Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome

Int Ophthalmol. 2020 Mar;40(3):667-675. doi: 10.1007/s10792-019-01227-0. Epub 2019 Nov 23.

Abstract

Purpose: To study the ophthalmic clinical profile and the management outcomes of children having Goldenhar syndrome (GS).

Methods: Retrospective review of included children fulfilling the diagnostic criteria of GS was performed. The demography, ophthalmic features, systemic anomalies, and treatment outcomes were recorded manually from patient files. An ENT, pediatrics, cardiology, and orthopedics consultation was sought for all GS patients before taking up for any ophthalmic surgical procedure. The anatomical (ocular surface and eyelid) and functional {vision and extraocular movements (EOM)} factors were exclusively studied. We ensured a minimum postoperative follow-up of 12 months, and our data were compared with the major studies featuring 'ophthalmic features' of GS.

Results: Totally 30 children (females = 18, 60%) were included with a median presenting age of 48 months. Twenty-seven (90%) had unilateral ophthalmic involvement with major features being upper eyelid coloboma (n = 25, 75.76%), lipodermoid (n = 18, 54.55%), and limbal dermoid (n = 10, 30.3%). Diminution of visual acuity was recorded in 22 (73.3%), while five (16.7%) had limitation of EOM. Systemically, the prominent features included hemifacial hypotrophy (100%), auricular anomalies (80%), cardiac anomalies (10%), and scoliosis (6.67%). The eyelid colobomas were repaired with the direct closure ± cantholysis technique or using a Tenzel's flap. All children had satisfactory anatomical and functional outcomes after ophthalmic surgical interventions without any significant complications.

Conclusion: The tailored ophthalmic surgical intervention(s) provides satisfactory restoration of anatomy and functionality of the eye. These children need specific multi-discipline consultations for the holistic management and complete care.

Keywords: Dermolipoma; Eyelid coloboma; Goldenhar syndrome; Limbal dermoid; Lipodermoid.

MeSH terms

  • Child, Preschool
  • Disease Management*
  • Eye Movements / physiology*
  • Eyelids / abnormalities*
  • Eyelids / physiopathology
  • Eyelids / surgery
  • Female
  • Goldenhar Syndrome / diagnosis*
  • Goldenhar Syndrome / surgery
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Ophthalmologic Surgical Procedures / methods*
  • Retrospective Studies
  • Treatment Outcome