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Year : 2014  |  Volume : 2  |  Issue : 3  |  Page : 159-160

Anterior segment optical coherence tomography (ASOCT) in Goldenhar syndrome

Department of Ophthalmology, Gajaraja Medical College, Gwalior, Madhya Pradesh, India

Date of Web Publication16-Aug-2014

Correspondence Address:
Dr. Uma Sharan Tiwari
Department Ophthalmology, 14-C, J A Hospital Campus, Gwalior - 474 009, Madhya Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2320-3897.138863

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How to cite this article:
Tiwari US, Kujur R, Paul RK, Singh N. Anterior segment optical coherence tomography (ASOCT) in Goldenhar syndrome. J Clin Ophthalmol Res 2014;2:159-60

How to cite this URL:
Tiwari US, Kujur R, Paul RK, Singh N. Anterior segment optical coherence tomography (ASOCT) in Goldenhar syndrome. J Clin Ophthalmol Res [serial online] 2014 [cited 2022 Dec 3];2:159-60. Available from: https://www.jcor.in/text.asp?2014/2/3/159/138863

Dear Editor,

Goldenhar syndrome or Oculo-Auriculo-Vertebral (OAV) dysplasia is characterized by a heterogenous constellation of malformations, classically involving the face, eyes, ears, and vertebral column. [1] The characteristic combination of external ear anomalies and ipsilateral facial underdevelopment is the hallmark of this syndrome. [2] We report a case of Goldenhar syndrome wherein anterior segment optical coherence tomography (ASOCT) has been performed to find out anterior chamber angle details.

A 7-year-old male child was brought to the eye clinic with the complaint of a yellowish white mass over the right eyeball since birth. Ocular examination revealed the presence of epibulbar dermoid at the 9 o'clock position (8.0 mm diameter, hemispherical), encroaching up to pupillary margin [Figure 1]. The additional findings of hemifacial hypoplasia on the affected side with preauricular appendages established the diagnosis of Goldenhar syndrome. General and systemic examination showed no vertebral abnormality. Radiological investigations including X-ray of vertebral column were normal. Since there was difficulty in the insertion of the Gonio lens, ASOCT was performed that showed the anterior chamber angle to be free from any abnormal tissue [Figure 2]. The extent of stromal involvement was nearly 50% on ASOCT.
Figure 1: Epibulbar dermoid with preauricular appendages

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Figure 2: Anterior segment optical coherence tomography (ASOCT) showing no abnormality in anterior chamber angle

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The incidence of Goldenhar syndrome has been reported to be 1:3500-1:5600 with a male to female ratio of 3:2. [3] Due to the complexity and varying expression of this syndrome, some researchers suggest that Goldenhar syndrome actually presents different levels of severity of the OAV spectrum. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance. [4] It is reported that the right side is more severely affected than the left. [5] As such, the exact etiology is not yet known; however, researchers [6] suggested a link between genetic causes and vascular disruption in Goldenhar syndrome.

Pirouzian recently described a clinical grading system for corneal limbal dermoids, originally inscribed by Mann (1967). This grading system provides a surgical guideline for each of the three grades of the limbal dermoid. [7] Grade I limbal dermoids are superficial lesions measuring less than 5 mm and are localized to the limbus. Such lesions can lead to the development of anisometropic amblyopia with slow growth resulting in oblique astigmatism and flattening of cornea adjacent to the lesion. Grade II limbal dermoids are larger lesions covering most of the cornea and extending deep into the stroma down to Descemet's membrane without involving it. Grade III limbal dermoids, the least common of all the presenting dermoids, are large lesions covering the whole cornea and extending through the histological structures between the anterior surface of the eyeball and the pigmented epithelium of the iris. In presence of limbal dermoid, it may be difficult to perform gonioscopy and find out the extent of anterior chamber involvement. ASOCT can help in making such assessment. ASOCT also indicates extent of stromal involvement for grading of limbal dermoid.

In present case, the ASOCT showed no involvement of anterior chamber and nearly 50% of stromal Involvement; accordingly, the lesion fits into grade I limbal dermoid.

  References Top

1.Das A, Majumdar S, Chatterjee SS. Atypical case of oculo-facio-auriculo-vertebral dysplasia (goldenhar-gorlin syndrome). Indian J Ophthalmol [serial online] 1999; 47:131-3.   Back to cited text no. 1
2.Taksande A, Vilhekar KY, Jain M. Atypical presentation of Goldenhar syndrome. J MGIMS 2006;11:45-52.  Back to cited text no. 2
3.Grabb WC. The first and second brachial arch syndromes. Plast Reconstr Surg 1965;36:485-508.  Back to cited text no. 3
4.Tsai FJ, Tsai CH. Autosomal dominant inherited Oculo-auriculo-vertebral spectrum report of one family. Act Paediatric Sin 1993; 34:27-31.  Back to cited text no. 4
5.Trivedi HL, Murade S, Harne S, Aarbhave V. Incomplete presentation of Goldenhar syndrome. Bombay Hosp J 2007; 49:519-21.  Back to cited text no. 5
6.Soltan HC, Holmes LB. Familial occurrence of malformations possibly attributable to vascular abnormalities. J Pediatr 1986;108:112-4.  Back to cited text no. 6
7.Pirouzian A. Management of pediatric corneal limbal dermoids. Clinical Ophthalmology 2013;7:607-14.  Back to cited text no. 7


  [Figure 1], [Figure 2]

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