Kerala Journal of Ophthalmology

OPHTHA INSTA
Year
: 2021  |  Volume : 33  |  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

Correspondence Address:
Dr. Bharat Gurnani
Consultant Cornea and Refractive Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Puducherry - 605 007
India




How to cite this article:
Gurnani B, Kaur K. Asymptomatic Goldenhar syndrome in an adult.Kerala J Ophthalmol 2021;33:252-253


How to cite this URL:
Gurnani B, Kaur K. Asymptomatic Goldenhar syndrome in an adult. Kerala J Ophthalmol [serial online] 2021 [cited 2022 Jun 30 ];33:252-253
Available from: http://www.kjophthal.com/text.asp?2021/33/3/252/331922


Full Text



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.[1] As the patient was happy with her vision, she was advised best-corrected glasses and observation for GS.{Figure 1}{Figure 2}

 Clinical Signs



Eyes: Microphthalmia, epibulbar dermoids/limbal dermoids, lipodermoids, and colobomaEar: AnotiaFace: Marked facial asymmetry with unilateral macrostomia, aplasia, or hypoplasia of the mandibular ramus and condyle may be seen. Hypoplasia of the zygomatic areaSkeletal alterations: Cranium bifidum, microcephaly, dolichocephaly, plagiocephaly, spina bifida, hemivertebrae, butterfly, fused, and hypoplastic vertebrae like vertebral anomalies have been seenOther systems: Anomalies affecting trachea, lung, heart, kidney, and gastrointestinal systemsSeen in children: Congenital anomaly of mesoblasts giving rise to branchial and vertebral anomalies.[2]

 Described By



1861 – Classical features seen by Canton and then 20 years later by Von Arlt1952 – Goldenhar recorded hemifacial microsomia and epibulbar dermoids1963 – Gorlin et al. suggested the name occulo-auriculo-vertebral dysplasia1978 – 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 anomaliesJong Bloet suggested that the syndrome was a result of fertilization of overripe or aged ovumRecent 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.[3]

What else to examine?

Multisystem examination to rule out

Treacher Collins syndrome –similar features with a bilateral presentationTownes–Brocks syndrome shows thumb anomalies, anal defects, and renal anomalies which are not seen in GSLinear nevus sebaceous of Jadassohn depicts cloudy cornea, warty cutaneous lesions, infantile spasms not seen in GSCHARGE syndrome – characteristic semilunar canal anomalies and cranial nerve dysfunctions while mandibulofacial dysostosis can be differentiated by esophageal atresia and microcephaly.[3]

Take home message

GS in an adult has rarely been reported[4]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 geneAsymptomatic 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

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Dhingra D, Joshi G, Kaushik S, Pandav SS. Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome. Indian J Ophthalmol 2019;67:1751-3.
2Kokavec R. Goldenhar syndrome with various clinical manifestations. Cleft Palate Craniofac J 2006;43:628-34.
3Bekibele CO, Ademola SA, Amanor-Boadu SD, Akang EE, Ojemakinde KO. Goldenhar syndrome: A case report and literature review. West Afr J Med 2005;24:77-80.
4Mitu F, Voloşciuc M, Mitu M, Arsenescu C, Arhire O, Pandele GI, et al. Sindromul Goldenhar la adult [Goldenhar syndrome in adults]. Rev Med Chir Soc Med Nat Iasi. 2000;104:127-32. Romanian. PMID: 12089913.