Introduction

• Goldenhar syndrome was first described by Maurice Goldenhar a Swiss ophthalmologist in 1952 as an oculoauricular dysplasia.

• Oculo-auriculo vertebral spectrum (OAVS) is a rare and congenital disorder as a result of abnormal development of the first and second branchial arches

•Choristoma or Limbal dermoid a benign tumor usually containing hair, adipose tissue, and squamous epithelium

•Some lesions do not affect vision, others can induce astigmatism or obstruct the visual axis, leading to amblyopia in children

 Case history

• A eleven-year-old female patient presented to us with a growth in her right eye since birth

• Associated with redness and blurring of vision

• Painless and progressive in nature

• Not associated with foreign body sensation, watering

• No history of any previous admissions

• No history of any developmental delay

• No history of consanguineous marriage between the parents or drug intake during pregnancy.

• The unaided visual acuity in right eye is 6/18p not improving on pinhole and 6/6 in left eye , near vision in right eye being N 18 and left eye is N 6

• Autorefractometry was done showed +0.75 spherical +2.75 cylindrical at 91 degree axis the other eye being emmetropic

 General examination

 • facial malformations and accessory auricular appendages ipsilateral to the limbal dermoid

• Polydactyly was observed in the left upperlimb

On slit lamp examination

• On diffuse illumination observed a fleshy raised mass measuring 4x4mm arising from bulbar conjunctiva extending upto 3mm of inferotemporal cornea from 7’o clock to 9’o clock hours , reaching pupil , involving temporal limbus

• Multiple hair shafts over the lesion

 Investigations

• CT scan of faciomaxillary region done showed hypoplastic right ramus of hemimandible , right coronoid and condyloid process with concave curvature of ramus of right hemimandible

• Non visualisation of right parotid gland with normal left parotid suggestive of mandibulofacial synostosis.

Plan of treatment

• Under general anaesthesia underwent dermoid cyst excision

• On topical steroids in tapering dosage for a period of 1 month

 Discussion

• Goldenhar syndrome is a rare developmental disorder of 1st & 2nd branchial arches.

• Has highly variable phenotype → craniofacial malformations (microtia, mandibular hypoplasia, epibulbar dermoids) + vertebral anomalies.

• mostly sporadic; emerging evidence for FOXI3 and other variants, but etiology remains multifactorial.

• Multidisciplinary management includes craniofacial surgery, ENT, ophthalmology, orthopedics, genetics — tailored to each patient’s needs.

Dr. Christina S. is an ophthalmologist based in Mangalore, Karnataka, India, working in the Department of Ophthalmology. She specializes in eye care, surgery, and patient education, contributing to regional eye‑health initiatives.