with-Duanes-Retraction-Syndrome.html