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IP International Journal of Ocular Oncology and Oculoplasty

Goldenhar Syndrome: Clinical Spectrum and Management at a Tertiary Care Centre

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Author Details : Usha Singh, Sonia Phulke, Amit Gupta

Volume : 3, Issue : 3, Year : 2017

Article Page : 180-183

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Aim: To report an interventional case series of Goldenhar Syndrome with its clinical spectrum and management. 
Materials and Methods: We retrospectively analyzed the clinical and surgical data of 23 patients who presented to the oculoplastics services with Goldenhar syndrome.
Results: Of the 23 patients, there were 15 females and eight males with an average age of 79 months at presentation.  All had predominant ocular and aural findings associated with or without facial anomalies. Eight had bilateral involvement. The chief complaint was the presence of a white mass lesion on the eye in the majority (91%). There was a wide range of ocular signs which included refractive errors, eyelid coloboma, mechanical blepharoptosis, cystic keratinized globe, lateral canthus anomaly, conjunctival skin tags, dermolipoma, limbal dermoid, corneal opacity, microcornea, iris coloboma, congenital cataract and familial exudative vitreoretinopathy (FEVR) with retinal detachment. Non-ocular features included hemifacial atrophy in 15 (65%). None of the patients had any vertebral, cardiac anomalies, delayed developmental milestones or mental retardation. Major ocular surgical management was done in 18 (78%) patients and included excision of dermoid and dermolipoma in 10, coloboma repair in 9 and keratoplasties in three.
Conclusions: This large study was characterized by the wide ranges of clinical ocular manifestations. Management was case based and the outcome was seen in terms of improved cosmesis and maintained or improved vision.

Goldenhar syndrome (GS), Limbal dermoid, Eyelid coloboma

How to cite : Singh U, Phulke S, Gupta A, Goldenhar Syndrome: Clinical Spectrum and Management at a Tertiary Care Centre. IP Int J Ocul Oncol Oculoplasty 2017;3(3):180-183

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