Retinall and Optic Nerve Findings in Goldenhar-Gorlin Syndrome

Sheila Margolis, Slobodan Aleksic, Norman Charles, Joseph McCarthy, M. Alba Greco, Gleb Budzilovich

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


Involvement of the posterior segment of the eye in Goldenhar-Gorlin syndrome is more cortimon than is generally appreciated. We examined seven patients with this syndrome. Abnormalities included diminished visual acuity, tilted optic disc, optic nerve hypoplasia, tortuous retinal vessels, macular hypoplasia and heterotopia, microphthalmia and anophthalmia. In one case, pathologic study showed agenesis of the optic nerve. It is proposed that retinal, optic nerve and craniofacial abnormalities in this condition may reflect an asynchrony in the migration of the neural crest cells in the early stages of embryonal development.

Original languageEnglish
Pages (from-to)1327-1333
Number of pages7
Issue number11
StatePublished - 1984
Externally publishedYes


  • Goldenhar-Gorlin syndrome
  • craniofacial anomalies
  • hemifacial microsomia
  • heterotopic maculae
  • pigmentation
  • retinal and optic nerve anomalies
  • retinal hypopigmentation
  • tilted disc syndrome


Dive into the research topics of 'Retinall and Optic Nerve Findings in Goldenhar-Gorlin Syndrome'. Together they form a unique fingerprint.

Cite this