|Year : 2021 | Volume
| Issue : 3 | Page : 252-253
Asymptomatic Goldenhar syndrome in an adult
Bharat Gurnani1, Kirandeep Kaur2
1 Cornea and Refractive Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Puducherry, India
2 Pediatric Ophthalmology and Strabismus Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Puducherry, India
|Date of Submission||18-Jan-2021|
|Date of Acceptance||21-Mar-2021|
|Date of Web Publication||08-Dec-2021|
Dr. Bharat Gurnani
Consultant Cornea and Refractive Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Puducherry - 605 007
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Gurnani B, Kaur K. Asymptomatic Goldenhar syndrome in an adult. Kerala J Ophthalmol 2021;33:252-3
A 60-year-old elderly female presented to our clinic for routine examination. There was no significant past history. Snellen's best-corrected visual acuity in both eyes (BE) was 6/6 with − 2D sphere. Intraocular pressure by noncontact tonometry was 14 mmHg in the right eye (RE) and 16 mmHg in the left eye (LE). Slit lamp examination in the RE revealed upper lid [Figure 1]a coloboma with papilloma [Figure 1]b and early cataract. Slit lamp evaluation in the LE revealed small temporal whitish elevated epibulbar dermoid abutting the limbus at 3'O clock [Figure 1]c with early cataract. Fundoscopy was within normal limits in BE. General examination revealed preauricular appendages on both the ears [Figure 2]a and [Figure 2]b. Looking at the clinical picture, a diagnosis of Goldenhar syndrome (GS) with lenticular myopia was made. As the patient was happy with her vision, she was advised best-corrected glasses and observation for GS.
|Figure 1: (a) Image of the right eye depicting upper lid papilloma with skin tag suggestive of Goldenhar syndrome (b) Image of the right eye depicting upper lid coloboma (c) Image of the left eye depicting temporal epibulbar epidermoid|
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|Figure 2: (a) Image of the right ear depicting preauricular appendage (b) Image of the left ear depicting preauricular skin appendage|
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| Clinical Signs|| |
- Eyes: Microphthalmia, epibulbar dermoids/limbal dermoids, lipodermoids, and coloboma
- Ear: Anotia
- Face: Marked facial asymmetry with unilateral macrostomia, aplasia, or hypoplasia of the mandibular ramus and condyle may be seen. Hypoplasia of the zygomatic area
- Skeletal alterations: Cranium bifidum, microcephaly, dolichocephaly, plagiocephaly, spina bifida, hemivertebrae, butterfly, fused, and hypoplastic vertebrae like vertebral anomalies have been seen
- Other systems: Anomalies affecting trachea, lung, heart, kidney, and gastrointestinal systems
- Seen in children: Congenital anomaly of mesoblasts giving rise to branchial and vertebral anomalies.
| Described By|| |
- 1861 – Classical features seen by Canton and then 20 years later by Von Arlt
- 1952 – Goldenhar recorded hemifacial microsomia and epibulbar dermoids
- 1963 – Gorlin et al. suggested the name occulo-auriculo-vertebral dysplasia
- 1978 – Smith used the term facio-auriculo-vertebral sequence to include both hemifacial microsomia and GS.
Why it occurs?
Various hypotheses are:
- Gorlin and Pindborg hypothesized that an unknown primary cause of faulty embryological development causes abnormality of the mesoblasts giving rise to branchial and vertebral anomalies
- Jong Bloet suggested that the syndrome was a result of fertilization of overripe or aged ovum
- Recent accepted theory states imbalance in cells during the blastogenesis period (30–45 days of intrauterine life) of embryo formation. It is found to involve the derivatives of the first and second branchial arches.
What else to examine?
Multisystem examination to rule out
- Treacher Collins syndrome More Details –similar features with a bilateral presentation
- Townes–Brocks syndrome shows thumb anomalies, anal defects, and renal anomalies which are not seen in GS
- Linear nevus sebaceous of Jadassohn depicts cloudy cornea, warty cutaneous lesions, infantile spasms not seen in GS
- CHARGE syndrome – characteristic semilunar canal anomalies and cranial nerve dysfunctions while mandibulofacial dysostosis can be differentiated by esophageal atresia and microcephaly.
Take home message
- GS in an adult has rarely been reported
- Patients in various age groups can have varied manifestations as phenotype can vary greatly in its severity depending on the activation and expression of the defective gene
- Asymptomatic cases of GS can be observed.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understand that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
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[Figure 1], [Figure 2]